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2025-05-09 16:34:06, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000693 3510 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3),
mRNA.
ACCESSION NM_000693
VERSION NM_000693.2 GI:153266821
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 3510)
AUTHORS Fares-Taie,L., Gerber,S., Chassaing,N., Clayton-Smith,J.,
Hanein,S., Silva,E., Serey,M., Serre,V., Gerard,X., Baumann,C.,
Plessis,G., Demeer,B., Bretillon,L., Bole,C., Nitschke,P.,
Munnich,A., Lyonnet,S., Calvas,P., Kaplan,J., Ragge,N. and
Rozet,J.M.
TITLE ALDH1A3 mutations cause recessive anophthalmia and microphthalmia
JOURNAL Am. J. Hum. Genet. 92 (2), 265-270 (2013)
PUBMED 23312594
REMARK GeneRIF: Homozygosity for one splice-site and two missense
mutations in the gene encoding the A3 isoform of the aldehyde
dehydrogenase 1 (ALDH1A3) in three consanguineous families, is
reported.
REFERENCE 2 (bases 1 to 3510)
AUTHORS Eirew,P., Kannan,N., Knapp,D.J., Vaillant,F., Emerman,J.T.,
Lindeman,G.J., Visvader,J.E. and Eaves,C.J.
TITLE Aldehyde dehydrogenase activity is a biomarker of primitive normal
human mammary luminal cells
JOURNAL Stem Cells 30 (2), 344-348 (2012)
PUBMED 22131125
REMARK GeneRIF: ALDH1A3 transcripts are detected at high levels in luminal
progenitor-enriched fractions obtained from short-term adherent
cultures of freshly isolated normal human mammary cells.
REFERENCE 3 (bases 1 to 3510)
AUTHORS Marcato,P., Dean,C.A., Pan,D., Araslanova,R., Gillis,M., Joshi,M.,
Helyer,L., Pan,L., Leidal,A., Gujar,S., Giacomantonio,C.A. and
Lee,P.W.
TITLE Aldehyde dehydrogenase activity of breast cancer stem cells is
primarily due to isoform ALDH1A3 and its expression is predictive
of metastasis
JOURNAL Stem Cells 29 (1), 32-45 (2011)
PUBMED 21280157
REMARK GeneRIF: ALDH1A3 expression in patient breast tumors correlates
significantly with tumor grade, metastasis, and cancer stage
REFERENCE 4 (bases 1 to 3510)
AUTHORS Koenig,U., Amatschek,S., Mildner,M., Eckhart,L. and Tschachler,E.
TITLE Aldehyde dehydrogenase 1A3 is transcriptionally activated by
all-trans-retinoic acid in human epidermal keratinocytes
JOURNAL Biochem. Biophys. Res. Commun. 400 (2), 207-211 (2010)
PUBMED 20709019
REMARK GeneRIF: these results indicate that the regulation of the retinoic
acid metabolism in the epidermis involves transcriptional
activation of ALDH1A3, possibly representing a positive feedback
loop, which enhances the effect of exogenous retinoic acid.
REFERENCE 5 (bases 1 to 3510)
AUTHORS Wan,C., Shi,Y., Zhao,X., Tang,W., Zhang,M., Ji,B., Zhu,H., Xu,Y.,
Li,H., Feng,G. and He,L.
TITLE Positive association between ALDH1A2 and schizophrenia in the
Chinese population
JOURNAL Prog. Neuropsychopharmacol. Biol. Psychiatry 33 (8), 1491-1495
(2009)
PUBMED 19703508
REMARK GeneRIF: Observational study of gene-disease association and
gene-gene interaction. (HuGE Navigator)
REFERENCE 6 (bases 1 to 3510)
AUTHORS Saito,A., Kawamoto,M. and Kamatani,N.
TITLE Association study between single-nucleotide polymorphisms in 199
drug-related genes and commonly measured quantitative traits of 752
healthy Japanese subjects
JOURNAL J. Hum. Genet. 54 (6), 317-323 (2009)
PUBMED 19343046
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 7 (bases 1 to 3510)
AUTHORS Nishimura,M., Yoshitsugu,H., Naito,S. and Hiraoka,I.
TITLE Evaluation of gene induction of drug-metabolizing enzymes and
transporters in primary culture of human hepatocytes using
high-sensitivity real-time reverse transcription PCR
JOURNAL Yakugaku Zasshi 122 (5), 339-361 (2002)
PUBMED 12040753
REFERENCE 8 (bases 1 to 3510)
AUTHORS Rexer,B.N., Zheng,W.L. and Ong,D.E.
