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2024-04-20 07:29:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001127617 1630 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript
variant 4, mRNA.
ACCESSION NM_001127617
VERSION NM_001127617.2 GI:342187199
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 1630)
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 1630)
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 1630)
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 1630)
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 1630)
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 1630)
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 1630)
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 1630)
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 1630)
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 1630)
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 DA899482.1, BX647566.1 and
BU855133.1.
On Jul 30, 2011 this sequence version replaced gi:193794813.
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 (4) differs in the 5' UTR,
compared to variant 1. Variants 1-4 encode the same isoform (1).
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 :: BX647566.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025083, ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-243 DA899482.1 1-243
244-1603 BX647566.1 33-1392
1604-1630 BU855133.1 690-716
FEATURES Location/Qualifiers
source 1..1630
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16p11.2"
gene 1..1630
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/note="aldolase A, fructose-bisphosphate"
/db_xref="GeneID:226"
/db_xref="HGNC:414"
/db_xref="MIM:103850"
exon 1..288
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/inference="alignment:Splign:1.39.8"
variation 11
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="t"
/db_xref="dbSNP:112378450"
variation 65
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="c"
/db_xref="dbSNP:371944000"
variation 66
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:182114981"
variation 92
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:114148986"
variation 113
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:185462650"
misc_feature 127..129
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/note="upstream in-frame stop codon"
variation 147
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:374756838"
variation 276
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:148504799"
exon 289..421
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/inference="alignment:Splign:1.39.8"
variation 298
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:368691859"
variation 304
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:371602498"
variation 307
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="t"
/db_xref="dbSNP:201718271"
CDS 310..1404
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/EC_number="4.1.2.13"
/note="isoform 1 is encoded by transcript variant 4;
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_001121089.1"
/db_xref="GI:193794814"
/db_xref="CCDS:CCDS10668.1"
/db_xref="GeneID:226"
/db_xref="HGNC:414"
/db_xref="MIM:103850"
/translation="
MPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHIYLEGTLLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQSEEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYVKRALANSLACQGKYTPSGQAGAAASESLFVSNHAY
"
misc_feature 346..1338
/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(409..417,424..426,631..633,748..750,754..756,
871..873,997..999,1120..1128,1210..1212,1216..1221)
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/note="active site"
/db_xref="CDD:188635"
misc_feature 415..417
/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 424..426
/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 433..435
/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 445..447
/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 631..633
/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(640..642,793..795,802..807,814..816,826..828,
835..837,919..921,931..933,940..942,961..966,970..972,
982..984,1081..1086,1090..1092)
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/note="intersubunit interface [polypeptide binding]; other
site"
/db_xref="CDD:188635"
misc_feature 640..642
/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 997..999
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/note="catalytic residue [active]"
/db_xref="CDD:188635"
misc_feature 1243..1245
/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 1297..1299
/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 1399..1401
/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 311
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:373517060"
variation 328
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:150003720"
variation 336
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:188898200"
variation 354
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:3098411"
variation 358
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="g"
/replace="t"
/db_xref="dbSNP:369593749"
variation 372
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:11553110"
variation 373
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:145582724"
variation 374
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:372684193"
variation 383
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:148880951"
variation 389
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:11553114"
variation 400
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:375985075"
variation 407
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:11553106"
exon 422..633
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/inference="alignment:Splign:1.39.8"
variation 430
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="g"
/replace="t"
/db_xref="dbSNP:11553115"
variation 469
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:199852002"
variation 510
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:11553112"
variation 511
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:201468609"
variation 522
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:146976414"
variation 524
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="c"
/db_xref="dbSNP:371785490"
variation 526
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="g"
/replace="t"
/db_xref="dbSNP:3098412"
variation 538
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:200588805"
variation 553
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:11553107"
variation 558
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:76767223"
variation 618
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="t"
/db_xref="dbSNP:142231603"
exon 634..688
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/inference="alignment:Splign:1.39.8"
variation 645
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:145811469"
variation 646
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:148193398"
variation 655
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:201627751"
variation 657
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:141220324"
exon 689..849
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/inference="alignment:Splign:1.39.8"
variation 695
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:121909533"
variation 709
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:11553113"
variation 732
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:150741747"
variation 734
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="g"
/replace="t"
/db_xref="dbSNP:11553108"
variation 760
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="g"
/replace="t"
/db_xref="dbSNP:199655729"
variation 775
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:11553116"
variation 795
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:112110009"
variation 801
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:11553120"
variation 815
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:142957871"
variation 826
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:374042346"
variation 836
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:11553121"
exon 850..933
