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UniProtKB/Swiss-Prot entry O94788

[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name AL1A2_HUMAN
Primary accession number O94788
Secondary accession numbers Q2PJS6 Q8NHQ4 Q9UBR8 Q9UFY0
Integrated into Swiss-Prot on July 15, 1999
Sequence was last modified on March 7, 2006 (Sequence version 3)
Annotations were last modified on    July 22, 2008 (Entry version 76)
Name and origin of the protein
Protein name Retinal dehydrogenase 2
Synonyms RALDH 2
RalDH2
EC 1.2.1.36
Aldehyde dehydrogenase family 1 member A2
Retinaldehyde-specific dehydrogenase type 2
RALDH(II)
Gene name
Name: ALDH1A2
Synonyms: RALDH2
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
 NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ILE-348.
PubMed=9819382 [NCBI, ExPASy, EBI, Israel, Japan]
Ono Y., Fukuhara N., Yoshie O.;
"TAL1 and LIM-only proteins synergistically induce retinaldehyde dehydrogenase 2 expression in T-cell acute lymphoblastic leukemia by acting as cofactors for GATA3.";
Mol. Cell. Biol. 18:6939-6950(1998).
[2]
 NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLY-50; VAL-110; ILE-348 AND LYS-436.
Livingston R.J., Rieder M.J., Shaffer T., Bertucci C., Baier C.N., Rajkumar N., Willa H.T., Daniels M., Downing T.K., Stanaway I.B., Nguyen C.P., Gildersleeve H., Cassidy C.M., Johnson E.J., Swanson J.E., McFarland I., Yool B., Park C., Nickerson D.A.;
"NIEHS-SNPs, Environmental Genome Project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases.
[3]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Testis;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 302-518 (ISOFORMS 1/2), AND VARIANT ILE-348.
TISSUE=Testis;
The German cDNA consortium;
Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases.
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AB015226; BAA34785.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB015227; BAA34786.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB015228; BAA34787.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
DQ322171; ABC40749.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC030589; AAH30589.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL110299; CAB53740.2; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR T14799; T14799.
RefSeq NP_003879.2; -.
NP_733797.1; -.
NP_733798.1; -.
UniGene Hs.699620
3D structure databases
HSSP Q63639; 1BI9. [HSSP ENTRY / PDB]
ModBase O94788.
PTM databases
PhosphoSite O94788; -.
Polymorphism databases
NIEHS-SNPs ALDH1A2.
Organism-specific databases
H-InvDB HIX0012280; -.
HGNC HGNC:15472; ALDH1A2.
GenAtlas ALDH1A2.
HPA HPA010022; -.
MIM 603687; gene. [NCBI / EBI]
PharmGKB PA24693; -.
GeneCards O94788.
Gene expression databases
ArrayExpress O94788; -.
CleanEx HS_ALDH1A2; -.
GermOnline ENSG00000128918; Homo sapiens.
Ontologies
GO
GO:0004028; Molecular function: 3-chloroallyl aldehyde dehydrogenase activity (traceable author statement from ProtInc).
GO:0009055; Molecular function: electron carrier activity (traceable author statement from UniProtKB).
GO:0006776; Biological process: vitamin A metabolic process (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR016160; Ald_DHase_CS.
IPR016162; Ald_DHase_N.
IPR015590; Aldehyde_DHase.
Graphical view of domain structure.
Gene3D G3DSA:3.40.605.10; Aldehyde_dehydrogenase_N; 1.
PANTHER PTHR11699; Aldehyde_dehyd; 1.
Pfam PF00171; Aldedh; 1.
Pfam graphical view of domain structure.
PROSITE PS00070; ALDEHYDE_DEHYDR_CYS; 1.
PS00687; ALDEHYDE_DEHYDR_GLU; 1.
BLOCKS O94788.
Genome annotation databases
Ensembl ENSG00000128918; Homo sapiens. [Contig view]
GeneID 8854; -.
KEGG hsa:8854; -.
NMPDR fig|9606.3.peg.10760; -.
Phylogenomic databases
HOGENOM O94788; -.
HOVERGEN O94788; -.
Other
DrugBank DB00157; NADH.
DB00755; Tretinoin.
DB00162; Vitamin A.
SOURCE ALDH1A2; Homo sapiens.
ProtoNet O94788.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Cytoplasm; NAD; Oxidoreductase; Phosphoprotein; Polymorphism.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
CHAIN   1   518  518     Retinal dehydrogenase 2. PRO_0000056422
NP_BIND   263   268  6     NAD (By similarity). 
ACT_SITE   286   286        Proton acceptor (By similarity). 
ACT_SITE   320   320        Nucleophile (By similarity). 
SITE   187   187  1     Transition state stabilizer (By similarity). 
MOD_RES   122   122        Phosphothreonine (By similarity). 
VAR_SEQ   229   266        Missing (in isoform 2). VSP_017363
VARIANT   50    50  1     E -> G. VAR_025439 [3D]
VARIANT   110   110  1     A -> V. VAR_025440 [3D]
VARIANT   348   348  1     V -> I (in dbSNP:rs4646626 [NCBI]). VAR_025441 [3D]
VARIANT   436   436  1     E -> K. VAR_025442 [3D]
Sequence information
Length: 518 AA [This is the length of the unprocessed precursor] Molecular weight: 56724 Da [This is the MW of the unprocessed precursor] CRC64: AAEE7A886951373F [This is a checksum on the sequence] 
        10         20         30         40         50         60 
MTSSKIEMPG EVKADPAALM ASLHLLPSPT PNLEIKYTKI FINNEWQNSE SGRVFPVYNP 

        70         80         90        100        110        120 
ATGEQVCEVQ EADKADIDKA VQAARLAFSL GSVWRRMDAS ERGRLLDKLA DLVERDRAVL 

       130        140        150        160        170        180 
ATMESLNGGK PFLQAFYVDL QGVIKTFRYY AGWADKIHGM TIPVDGDYFT FTRHEPIGVC 

       190        200        210        220        230        240 
GQIIPWNFPL LMFAWKIAPA LCCGNTVVIK PAEQTPLSAL YMGALIKEAG FPPGVINILP 

       250        260        270        280        290        300 
GYGPTAGAAI ASHIGIDKIA FTGSTEVGKL IQEAAGRSNL KRVTLELGGK SPNIIFADAD 

       310        320        330        340        350        360 
LDYAVEQAHQ GVFFNQGQCC TAGSRIFVEE SIYEEFVRRS VERAKRRVVG SPFDPTTEQG 

       370        380        390        400        410        420 
PQIDKKQYNK ILELIQSGVA EGAKLECGGK GLGRKGFFIE PTVFSNVTDD MRIAKEEIFG 

       430        440        450        460        470        480 
PVQEILRFKT MDEVIERANN SDFGLVAAVF TNDINKALTV SSAMQAGTVW INCYNALNAQ 

       490        500        510 
SPFGGFKMSG NGREMGEFGL REYSEVKTVT VKIPQKNS
O94788 in FASTA format

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