TITLE Retinoic acid biosynthesis by normal human breast epithelium is via
aldehyde dehydrogenase 6, absent in MCF-7 cells
JOURNAL Cancer Res. 61 (19), 7065-7070 (2001)
PUBMED 11585737
REFERENCE 9 (bases 1 to 3510)
AUTHORS Yoshida,A., Rzhetsky,A., Hsu,L.C. and Chang,C.
TITLE Human aldehyde dehydrogenase gene family
JOURNAL Eur. J. Biochem. 251 (3), 549-557 (1998)
PUBMED 9490025
REMARK Review article
REFERENCE 10 (bases 1 to 3510)
AUTHORS Hsu,L.C., Chang,W.C., Hiraoka,L. and Hsieh,C.L.
TITLE Molecular cloning, genomic organization, and chromosomal
localization of an additional human aldehyde dehydrogenase gene,
ALDH6
JOURNAL Genomics 24 (2), 333-341 (1994)
PUBMED 7698756
REMARK GeneRIF: play a major role in the detoxification of aldehydes
generated by alcohol metabolism and lipid peroxidation.
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB480234.1 and BC069274.1.
This sequence is a reference standard in the RefSeqGene project.
On Jul 24, 2007 this sequence version replaced gi:4502040.
Summary: Aldehyde dehydrogenase isozymes are thought to play a
major role in the detoxification of aldehydes generated by alcohol
metabolism and lipid peroxidation. The enzyme encoded by this gene
uses retinal as a substrate, either in a free or cellular
retinol-binding protein form. [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 :: BC069274.1, U07919.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025083 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-48 DB480234.1 113-160
49-3510 BC069274.1 1-3462
FEATURES Location/Qualifiers
source 1..3510
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q26.3"
gene 1..3510
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/note="aldehyde dehydrogenase 1 family, member A3"
/db_xref="GeneID:220"
/db_xref="HGNC:409"
/db_xref="MIM:600463"
exon 1..203
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 13
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:375470805"
CDS 105..1643
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/EC_number="1.2.1.5"
/note="aldehyde dehydrogenase 6; retinaldehyde
dehydrogenase 3; acetaldehyde dehydrogenase 6; RALDH-3"
/codon_start=1
/product="aldehyde dehydrogenase family 1 member A3"
/protein_id="NP_000684.2"
/db_xref="GI:153266822"
/db_xref="CCDS:CCDS10389.1"
/db_xref="GeneID:220"
/db_xref="HGNC:409"
/db_xref="MIM:600463"
/translation="
MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKSGKKFATCNPSTREQICEVEEGDKPDVDKAVEAAQVAFQRGSPWRRLDALSRGRLLHQLADLVERDRATLAALETMDTGKPFLHAFFIDLEGCIRTLRYFAGWADKIQGKTIPTDDNVVCFTRHEPIGVCGAITPWNFPLLMLVWKLAPALCCGNTMVLKPAEQTPLTALYLGSLIKEAGFPPGVVNIVPGFGPTVGAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLELGGKNPCIVCADADLDLAVECAHQGVFFNQGQCCTAASRVFVEEQVYSEFVRRSVEYAKKRPVGDPFDVKTEQGPQIDQKQFDKILELIESGKKEGAKLECGGSAMEDKGLFIKPTVFSEVTDNMRIAKEEIFGPVQPILKFKSIEEVIKRANSTDYGLTAAVFTKNLDKALKLASALESGTVWINCYNALYAQAPFGGFKMSGNGRELGEYALAEYTEVKTVTIKLGDKNP
"
misc_feature 108..110
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylalanine; propagated from
UniProtKB/Swiss-Prot (P47895.2); acetylation site"
misc_feature 180..1622
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/note="NAD+-dependent retinal dehydrogenase 1, ALDH
families 1A, 1B, and 2-like; Region: ALDH_F1AB_F2_RALDH1;
cd07141"
/db_xref="CDD:143459"
misc_feature 222..1613
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/note="Aldehyde dehydrogenase family; Region: Aldedh;
pfam00171"
/db_xref="CDD:201055"
misc_feature order(354..359,369..371,378..380,384..386,396..398,
519..521,528..533,543..545,549..554,561..575,579..584,
591..614,891..893,900..902,909..914,921..926,930..932,
945..947,1440..1442,1446..1448,1467..1469,1476..1478,
1482..1505,1524..1532,1539..1550,1554..1556,1563..1565,
1578..1580,1599..1616,1620..1622)
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/note="homotetrameric interface [polypeptide binding];
other site"
/db_xref="CDD:143459"
misc_feature order(633..644,714..716,723..725,813..815,825..830,
867..869,876..878,885..887,945..950,1044..1046,1185..1187,
1194..1196,1335..1337)
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/note="NAD binding site [chemical binding]; other site"
/db_xref="CDD:143459"
misc_feature order(645..647,942..944,1035..1037,1044..1046)
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/note="catalytic residues [active]"
/db_xref="CDD:143459"
misc_feature 645..647
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="non-experimental evidence, no additional
details recorded"
/note="Transition state stabilizer (By similarity);
propagated from UniProtKB/Swiss-Prot (P47895.2); other
site"
variation 137
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:368010822"
variation 147
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1130737"
STS 203..1552
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/standard_name="Aldh1a3"
/db_xref="UniSTS:547583"
exon 204..308
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 227
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2229182"
variation 229
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:182607536"
variation 245
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:138741497"
variation 259
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:370256420"
variation 274
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:141876599"
exon 309..449
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 354