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/inference="alignment:Splign:1.39.8"
variation 861
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:201519764"
variation 896
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="c"
/db_xref="dbSNP:3112557"
variation 910
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:372394541"
STS 914..1119
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/standard_name="GDB:451697"
/db_xref="UniSTS:157349"
variation 921
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:369668963"
variation 928
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:121909534"
exon 934..1108
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/inference="alignment:Splign:1.39.8"
variation 945
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="t"
/db_xref="dbSNP:146109120"
variation 946
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:140201659"
variation 970
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="c"
/db_xref="dbSNP:182063751"
variation 972
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:199653623"
variation 994
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:11553109"
variation 999
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="g"
/replace="t"
/db_xref="dbSNP:3134626"
variation 1002
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:142242422"
variation 1033
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:375434995"
variation 1044
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="t"
/db_xref="dbSNP:3134627"
variation 1045
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:144693278"
variation 1068
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:148503847"
variation 1069
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:142759891"
variation 1073
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:368207656"
variation 1076
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:201658390"
variation 1082
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:151069138"
exon 1109..1308
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/inference="alignment:Splign:1.39.8"
variation 1109
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:201610579"
variation 1110
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:147193284"
variation 1120
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:111252736"
variation 1122
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:374231136"
variation 1135
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="t"
/db_xref="dbSNP:202079871"
variation 1140
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:186320122"
STS 1147..1272
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/standard_name="RH47250"
/db_xref="UniSTS:89094"
variation 1147
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="g"
/replace="t"
/db_xref="dbSNP:3098416"
variation 1212
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:3207373"
variation 1215
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:200761497"
variation 1227
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:147612848"
variation 1254
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:142315181"
variation 1271
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:146116144"
variation 1272
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:145479598"
variation 1275
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:11553105"
variation 1276
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace=""
/replace="c"
/db_xref="dbSNP:34955546"
variation 1276
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="g"
/replace="t"
/db_xref="dbSNP:148828956"
variation 1288
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:375546208"
exon 1309..1612
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/inference="alignment:Splign:1.39.8"
variation 1313
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:369551047"
variation 1329
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:143419532"
variation 1347
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:77290575"
variation 1348
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:138824667"
STS 1374..1541
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/standard_name="D10S1286E"
/db_xref="UniSTS:151321"
variation 1380
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:3169548"
variation 1383
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:1061406"
variation 1384
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:373670009"
STS 1391..1559
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/standard_name="RH67859"
/db_xref="UniSTS:89367"
STS 1393..1594
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/standard_name="RH80798"
/db_xref="UniSTS:86437"
STS 1398..1542
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/standard_name="D10S2367"
/db_xref="UniSTS:9614"
variation 1416
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="c"
/db_xref="dbSNP:11135"
variation 1423
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:376709866"
variation 1432
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="c"
/db_xref="dbSNP:12831"
variation 1435
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="g"
/replace="t"
/db_xref="dbSNP:377064637"
variation 1436
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:1138624"
variation 1443
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:377025581"
variation 1485
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:1061993"
variation 1491
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="g"
/replace="t"
/db_xref="dbSNP:1803085"
variation 1512
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:1062217"
variation 1529
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="g"
/replace="t"
/db_xref="dbSNP:3098417"
variation 1540
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="t"
/db_xref="dbSNP:191226606"
variation 1574
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="c"
/replace="g"
/db_xref="dbSNP:3098418"
variation 1577
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="c"
/db_xref="dbSNP:1062379"
polyA_signal 1584..1589
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
variation 1605
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:3179750"
variation 1607
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="g"
/db_xref="dbSNP:112227388"
variation 1608
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
/replace="a"
/replace="t"
/db_xref="dbSNP:112398571"
polyA_site 1612
/gene="ALDOA"
/gene_synonym="ALDA; GSD12"
ORIGIN
gaagcaccggtgagtgggcaggggctccctccccatcaatagggccgacccaagtcttcctcccccttcccccatgccgggccccacgatagtgtgaatgtcaggggcttcaggtttccctaaatataggtccctgccagaggatccgtggcgggaaaagggcaggggtcattagagaagatcggggacacatgtggggcgggcaggagctgccttataaccagcccgggaacccctagctcactcgctgctgaccaggctctgccggctccttcggcctcgccgcaggaacttgctactaccagcaccatgccctaccaatatccagcactgaccccggagcagaagaaggagctgtctgacatcgctcaccgcatcgtggcacctggcaagggcatcctggctgcagatgagtccactgggagcattgccaagcggctgcagtccattggcaccgagaacaccgaggagaaccggcgcttctaccgccagctgctgctgacagctgacgaccgcgtgaacccctgcattgggggtgtcatcctcttccatgagacactctaccagaaggcggatgatgggcgtcccttcccccaagttatcaaatccaagggcggtgttgtgggcatcaaggtagacaagggcgtggtccccctggcagggacaaatggcgagactaccacccaagggttggatgggctgtctgagcgctgtgcccagtacaagaaggacggagctgacttcgccaagtggcgttgtgtgctgaagattggggaacacaccccctcagccctcgccatcatggaaaatgccaatgttctggcccgttatgccagtatctgccagcagaatggcattgtgcccatcgtggagcctgagatcctccctgatggggaccatgacttgaagcgctgccagtatgtgaccgagaaggtgctggctgctgtctacaaggctctgagtgaccaccacatctacctggaaggcaccttgctgaagcccaacatggtcaccccaggccatgcttgcactcagaagttttctcatgaggagattgccatggcgaccgtcacagcgctgcgccgcacagtgccccccgctgtcactgggatcaccttcctgtctggaggccagagtgaggaggaggcgtccatcaacctcaatgccattaacaagtgccccctgctgaagccctgggccctgaccttctcctacggccgagccctgcaggcctctgccctgaaggcctggggcgggaagaaggagaacctgaaggctgcgcaggaggagtatgtcaagcgagccctggccaacagccttgcctgtcaaggaaagtacactccgagcggtcaggctggggctgctgccagcgagtccctcttcgtctctaaccacgcctattaagcggaggtgttcccaggctgcccccaacactccaggccctgccccctcccactcttgaagaggaggccgcctcctcggggctccaggctggcttgcccgcgctctttcttccctcgtgacagtggtgtgtggtgtcgtctgtgaatgctaagtccatcaccctttccggcacactgccaaataaacagctatttaagggggagtcggcaaaaaaaaaaaaaaaaaa
//
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_001121089 -> EC 4.1.2.13
by
@meso_cacase at
DBCLS
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