GGRNA Home | Help | Advanced search

2019-03-25 08:34:03, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_000034               2408 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript
            variant 1, mRNA.
ACCESSION   NM_000034
VERSION     NM_000034.3  GI:342187192
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2408)
  AUTHORS   Peng,Y., Li,X., Wu,M., Yang,J., Liu,M., Zhang,W., Xiang,B.,
            Wang,X., Li,X., Li,G. and Shen,S.
  TITLE     New prognosis biomarkers identified by dynamic proteomic analysis
            of colorectal cancer
  JOURNAL   Mol Biosyst 8 (11), 3077-3088 (2012)
   PUBMED   22996014
  REMARK    GeneRIF: The new prognostic biomarkers GRP78, Fructose-bisphosphate
            Aldolase A (ALDOA), Carbonic Anhydrase I (CA1) and Peptidyl-prolyl
            cis-trans isomerase A or Cyclophilin A (PPIA)) provided good
            survival prediction for TNM stage I-IV patients.
REFERENCE   2  (bases 1 to 2408)
  AUTHORS   Merkulova,M., Hurtado-Lorenzo,A., Hosokawa,H., Zhuang,Z., Brown,D.,
            Ausiello,D.A. and Marshansky,V.
  TITLE     Aldolase directly interacts with ARNO and modulates cell morphology
            and acidic vesicle distribution
  JOURNAL   Am. J. Physiol., Cell Physiol. 300 (6), C1442-C1455 (2011)
   PUBMED   21307348
  REMARK    GeneRIF: Data that aldolase forms a complex with ARNO/Arf6 and the
            V-ATPase and that it may contribute to remodeling of the actin
            cytoskeleton.
REFERENCE   3  (bases 1 to 2408)
  AUTHORS   Sekar,Y., Moon,T.C., Slupsky,C.M. and Befus,A.D.
  TITLE     Protein tyrosine nitration of aldolase in mast cells: a plausible
            pathway in nitric oxide-mediated regulation of mast cell function
  JOURNAL   J. Immunol. 185 (1), 578-587 (2010)
   PUBMED   20511553
  REMARK    GeneRIF: Posttranslational nitration of aldolase A may be an
            important pathway that regulates mast cell phenotype and function.
REFERENCE   4  (bases 1 to 2408)
  AUTHORS   Mukai,T., Arai,Y., Yatsuki,H., Joh,K. and Hori,K.
  TITLE     An additional promoter functions in the human aldolase A gene, but
            not in rat
  JOURNAL   Eur. J. Biochem. 195 (3), 781-787 (1991)
   PUBMED   1999195
REFERENCE   5  (bases 1 to 2408)
  AUTHORS   Izzo,P., Costanzo,P., Lupo,A., Rippa,E., Paolella,G. and
            Salvatore,F.
  TITLE     Human aldolase A gene. Structural organization and tissue-specific
            expression by multiple promoters and alternate mRNA processing
  JOURNAL   Eur. J. Biochem. 174 (4), 569-578 (1988)
   PUBMED   3391172
REFERENCE   6  (bases 1 to 2408)
  AUTHORS   Kishi,H., Mukai,T., Hirono,A., Fujii,H., Miwa,S. and Hori,K.
  TITLE     Human aldolase A deficiency associated with a hemolytic anemia:
            thermolabile aldolase due to a single base mutation
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 84 (23), 8623-8627 (1987)
   PUBMED   2825199
REFERENCE   7  (bases 1 to 2408)
  AUTHORS   Maire,P., Gautron,S., Hakim,V., Gregori,C., Mennecier,F. and
            Kahn,A.
  TITLE     Characterization of three optional promoters in the 5' region of
            the human aldolase A gene
  JOURNAL   J. Mol. Biol. 197 (3), 425-438 (1987)
   PUBMED   3441006
REFERENCE   8  (bases 1 to 2408)
  AUTHORS   Sakakibara,M., Mukai,T. and Hori,K.
  TITLE     Nucleotide sequence of a cDNA clone for human aldolase: a messenger
            RNA in the liver
  JOURNAL   Biochem. Biophys. Res. Commun. 131 (1), 413-420 (1985)
   PUBMED   3840020
REFERENCE   9  (bases 1 to 2408)
  AUTHORS   Rehbein-Thoner,M. and Pfleiderer,G.