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:369355060"
variation 362
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:368918536"
variation 396
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:199537142"
variation 431
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146169888"
variation 438
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370671214"
exon 450..579
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 491
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:139132913"
variation 498
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:142560469"
variation 507
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:373337351"
variation 535
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="t"
/db_xref="dbSNP:200486213"
variation 568
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:201931276"
variation 570
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:113686214"
exon 580..641
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 585
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:113869203"
variation 591
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:150542846"
exon 642..770
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 665
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:139865715"
variation 686
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:371899693"
variation 696
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:374423113"
variation 722
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:367965632"
variation 740
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:149815923"
variation 741
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:371736673"
variation 752
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:368919800"
variation 753
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:371815578"
exon 771..884
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 774
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:377673187"
variation 794
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:61757679"
variation 812
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141807607"
variation 830
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:369627319"
variation 854
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:373589695"
exon 885..987
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 911
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:141536472"
variation 916
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:147665432"
variation 947
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:142377552"
variation 977
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:143278553"
exon 988..1172
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 1011
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:373643477"
variation 1049
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:2229183"
variation 1071
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:61624077"
variation 1085
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:140508229"
variation 1091
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146381363"
variation 1106
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:377179870"
variation 1130
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:138675893"
exon 1173..1337
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 1190
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:187280010"
variation 1191
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:141839784"
variation 1211
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:3803431"
variation 1212
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146286322"
variation 1238
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:112582857"
variation 1247
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:113661159"
variation 1260
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:3803430"
variation 1269
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:376953636"
exon 1338..1495
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 1358
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:113241774"
variation 1371
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:201386727"
variation 1399
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:375918217"
variation 1406
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:143880265"
variation 1410
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:145630728"
variation 1414
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:369860247"
variation 1448
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:146643806"
variation 1449
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:188694308"
variation 1453
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:142115253"
variation 1478
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:372614738"
variation 1479
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:147498604"
variation 1489
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:377271890"
variation 1490
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:140128387"
exon 1496..1570
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 1511
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:145659258"
variation 1512
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:147752643"
variation 1562
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200617229"
variation 1569
