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2024-03-29 07:25:15, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_005165               1665 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA.
ACCESSION   NM_005165
VERSION     NM_005165.2  GI:68303552
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 1665)
  AUTHORS   Martins-de-Souza,D., Schmitt,A., Roder,R., Lebar,M.,
            Schneider-Axmann,T., Falkai,P. and Turck,C.W.
  TITLE     Sex-specific proteome differences in the anterior cingulate cortex
            of schizophrenia
  JOURNAL   J Psychiatr Res 44 (14), 989-991 (2010)
   PUBMED   20381070
  REMARK    GeneRIF: This protein has been found differentially expressed in
            the anterior cingulate cortex in men patients with schizophrenia.
REFERENCE   2  (bases 1 to 1665)
  AUTHORS   Sultana,R., Perluigi,M., Newman,S.F., Pierce,W.M., Cini,C.,
            Coccia,R. and Butterfield,D.A.
  TITLE     Redox proteomic analysis of carbonylated brain proteins in mild
            cognitive impairment and early Alzheimer's disease
  JOURNAL   Antioxid. Redox Signal. 12 (3), 327-336 (2010)
   PUBMED   19686046
  REMARK    GeneRIF: Results identified fructose bisphospate aldolase C that
            showed elevated levels of protein carbonyls in inferior parietal
            lobule (IPL) from subjects with early stage-Alzheimer's disease.
REFERENCE   3  (bases 1 to 1665)
  AUTHORS   Martins-de-Souza,D., Gattaz,W.F., Schmitt,A., Maccarrone,G.,
            Hunyadi-Gulyas,E., Eberlin,M.N., Souza,G.H., Marangoni,S.,
            Novello,J.C., Turck,C.W. and Dias-Neto,E.
  TITLE     Proteomic analysis of dorsolateral prefrontal cortex indicates the
            involvement of cytoskeleton, oligodendrocyte, energy metabolism and
            new potential markers in schizophrenia
  JOURNAL   J Psychiatr Res 43 (11), 978-986 (2009)
   PUBMED   19110265
  REMARK    GeneRIF: This protein has been found differentially expressed in
            the dorsolateral prefrontal cortex from patients with
            schizophrenia.
            Erratum:[J Psychiatr Res. 2011 Feb;45(2):283]
REFERENCE   4  (bases 1 to 1665)
  AUTHORS   Martins-de-Souza,D., Gattaz,W.F., Schmitt,A., Rewerts,C.,
            Marangoni,S., Novello,J.C., Maccarrone,G., Turck,C.W. and
            Dias-Neto,E.
  TITLE     Alterations in oligodendrocyte proteins, calcium homeostasis and
            new potential markers in schizophrenia anterior temporal lobe are
            revealed by shotgun proteome analysis
  JOURNAL   J Neural Transm 116 (3), 275-289 (2009)
   PUBMED   19034380
  REMARK    GeneRIF: This protein has been found differentially expressed in
            the temporal lobe from patients with schizophrenia.
REFERENCE   5  (bases 1 to 1665)
  AUTHORS   Martins-de-Souza,D., Gattaz,W.F., Schmitt,A., Novello,J.C.,
            Marangoni,S., Turck,C.W. and Dias-Neto,E.
  TITLE     Proteome analysis of schizophrenia patients Wernicke's area reveals
            an energy metabolism dysregulation
  JOURNAL   BMC Psychiatry 9, 17 (2009)
   PUBMED   19405953
  REMARK    GeneRIF: This protein has been found differentially expressed in
            the Wernicke's Area from patients with schizophrenia.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1665)
  AUTHORS   Buono,P., Mancini,F.P., Izzo,P. and Salvatore,F.
  TITLE     Characterization of the transcription-initiation site and of the
            promoter region within the 5' flanking region of the human aldolase
            C gene
  JOURNAL   Eur. J. Biochem. 192 (3), 805-811 (1990)
   PUBMED   2209624
REFERENCE   7  (bases 1 to 1665)
  AUTHORS   Rocchi,M., Vitale,E., Covone,A., Romeo,G., Santamaria,R., Buono,P.,
            Paolella,G. and Salvatore,F.
  TITLE     Assignment of human aldolase C gene to chromosome 17, region
            cen----q21.1
  JOURNAL   Hum. Genet. 82 (3), 279-282 (1989)
   PUBMED   2731939
REFERENCE   8  (bases 1 to 1665)
  AUTHORS   Buono,P., Paolella,G., Mancini,F.P., Izzo,P. and Salvatore,F.
  TITLE     The complete nucleotide sequence of the gene coding for the human
            aldolase C
  JOURNAL   Nucleic Acids Res. 16 (10), 4733 (1988)
   PUBMED   3267224
REFERENCE   9  (bases 1 to 1665)
  AUTHORS   Tolan,D.R., Niclas,J., Bruce,B.D. and Lebo,R.V.