  TITLE     The changes in aldolase isoenzyme pattern during development of the
            human kidney and small intestine--demonstrated in organ extracts
            and tissue sections
  JOURNAL   Hoppe-Seyler's Z. Physiol. Chem. 358 (2), 169-180 (1977)
   PUBMED   844801
REFERENCE   10 (bases 1 to 2408)
  AUTHORS   Pfleiderer,G., Thoner,M. and Wachsmuth,E.D.
  TITLE     Histological examination of the aldolase monomer composition of
            cells from human kidney and hypernephroid carcinoma
  JOURNAL   Beitr Pathol 156 (3), 266-279 (1975)
   PUBMED   766744
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB057572.1, BC004333.1 and
            BU855133.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jul 30, 2011 this sequence version replaced gi:34577108.
            
            Summary: The protein encoded by this gene, Aldolase A
            (fructose-bisphosphate aldolase), is a glycolytic enzyme that
            catalyzes the reversible conversion of fructose-1,6-bisphosphate to
            glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three
            aldolase isozymes (A, B, and C), encoded by three different genes,
            are differentially expressed during development. Aldolase A is
            found in the developing embryo and is produced in even greater
            amounts in adult muscle. Aldolase A expression is repressed in
            adult liver, kidney and intestine and similar to aldolase C levels
            in brain and other nervous tissue. Aldolase A deficiency has been
            associated with myopathy and hemolytic anemia. Alternative splicing
            and alternative promoter usage results in multiple transcript
            variants. Related pseudogenes have been identified on chromosomes 3
            and 10. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform 1. Variants 2-4 encode the same
            isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC004333.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025085, ERS025086 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-80                DB057572.1         2-81
            81-2384             BC004333.1         1-2304
            2385-2408           BU855133.1         693-716
FEATURES             Location/Qualifiers
     source          1..2408
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..2408
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /note="aldolase A, fructose-bisphosphate"
                     /db_xref="GeneID:226"
                     /db_xref="HGNC:414"
                     /db_xref="HPRD:00070"
                     /db_xref="MIM:103850"
     exon            1..128
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     variation       9
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142701601"
     variation       61
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:41280854"
     variation       75
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192333744"
     exon            129..164
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     exon            165..308
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     variation       165
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367598362"
     variation       186
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372098412"
     variation       256
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145220491"
     exon            309..464
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     variation       428
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:188052082"
     exon            465..984
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     variation       514
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368816502"
     variation       597
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:36029842"
     misc_feature    641..643
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /note="upstream in-frame stop codon"
     variation       682
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:144671145"
     variation       700
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:116317239"
     variation       770
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77821461"
     variation       840
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191041320"
     variation       841
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376372530"
     exon            985..1066
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     exon            1067..1199
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     variation       1076
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368691859"
     variation       1082
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371602498"
     variation       1085
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:201718271"
     CDS             1088..2182
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /EC_number="4.1.2.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     fructose-1,6-bisphosphate triosephosphate-lyase;
                     muscle-type aldolase; lung cancer antigen NY-LU-1"
                     /codon_start=1
                     /product="fructose-bisphosphate aldolase A isoform 1"
                     /protein_id="NP_000025.1"
                     /db_xref="GI:4557305"
                     /db_xref="CCDS:CCDS10668.1"
                     /db_xref="GeneID:226"
                     /db_xref="HGNC:414"
                     /db_xref="HPRD:00070"
                     /db_xref="MIM:103850"
                     /translation="
MPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHIYLEGTLLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYVKRALANSLACQGKYTPSGQAGAAASESLFVSNHAY
"
     misc_feature    1094..1096
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1100..1102
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1124..2116
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /note="Fructose-1,6-bisphosphate aldolase; Region:
                     FBP_aldolase_I_a; cd00948"
                     /db_xref="CDD:188635"
