Reviewed,
UniProtKB/Swiss-Prot O94788 (AL1A2_HUMAN)
Last modified
January 19, 2010.
Version 94.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Retinal dehydrogenase 2 Short name=RALDH 2 Short name=RalDH2 EC=1.2.1.36 Alternative name(s): Aldehyde dehydrogenase family 1 member A2 Retinaldehyde-specific dehydrogenase type 2 Short name=RALDH(II) | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 518 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Does metabolize octanal and decanal but does not metabolize citral, benzaldehyde, acetaldehyde and propanal efficiently By similarity. |
| Catalytic activity | Retinal + NAD+ + H2O = retinoate + NADH. |
| Pathway | |
| Subunit structure | Homotetramer By similarity. |
| Subcellular location | |
| Sequence similarities | Belongs to the aldehyde dehydrogenase family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Ligand | NAD |
| Molecular function | Oxidoreductase |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | negative regulation of cell proliferation Inferred from direct assay. Source: UniProtKB neural tube developmentInferred from mutant phenotype. Source: UniProtKB oxidation reductionInferred from electronic annotation. Source: UniProtKB-KW response to cytokine stimulusInferred from direct assay. Source: UniProtKB |
| Cellular component | nucleus Inferred from direct assay. Source: HPA |
| Molecular function | 3-chloroallyl aldehyde dehydrogenase activity Inferred from sequence or structural similarity. Source: UniProtKB retinal bindingInferred from sequence or structural similarity. Source: UniProtKB retinal dehydrogenase activityInferred from sequence or structural similarity. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O94788-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: O94788-2) The sequence of this isoform differs from the canonical sequence as follows: 229-266: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 518 | 518 | Retinal dehydrogenase 2 | PRO_0000056422 | |||||
Regions | |||||||||
| Nucleotide binding | 263 – 268 | 6 | NAD By similarity | ||||||
Sites | |||||||||
| Active site | 286 | 1 | Proton acceptor By similarity | ||||||
| Active site | 320 | 1 | Nucleophile By similarity | ||||||
| Site | 187 | 1 | Transition state stabilizer By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 122 | 1 | Phosphothreonine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 229 – 266 | 38 | Missing in isoform 2. | VSP_017363 | |||||
| Natural variant | 50 | 1 | E → G: dbSNP rs34266719. Ref.3 | VAR_025439 | |||||
| Natural variant | 110 | 1 | A → V: dbSNP rs35365164. Ref.3 | VAR_025440 | |||||
| Natural variant | 348 | 1 | V → I: dbSNP rs4646626. Ref.3 Ref.1 Ref.2 Ref.5 | VAR_025441 | |||||
| Natural variant | 436 | 1 | E → K: dbSNP rs34744827. Ref.3 | VAR_025442 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "TAL1 and LIM-only proteins synergistically induce retinaldehyde dehydrogenase 2 expression in T-cell acute lymphoblastic leukemia by acting as cofactors for GATA3." Ono Y., Fukuhara N., Yoshie O. Mol. Cell. Biol. 18:6939-6950(1998) [PubMed: 9819382] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-348. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-348. Tissue: Uterus. |
| [3] | NIEHS SNPs program Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-50; VAL-110; ILE-348 AND LYS-436. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis. |
| [5] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 302-518 (ISOFORMS 1/2), VARIANT ILE-348. Tissue: Testis. |
| [6] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB015226 mRNA. Translation: BAA34785.1. AB015227 mRNA. Translation: BAA34786.1. Different initiation. AB015228 mRNA. Translation: BAA34787.1. Different initiation. AK128709 mRNA. Translation: BAG54714.1. DQ322171 Genomic DNA. Translation: ABC40749.1. BC030589 mRNA. Translation: AAH30589.1. AL110299 mRNA. Translation: CAB53740.2. |
| IPI | IPI00169288. IPI00216805. |
| PIR | T14799. |
| RefSeq | NP_003879.2. NP_733797.1. NP_733798.1. |
| UniGene | Hs.643455 |
3D structure databases | |
| SMR | O94788. Positions 20-518. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O94788. 1 interaction. |
| STRING | O94788. |
PTM databases | |
| PhosphoSite | O94788. |
Proteomic databases | |
| PRIDE | O94788. |
Genome annotation databases | |
| Ensembl | ENST00000249750; ENSP00000249750; ENSG00000128918; Homo sapiens. [Genome view] |
| GeneID | 8854. |
| KEGG | hsa:8854. |
| NMPDR | fig|9606.3.peg.10760. |
| UCSC | uc002aew.1. human. uc002aey.1. human. |
Organism-specific databases | |
| CTD | 8854. |
| GeneCards | GC15M056032. |
| H-InvDB | HIX0012280. |
| HGNC | HGNC:15472. ALDH1A2. |
| HPA | HPA010022. |
| MIM | 603687. gene. |
| PharmGKB | PA24693. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG12598. |
| HOGENOM | HBG752218. |
| HOVERGEN | O94788. |
| InParanoid | O94788. |
| OMA | HVGIDKI. |
| PhylomeDB | O94788. |
Enzyme and pathway databases | |
| BRENDA | 1.2.1.36. 247. |
Gene expression databases | |
| ArrayExpress | O94788. |
| Bgee | O94788. |
| CleanEx | HS_ALDH1A2. |
| Genevestigator | O94788. |
| GermOnline | ENSG00000128918. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR016161. Ald_DH/histidinol_DH. IPR016160. Ald_DH_CS. IPR016162. Ald_DH_N. IPR015590. Aldehyde_DH. [Graphical view] |
| Gene3D | G3DSA:3.40.605.10. Aldehyde_dehydrogenase_N. 1 hit. |
| PANTHER | PTHR11699. Aldehyde_dehyd. 1 hit. |
| Pfam | PF00171. Aldedh. 1 hit. [Graphical view] |
| PROSITE | PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit. PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00157. NADH. DB00755. Tretinoin. DB00162. Vitamin A. |
| NextBio | 33241. |
| SOURCE | Search... |
Entry information
| Entry name | AL1A2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O94788 Secondary accession number(s): B3KY52 Q9UFY0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 15 Human chromosome 15: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with