  TITLE     Evolutionary implications of the human aldolase-A, -B, -C, and
            -pseudogene chromosome locations
  JOURNAL   Am. J. Hum. Genet. 41 (5), 907-924 (1987)
   PUBMED   3674018
REFERENCE   10 (bases 1 to 1665)
  AUTHORS   Rottmann,W.H., Deselms,K.R., Niclas,J., Camerato,T., Holman,P.S.,
            Green,C.J. and Tolan,D.R.
  TITLE     The complete amino acid sequence of the human aldolase C isozyme
            derived from genomic clones
  JOURNAL   Biochimie 69 (2), 137-145 (1987)
   PUBMED   3105602
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005726.1, AF054987.1 and
            BF345067.1.
            On Jun 29, 2005 this sequence version replaced gi:4885062.
            
            Summary: This gene encodes a member of the class I
            fructose-biphosphate aldolase gene family. Expressed specifically
            in the hippocampus and Purkinje cells of the brain, the encoded
            protein is a glycolytic enzyme that catalyzes the reversible aldol
            cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to
            dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or
            glyceraldehyde, respectively. [provided by RefSeq, Jul 2008].
            
            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 :: BC003613.2, AF054987.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088, ERS025098 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-89                AC005726.1         80879-80967
            90-1645             AF054987.1         1-1556
            1646-1665           BF345067.1         153-172
FEATURES             Location/Qualifiers
     source          1..1665
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17cen-q12"
     gene            1..1665
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /note="aldolase C, fructose-bisphosphate"
                     /db_xref="GeneID:230"
                     /db_xref="HGNC:418"
                     /db_xref="HPRD:02386"
                     /db_xref="MIM:103870"
     exon            1..133
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /inference="alignment:Splign:1.39.8"
     STS             90..1568
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /db_xref="UniSTS:486554"
     exon            134..257
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /inference="alignment:Splign:1.39.8"
     CDS             146..1240
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /EC_number="4.1.2.13"
                     /note="fructoaldolase C; aldolase 3; brain-type aldolase;
                     fructose-1,6-biphosphate triosephosphate lyase"
                     /codon_start=1
                     /product="fructose-bisphosphate aldolase C"
                     /protein_id="NP_005156.1"
                     /db_xref="GI:4885063"
                     /db_xref="CCDS:CCDS11236.1"
                     /db_xref="GeneID:230"
                     /db_xref="HGNC:418"
                     /db_xref="HPRD:02386"
                     /db_xref="MIM:103870"
                     /translation="
MPHSYPALSAEQKKELSDIALRIVAPGKGILAADESVGSMAKRLSQIGVENTEENRRLYRQVLFSADDRVKKCIGGVIFFHETLYQKDDNGVPFVRTIQDKGIVVGIKVDKGVVPLAGTDGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKISERTPSALAILENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHVYLEGTLLKPNMVTPGHACPIKYTPEEIAMATVTALRRTVPPAVPGVTFLSGGQSEEEASFNLNAINRCPLPRPWALTFSYGRALQASALNAWRGQRDNAGAATEEFIKRAEVNGLAAQGKYEGSGEDGGAAAQSLYIANHAY
"
     misc_feature    182..1174
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /note="Fructose-1,6-bisphosphate aldolase; Region:
                     FBP_aldolase_I_a; cd00948"
                     /db_xref="CDD:188635"
     misc_feature    order(245..253,260..262,467..469,584..586,590..592,
                     707..709,833..835,956..964,1046..1048,1052..1057)
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /note="active site"
                     /db_xref="CDD:188635"
     misc_feature    order(476..478,629..631,638..643,650..652,662..664,
                     671..673,755..757,767..769,776..778,797..802,806..808,
                     818..820,917..922,926..928)
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /note="intersubunit interface [polypeptide binding]; other
                     site"
                     /db_xref="CDD:188635"
     misc_feature    833..835
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:188635"
     misc_feature    1235..1237
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /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 (P09972.2); other site"
     exon            258..469
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /inference="alignment:Splign:1.39.8"
     variation       457
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11559066"
     exon            470..524
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /inference="alignment:Splign:1.39.8"
     exon            525..685
