2025-05-09 18:23:27, 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
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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
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