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:201444877"
exon 1571..3496
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/inference="alignment:Splign:1.39.8"
variation 1580
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:139684559"
variation 1589
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:367983812"
variation 1631
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:370866811"
variation 1637
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:199747569"
variation 1638
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:374029874"
variation 1646
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:111325102"
variation 1653
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:201216253"
variation 1674
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:4646690"
variation 1677
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:371987999"
variation 1678
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:79203665"
variation 1695
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:185395342"
variation 1746
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:77734193"
variation 1767
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:79145783"
STS 1770..1982
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/standard_name="D15S1345"
/db_xref="UniSTS:45142"
variation 1797
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="t"
/db_xref="dbSNP:376179481"
variation 1817
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:7182089"
variation 1827
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:142489050"
variation 1833
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:7161860"
variation 1849
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:370594639"
variation 1850
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:146962709"
variation 1851
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:3803426"
variation 1934
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:137974961"
variation 1990
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:189703242"
variation 2095
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:3803425"
variation 2106
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:369311482"
variation 2125..2126
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace=""
/replace="c"
/db_xref="dbSNP:35300460"
variation 2151
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace=""
/replace="t"
/db_xref="dbSNP:141992762"
variation 2170
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:28760343"
variation 2176
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:3803424"
variation 2291
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:148285612"
variation 2358
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:74696748"
variation 2429
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:181212672"
variation 2438
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:111843183"
variation 2505
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1130738"
variation 2519
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:186663531"
variation 2521
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:141341015"
variation 2661
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace=""
/replace="c"
/db_xref="dbSNP:371268481"
variation 2665
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:367691717"
variation 2673
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:191555726"
variation 2696
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="t"
/db_xref="dbSNP:4288979"
variation 2701
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:150787850"
variation 2788
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:78763805"
variation 2833..2834
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace=""
/replace="a"
/db_xref="dbSNP:34302490"
variation 2867
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:1802602"
variation 2871
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:183038230"
variation 2882
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:116457012"
variation 2914
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:368194028"
variation 2982
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:14226"
variation 2991
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:186109171"
variation 3046
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:190912866"
variation 3069
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="g"
/replace="t"
/db_xref="dbSNP:182115449"
variation 3167
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="g"
/db_xref="dbSNP:186713906"
variation 3176
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="t"
/db_xref="dbSNP:192785797"
variation 3177
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:142533835"
variation 3223
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="t"
/db_xref="dbSNP:371823276"
variation 3259
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:75072374"
variation 3332
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802604"
variation 3367
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:76952824"
STS 3378..3461
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/standard_name="RH66397"
/db_xref="UniSTS:28838"
variation 3432
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:182899837"
variation 3448
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="c"
/replace="t"