     misc_feature    order(1187..1195,1202..1204,1409..1411,1526..1528,
                     1532..1534,1649..1651,1775..1777,1898..1906,1988..1990,
                     1994..1999)
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /note="active site"
                     /db_xref="CDD:188635"
     misc_feature    1193..1195
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P04075.2); phosphorylation site"
     misc_feature    1193..1195
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1196..1198
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1202..1204
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P04075.2); phosphorylation site"
     misc_feature    1211..1213
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (P04075.2); acetylation site"
     misc_feature    1223..1225
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P04075.2); phosphorylation site"
     misc_feature    1223..1225
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1409..1411
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (P04075.2); acetylation site"
     misc_feature    order(1418..1420,1571..1573,1580..1585,1592..1594,
                     1604..1606,1613..1615,1697..1699,1709..1711,1718..1720,
                     1739..1744,1748..1750,1760..1762,1859..1864,1868..1870)
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /note="intersubunit interface [polypeptide binding]; other
                     site"
                     /db_xref="CDD:188635"
     misc_feature    1418..1420
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-malonyllysine; propagated from
                     UniProtKB/Swiss-Prot (P04075.2); modified site"
     misc_feature    1697..1699
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1754..1756
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1775..1777
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:188635"
     misc_feature    2021..2023
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-malonyllysine; propagated from
                     UniProtKB/Swiss-Prot (P04075.2); modified site"
     misc_feature    2075..2077
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (P04075.2); acetylation site"
     misc_feature    2177..2179
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Necessary for preference for fructose
                     1,6-bisphosphate over fructose 1-phosphate; propagated
                     from UniProtKB/Swiss-Prot (P04075.2); other site"
     variation       1089
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373517060"
     variation       1106
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150003720"
     variation       1114
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:188898200"
     variation       1132
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3098411"
     variation       1136
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:369593749"
     variation       1150
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11553110"
     variation       1151
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145582724"
     variation       1152
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372684193"
     variation       1161
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148880951"
     variation       1167
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11553114"
     variation       1178
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375985075"
     variation       1185
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11553106"
     exon            1200..1411
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     variation       1208
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11553115"
     variation       1247
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199852002"
     variation       1288
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11553112"
     variation       1289
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201468609"
     variation       1300
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:146976414"
     variation       1302
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:371785490"
     variation       1304
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3098412"
     variation       1316
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200588805"
     variation       1331
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:11553107"
     variation       1336
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:76767223"
     variation       1396
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:142231603"
     exon            1412..1466
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     variation       1423
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145811469"
     variation       1424
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148193398"
     variation       1433
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201627751"
     variation       1435
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:141220324"
     exon            1467..1627
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     variation       1473
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:121909533"
     variation       1487
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11553113"
     variation       1510
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150741747"
     variation       1512
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11553108"
     variation       1538
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:199655729"
     variation       1553
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11553116"
     variation       1573
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:112110009"
     variation       1579
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11553120"
     variation       1593
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142957871"
     variation       1604
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374042346"
     variation       1614
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:11553121"