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /inference="alignment:Splign:1.39.8"
     variation       535
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2229541"
     exon            686..769
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /inference="alignment:Splign:1.39.8"
     exon            770..944
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /inference="alignment:Splign:1.39.8"
     variation       835
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2228419"
     exon            945..1144
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /inference="alignment:Splign:1.39.8"
     exon            1145..1651
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
                     /inference="alignment:Splign:1.39.8"
     polyA_signal    1628..1633
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
     polyA_site      1646
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
     polyA_site      1651
                     /gene="ALDOC"
                     /gene_synonym="ALDC"
ORIGIN      
ccggaggagtcacgtagctctgcgacatccgcagcctcatttaccagagggagccagggctgcagcctcatctgtttgcggatcagaacccgagctgtgcttgtggctgcggctgctaactggctgcgcacagggagctgtcaccatgcctcactcgtacccagccctttctgctgagcagaagaaggagttgtctgacattgccctgcggattgtagccccgggcaaaggcattctggctgcggatgagtctgtaggcagcatggccaagcggctgagccaaattggggtggaaaacacagaggagaaccgccggctgtaccgccaggtcctgttcagtgctgatgaccgtgtgaaaaagtgcattggaggcgtcattttcttccatgagaccctctaccagaaagatgataatggtgttcccttcgtccgaaccatccaggataagggcatcgtcgtgggcatcaaggttgacaagggtgtggtgcctctagctgggactgatggagaaaccaccactcaagggctggatgggctctcagaacgctgtgcccaatacaagaaggatggtgctgactttgccaagtggcgctgtgtgctgaaaatcagtgagcgtacaccctctgcacttgccattctggagaacgccaacgtgctggcccgttatgccagtatctgccagcagaatggcattgtgcctattgtggaacctgaaatattgcctgatggagaccacgacctcaaacgttgtcagtatgttacagagaaggtcttggctgctgtgtacaaggccctgagtgaccatcatgtatacctggaggggaccctgctcaagcccaacatggtgaccccgggccatgcctgtcccatcaagtataccccagaggagattgccatggcaactgtcactgccctgcgtcgcactgtgcccccagctgtcccaggagtgaccttcctgtctgggggtcagagcgaagaagaggcatcattcaacctcaatgccatcaaccgctgcccccttccccgaccctgggcgcttaccttctcctatgggcgtgccctgcaagcctctgcactcaatgcctggcgagggcaacgggacaatgctggggctgccactgaggagttcatcaagcgggctgaggtgaatgggcttgcagcccagggcaagtatgaaggcagtggagaagatggtggagcagcagcacagtcactctacattgccaaccatgcctactgagtatccactccataccacagcccttggcccagccatctgcacccacttttgcttgtagtcatggccagggccaaatagctatgcagagcagagatgccttcacctggcaccaacttgtcttcctttctctcttcccttcccctctctcattgctgcacctgggaccataggatgggaggatagggagcccctcatgactgagggcagaagaaattgctagaagtcagaacaggatggctgggtctccccctacctcttccagctcccacaattttcccatgatgaggtagcttctccctgggctctccttcttgcctgccctgtctcctgggatcagagggtagtacagaagccctgactcatgccttgagtacataccatacagcaaataaatggtagcaaaacattctaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:230 -> Molecular function: GO:0004332 [fructose-bisphosphate aldolase activity] evidence: IDA
            GeneID:230 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:230 -> Molecular function: GO:0008092 [cytoskeletal protein binding] evidence: IDA
            GeneID:230 -> Biological process: GO:0001666 [response to hypoxia] evidence: IEA
            GeneID:230 -> Biological process: GO:0005975 [carbohydrate metabolic process] evidence: TAS
            GeneID:230 -> Biological process: GO:0006000 [fructose metabolic process] evidence: TAS
            GeneID:230 -> Biological process: GO:0006006 [glucose metabolic process] evidence: TAS
            GeneID:230 -> Biological process: GO:0006094 [gluconeogenesis] evidence: TAS
            GeneID:230 -> Biological process: GO:0006096 [glycolysis] evidence: IEA
            GeneID:230 -> Biological process: GO:0006096 [glycolysis] evidence: TAS
            GeneID:230 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
            GeneID:230 -> Biological process: GO:0007568 [aging] evidence: IEA
            GeneID:230 -> Biological process: GO:0010243 [response to organonitrogen compound] evidence: IEA
            GeneID:230 -> Biological process: GO:0014070 [response to organic cyclic compound] evidence: IEA
            GeneID:230 -> Biological process: GO:0030388 [fructose 1,6-bisphosphate metabolic process] evidence: IDA
            GeneID:230 -> Biological process: GO:0031100 [organ regeneration] evidence: IEA
            GeneID:230 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:230 -> Biological process: GO:0051289 [protein homotetramerization] evidence: IEA
            GeneID:230 -> Biological process: GO:0051290 [protein heterotetramerization] evidence: IEA
            GeneID:230 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
            GeneID:230 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:230 -> Cellular component: GO:0005856 [cytoskeleton] evidence: IC
            GeneID:230 -> Cellular component: GO:0030424 [axon] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_005156 -> EC 4.1.2.13

by @meso_cacase at DBCLS
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