/db_xref="dbSNP:7045"
variation 3449
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1802603"
variation 3456
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
/replace="a"
/replace="c"
/db_xref="dbSNP:1130768"
polyA_signal 3474..3479
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
polyA_site 3496
/gene="ALDH1A3"
/gene_synonym="ALDH1A6; ALDH6; MCOP8; RALDH3"
ORIGIN
aaagcggcggggagctgccaccccgggagcgggctgcgcagtgtccgggccgagccggtgcgccgcagactagggcgcctcgggccagggagcgcggaggagccatggccaccgctaacggggccgtggaaaacgggcagccggacaggaagccgccggccctgccgcgccccatccgcaacctggaggtcaagttcaccaagatatttatcaacaatgaatggcacgaatccaagagtgggaaaaagtttgctacatgtaacccttcaactcgggagcaaatatgtgaagtggaagaaggagataagcccgacgtggacaaggctgtggaggctgcacaggttgccttccagaggggctcgccatggcgccggctggatgccctgagtcgtgggcggctgctgcaccagctggctgacctggtggagagggaccgcgccaccttggccgccctggagacgatggatacagggaagccatttcttcatgcttttttcatcgacctggagggctgtattagaaccctcagatactttgcagggtgggcagacaaaatccagggcaagaccatccccacagatgacaacgtcgtgtgcttcaccaggcatgagcccattggtgtctgtggggccatcactccatggaacttccccctgctgatgctggtgtggaagctggcacccgccctctgctgtgggaacaccatggtcctgaagcctgcggagcagacacctctcaccgccctttatctcggctctctgatcaaagaggccgggttccctccaggagtggtgaacattgtgccaggattcgggcccacagtgggagcagcaatttcttctcaccctcagatcaacaagatcgccttcaccggctccacagaggttggaaaactggttaaagaagctgcgtcccggagcaatctgaagcgggtgacgctggagctgggggggaagaacccctgcatcgtgtgtgcggacgctgacttggacttggcagtggagtgtgcccatcagggagtgttcttcaaccaaggccagtgttgcacggcagcctccagggtgttcgtggaggagcaggtctactctgagtttgtcaggcggagcgtggagtatgccaagaaacggcccgtgggagaccccttcgatgtcaaaacagaacaggggcctcagattgatcaaaagcagttcgacaaaatcttagagctgatcgagagtgggaagaaggaaggggccaagctggaatgcgggggctcagccatggaagacaaggggctcttcatcaaacccactgtcttctcagaagtcacagacaacatgcggattgccaaagaggagattttcgggccagtgcaaccaatactgaagttcaaaagtatcgaagaagtgataaaaagagcgaatagcaccgactatggactcacagcagccgtgttcacaaaaaatctcgacaaagccctgaagttggcttctgccttagagtctggaacggtctggatcaactgctacaacgccctctatgcacaggctccatttggtggctttaaaatgtcaggaaatggcagagaactaggtgaatacgctttggccgaatacacagaagtgaaaactgtcaccatcaaacttggcgacaagaacccctgaaggaaaggcggggctccttcctcaaacatcggacggcggaatgtggcagatgaaatgtgctggaggaaaaaaatgacatttctgaccttcccgggacacattcttctggaggctttacatctactggagttgaatgattgctgttttcctctcactctcctgtttattcaccagactggggatgcctataggttgtctgtgaaatcgcagtcctgcctggggagggagctgttggccatttctgtgtttccctttaaaccagatcctggagacagtgagatactcagggcgttgttaacagggagtggtatttgaagtgtccagcagttgcttgaaatgctttgccgaatctgactccagtaagaatgtgggaaaaccccctgtgtgttctgcaagcagggctcttgcaccagcggtctcctcagggtggacctgcttacagagcaagccacgcctctttccgaggtgaaggtgggaccattccttgggaaaggattcacagtaaggttttttggtttttgttttttgttttcttgtttttaaaaaaaggatttcacagtgagaaagttttggttagtgcataccgtggaagggcgccagggtctttgtggattgcatgttgacattgaccgtgagattcggcttcaaaccaatactgcctttggaatatgacagaatcaatagcccagagagcttagtcaaagacgatatcacggtctaccttaaccaaggcactttcttaagcagaaaatattgttgaggttacctttgctgctaaagatccaatcttctaacgccacaacagcatagcaaatcctaggataattcacctcctcatttgacaaatcagagctgtaattcgctttaacaaattacgcatttctatcacgttcactaacagcttatgataagtctgtgtagtcttccttttctccagttctgttacccaatttagattagtaaagcgtacacaactggaaagactgctgtaataacacagccttgttatttttaagtcctattttgatattaatttctgattagttagtaaataacacctggattctatggaggacctcggtcttcatccaagtggcctgagtatttcactggcaggttgtgaatttttcttttcctctttggggatccaaatgatgatgtgcaatttcatgttttaacttgggaaactgaaagtgttcccatatagcttcaaaaacaaaaacaaatgtgttatccgacggatacttttatggttactaactagtactttcctaattgggaaagtagtgcttaagtttgcaaattaagttggggagggcaataataaaatgagggcccgtaacagaaccagtgtgtgtataacgaaaaccatgtataaaatgggcctatcacccttgtcagagatataaattaccacatttgccttcccttcatcagctaacacttatcacttatactaccaataacttgttaaatcaggatttggcttcatacactgaattttcagtattttatctcaagtagatatagacactaaccttgatagtgatacgttagagggttcctattcttccattgtacgataatgtctttaatatgaaatgctacattatttataattggtagagttattgtatctttttatagttgtaagtacacagaggtggtatatttaaacttctgtaatatactgtatttagaaatggaaatatatatagtgttaggtttcacttcttttaaggtttacccctgtggtgtggtttaaaaatctataggcctgggaattccgatcctagctgcagatcgcatcccacaatgcgagaatgataaaataaaattggatatttgagaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:220 -> Molecular function: GO:0004029 [aldehyde dehydrogenase (NAD) activity] evidence: IEA
GeneID:220 -> Molecular function: GO:0004030 [aldehyde dehydrogenase [NAD(P)+] activity] evidence: IDA
GeneID:220 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IDA
GeneID:220 -> Molecular function: GO:0070324 [thyroid hormone binding] evidence: IEA
GeneID:220 -> Molecular function: GO:0070403 [NAD+ binding] evidence: IEA
GeneID:220 -> Biological process: GO:0002072 [optic cup morphogenesis involved in camera-type eye development] evidence: IEA
GeneID:220 -> Biological process: GO:0002138 [retinoic acid biosynthetic process] evidence: IEA
GeneID:220 -> Biological process: GO:0021768 [nucleus accumbens development] evidence: IEA
GeneID:220 -> Biological process: GO:0042572 [retinol metabolic process] evidence: IEA
GeneID:220 -> Biological process: GO:0042573 [retinoic acid metabolic process] evidence: IDA
GeneID:220 -> Biological process: GO:0042574 [retinal metabolic process] evidence: IDA
GeneID:220 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IEA
GeneID:220 -> Biological process: GO:0048048 [embryonic eye morphogenesis] evidence: ISS
GeneID:220 -> Biological process: GO:0060166 [olfactory pit development] evidence: IEA
GeneID:220 -> Biological process: GO:0060324 [face development] evidence: IEA
GeneID:220 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_000684 -> EC 1.2.1.5
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