     exon            1628..1711
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     variation       1639
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201519764"
     variation       1674
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:3112557"
     variation       1688
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372394541"
     STS             1692..1897
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /standard_name="GDB:451697"
                     /db_xref="UniSTS:157349"
     variation       1699
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369668963"
     variation       1706
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:121909534"
     exon            1712..1886
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     variation       1723
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:146109120"
     variation       1724
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:140201659"
     variation       1748
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:182063751"
     variation       1750
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199653623"
     variation       1772
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11553109"
     variation       1777
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3134626"
     variation       1780
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142242422"
     variation       1811
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:375434995"
     variation       1822
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:3134627"
     variation       1823
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144693278"
     variation       1846
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148503847"
     variation       1847
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142759891"
     variation       1851
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368207656"
     variation       1854
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201658390"
     variation       1860
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151069138"
     exon            1887..2086
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     variation       1887
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201610579"
     variation       1888
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147193284"
     variation       1898
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:111252736"
     variation       1900
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374231136"
     variation       1913
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:202079871"
     variation       1918
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186320122"
     STS             1925..2050
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /standard_name="RH47250"
                     /db_xref="UniSTS:89094"
     variation       1925
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3098416"
     variation       1990
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3207373"
     variation       1993
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200761497"
     variation       2005
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147612848"
     variation       2032
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142315181"
     variation       2049
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146116144"
     variation       2050
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145479598"
     variation       2053
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11553105"
     variation       2054
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:34955546"
     variation       2054
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:148828956"
     variation       2066
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375546208"
     exon            2087..2390
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /inference="alignment:Splign:1.39.8"
     variation       2091
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369551047"
     variation       2107
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143419532"
     variation       2125
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77290575"
     variation       2126
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138824667"
     STS             2152..2319
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /standard_name="D10S1286E"
                     /db_xref="UniSTS:151321"
     variation       2158
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3169548"
     variation       2161
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1061406"
     variation       2162
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373670009"
     STS             2169..2337
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /standard_name="RH67859"
                     /db_xref="UniSTS:89367"
     STS             2171..2372
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /standard_name="RH80798"
                     /db_xref="UniSTS:86437"
     STS             2176..2320
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /standard_name="D10S2367"
                     /db_xref="UniSTS:9614"
     variation       2194
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11135"
     variation       2201
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376709866"
     variation       2210
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:12831"
     variation       2213
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377064637"
     variation       2214
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1138624"
     variation       2221
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:377025581"
     variation       2263
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1061993"
     variation       2269
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1803085"
     variation       2290
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1062217"
     variation       2307
