P47895 (AL1A3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 118.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Aldehyde dehydrogenase family 1 member A3 EC=1.2.1.5 Alternative name(s): Aldehyde dehydrogenase 6 Retinaldehyde dehydrogenase 3 Short name=RALDH-3 Short name=RalDH3 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference 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 | 512 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system By similarity. |
| Catalytic activity | An aldehyde + NAD(P)+ + H2O = a carboxylate + NAD(P)H. |
| Pathway | |
| Subcellular location | Cytoplasm By similarity. |
| Tissue specificity | Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney. |
| Sequence similarities | Belongs to the aldehyde dehydrogenase family. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.3 | ||||||
| Chain | 2 – 512 | 511 | Aldehyde dehydrogenase family 1 member A3 | PRO_0000056478 | |||||
Regions | |||||||||
| Nucleotide binding | 257 – 262 | 6 | NAD By similarity | ||||||
Sites | |||||||||
| Active site | 280 | 1 | Proton acceptor By similarity | ||||||
| Active site | 314 | 1 | Nucleophile By similarity | ||||||
| Site | 181 | 1 | Transition state stabilizer By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.3 | ||||||
Natural variations | |||||||||
| Natural variant | 386 | 1 | M → V. Corresponds to variant rs3803430 [ dbSNP | Ensembl ]. | VAR_019706 | |||||
Experimental info | |||||||||
| Sequence conflict | 15 | 1 | R → G in AAA79036. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6." Hsu L.C., Chang W.-C., Hiraoka L., Hsieh C.-L. Genomics 24:333-341(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Salivary gland. |
| [2] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Pancreas. |
| [3] | Bienvenut W.V., Dozynkiewicz M., Norman J.C. Submitted (MAR-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-15; 253-263; 407-421; 432-446 AND 488-501, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, MASS SPECTROMETRY. Tissue: Ovarian carcinoma. |
| [4] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U07919 mRNA. Translation: AAA79036.1. BC069274 mRNA. Translation: AAH69274.1. |
| IPI | IPI00026663. |
| PIR | A55684. |
| RefSeq | NP_000684.2. NM_000693.2. |
| UniGene | Hs.459538. |
3D structure databases | |
| ProteinModelPortal | P47895. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000332256. |
PTM databases | |
| PhosphoSite | P47895. |
Polymorphism databases | |
| DMDM | 52788258. |
Proteomic databases | |
| PaxDb | P47895. |
| PeptideAtlas | P47895. |
| PRIDE | P47895. |
Protocols and materials databases | |
| DNASU | 220. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000329841; ENSP00000332256; ENSG00000184254. |
| GeneID | 220. |
| KEGG | hsa:220. |
| UCSC | uc002bwn.4. human. |
Organism-specific databases | |
| CTD | 220. |
| GeneCards | GC15P101419. |
| H-InvDB | HIX0026851. |
| HGNC | HGNC:409. ALDH1A3. |
| HPA | HPA046271. |
| MIM | 600463. gene. |
| neXtProt | NX_P47895. |
| PharmGKB | PA24694. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1012. |
| HOGENOM | HOG000271505. |
| HOVERGEN | HBG000097. |
| InParanoid | P47895. |
| KO | K00129. |
| OMA | LVWKMAP. |
| OrthoDB | EOG4Z8XW6. |
| PhylomeDB | P47895. |
Enzyme and pathway databases | |
| BioCyc | MetaCyc:HS00013-MONOMER. |
| UniPathway | UPA00912. |
Gene expression databases | |
| ArrayExpress | P47895. |
| Bgee | P47895. |
| CleanEx | HS_ALDH1A3. |
| Genevestigator | P47895. |
| GermOnline | ENSG00000184254. Homo sapiens. |
Family and domain databases | |
| Gene3D | 3.40.309.10. 1 hit. 3.40.605.10. 1 hit. |
| InterPro | IPR016161. Ald_DH/histidinol_DH. IPR016163. Ald_DH_C. IPR016160. Ald_DH_CS. IPR016162. Ald_DH_N. IPR015590. Aldehyde_DH_dom. [Graphical view] |
| Pfam | PF00171. Aldedh. 1 hit. [Graphical view] |
| SUPFAM | SSF53720. Aldehyde_DH/Histidinol_DH. 1 hit. |
| PROSITE | PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit. PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChEMBL | CHEMBL3579. |
| DrugBank | DB00157. NADH. DB00162. Vitamin A. |
| GenomeRNAi | 220. |
| NextBio | 890. |
| SOURCE | Search... |
Entry information
| Entry name | AL1A3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P47895 Secondary accession number(s): Q6NT64 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| 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