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3098417"
     variation       2318
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191226606"
     variation       2352
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:3098418"
     variation       2355
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1062379"
     polyA_signal    2362..2367
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
     variation       2383
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3179750"
     variation       2385
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112227388"
     variation       2386
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:112398571"
     polyA_site      2390
                     /gene="ALDOA"
                     /gene_synonym="ALDA; GSD12"
ORIGIN      
aaacaccgctctggtcaccatggcaacagcgggatgccgcgaacggcttctgggcggggccggtccctcggacgattggacctagcttggcgcggaatccgtgaattgcccgcggcccgagggtgcagctcccggactgactggctctgcccttccccatggacgcctcctctagcccgtggaatccaaccccggctcctgtcagcagccctcccctgctgctccccatccctgccatcgtcttcatcgctgtgggcatctatttgttgctgctgggtctagtcctgctgactaggaactgcctgctggcccagggctgctgcgcggacggtagctccccctgcaggaagcaaggttcctccgggcccccagactgctgctggacctgtgcagaagcctgcaactttcctctgcctagcccggcccacttcctggatgcttgctgcccccagcccaccagagctgactgggcacctcgctgcccccgctgctgcccactctgcgactgtgcctgtacgtgccagctccccgactgccagagcctcaactgtctctgcttcgagatcaagctccgatgaggacccagggcccctgccctctggggagcggccagcccccagggcccatgtgccctcctccctgaagagcctttccccacgccactggaaccacagatggcctgccgagcacccaggcctgggaactggaagtggcagcgcagggcctggctccctgcagggcaggactcttggccggctggacggcagctcctctggagggccagaaaagagaggggctagtgctcgggcaggtgccctggcttcccttcccctccacacgtcaacgattctatttgaagttgggcaggggggtggcgctgctcaccacacacaagtgttataggaggagtctggcccttgagtaccgggtacgcaggggtgcctcaaccacactccgtccacggactctccgttattttaggaggtccctggccaaagatttatttctcttgacaaccaagggcctccgtctggatttccaaggaagaatttcctctgaagcaccggaacttgctactaccagcaccatgccctaccaatatccagcactgaccccggagcagaagaaggagctgtctgacatcgctcaccgcatcgtggcacctggcaagggcatcctggctgcagatgagtccactgggagcattgccaagcggctgcagtccattggcaccgagaacaccgaggagaaccggcgcttctaccgccagctgctgctgacagctgacgaccgcgtgaacccctgcattgggggtgtcatcctcttccatgagacactctaccagaaggcggatgatgggcgtcccttcccccaagttatcaaatccaagggcggtgttgtgggcatcaaggtagacaagggcgtggtccccctggcagggacaaatggcgagactaccacccaagggttggatgggctgtctgagcgctgtgcccagtacaagaaggacggagctgacttcgccaagtggcgttgtgtgctgaagattggggaacacaccccctcagccctcgccatcatggaaaatgccaatgttctggcccgttatgccagtatctgccagcagaatggcattgtgcccatcgtggagcctgagatcctccctgatggggaccatgacttgaagcgctgccagtatgtgaccgagaaggtgctggctgctgtctacaaggctctgagtgaccaccacatctacctggaaggcaccttgctgaagcccaacatggtcaccccaggccatgcttgcactcagaagttttctcatgaggagattgccatggcgaccgtcacagcgctgcgccgcacagtgccccccgctgtcactgggatcaccttcctgtctggaggccagagtgaggaggaggcgtccatcaacctcaatgccattaacaagtgccccctgctgaagccctgggccctgaccttctcctacggccgagccctgcaggcctctgccctgaaggcctggggcgggaagaaggagaacctgaaggctgcgcaggaggagtatgtcaagcgagccctggccaacagccttgcctgtcaaggaaagtacactccgagcggtcaggctggggctgctgccagcgagtccctcttcgtctctaaccacgcctattaagcggaggtgttcccaggctgcccccaacactccaggccctgccccctcccactcttgaagaggaggccgcctcctcggggctccaggctggcttgcccgcgctctttcttccctcgtgacagtggtgtgtggtgtcgtctgtgaatgctaagtccatcaccctttccggcacactgccaaataaacagctatttaagggggagtcggcaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:226 -> Molecular function: GO:0003779 [actin binding] evidence: TAS
            GeneID:226 -> Molecular function: GO:0004332 [fructose-bisphosphate aldolase activity] evidence: IDA
            GeneID:226 -> Molecular function: GO:0008092 [cytoskeletal protein binding] evidence: IDA
            GeneID:226 -> Molecular function: GO:0015631 [tubulin binding] evidence: TAS
            GeneID:226 -> Molecular function: GO:0042802 [identical protein binding] evidence: TAS
            GeneID:226 -> Molecular function: GO:0070061 [fructose binding] evidence: IDA
            GeneID:226 -> Biological process: GO:0002576 [platelet degranulation] evidence: TAS
            GeneID:226 -> Biological process: GO:0005975 [carbohydrate metabolic process] evidence: TAS
            GeneID:226 -> Biological process: GO:0006000 [fructose metabolic process] evidence: IMP
            GeneID:226 -> Biological process: GO:0006006 [glucose metabolic process] evidence: TAS
            GeneID:226 -> Biological process: GO:0006094 [gluconeogenesis] evidence: TAS
            GeneID:226 -> Biological process: GO:0006096 [glycolysis] evidence: IEA
            GeneID:226 -> Biological process: GO:0006096 [glycolysis] evidence: IMP
            GeneID:226 -> Biological process: GO:0006096 [glycolysis] evidence: TAS
            GeneID:226 -> Biological process: GO:0006754 [ATP biosynthetic process] evidence: IMP
            GeneID:226 -> Biological process: GO:0006941 [striated muscle contraction] evidence: IMP
            GeneID:226 -> Biological process: GO:0007015 [actin filament organization] evidence: TAS
            GeneID:226 -> Biological process: GO:0007596 [blood coagulation] evidence: TAS
            GeneID:226 -> Biological process: GO:0008360 [regulation of cell shape] evidence: IDA
            GeneID:226 -> Biological process: GO:0030168 [platelet activation] evidence: TAS
            GeneID:226 -> Biological process: GO:0030388 [fructose 1,6-bisphosphate metabolic process] evidence: IDA
            GeneID:226 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:226 -> Biological process: GO:0046716 [muscle cell homeostasis] evidence: IMP
            GeneID:226 -> Biological process: GO:0051289 [protein homotetramerization] evidence: ISS
            GeneID:226 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
            GeneID:226 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:226 -> Cellular component: GO:0015629 [actin cytoskeleton] evidence: IDA
            GeneID:226 -> Cellular component: GO:0031093 [platelet alpha granule lumen] evidence: TAS
            GeneID:226 -> Cellular component: GO:0031674 [I band] evidence: TAS
            GeneID:226 -> Cellular component: GO:0070062 [extracellular vesicular exosome] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_000025 -> EC 4.1.2.13

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.