ALDH1A2
Summary: This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| aldehyde dehydrogenase 1 family member A2 | MIM:603687 | Ensembl:ENSG00000128918 | HGNC:HGNC:15472 | PA24693 | 15q21.3 |
Gene Categories:
DRUGGABLE GENOMEGO terms in ALDH1A2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0048471 | perinuclear region of cytoplasm |
| BP | IEA | GO:0001568 | blood vessel development |
| BP | IEA | GO:0001822 | kidney development |
| BP | IEA | GO:0001889 | liver development |
| BP | IEA | GO:0001936 | regulation of endothelial cell proliferation |
| BP | IEA | GO:0003007 | heart morphogenesis |
| BP | NAS | GO:0006776 | vitamin A metabolic process |
| BP | IEA | GO:0007494 | midgut development |
| BP | IEA | GO:0008284 | positive regulation of cell proliferation |
| BP | IDA | GO:0008285 | negative regulation of cell proliferation |
| BP | IEA | GO:0009855 | determination of bilateral symmetry |
| BP | IEA | GO:0009954 | proximal/distal pattern formation |
| BP | IEA | GO:0010628 | positive regulation of gene expression |
| BP | IEA | GO:0014032 | neural crest cell development |
| BP | IEA | GO:0016331 | morphogenesis of embryonic epithelium |
| BP | IMP | GO:0021915 | neural tube development |
| BP | IEA | GO:0021983 | pituitary gland development |
| BP | IEA | GO:0030182 | neuron differentiation |
| BP | IEA | GO:0030324 | lung development |
| BP | IEA | GO:0030902 | hindbrain development |
| BP | IEA | GO:0031016 | pancreas development |
| BP | IEA | GO:0031076 | embryonic camera-type eye development |
| BP | IEA | GO:0032355 | response to estradiol |
| BP | IEA | GO:0033189 | response to vitamin A |
| BP | IDA | GO:0034097 | response to cytokine |
| BP | IEA | GO:0035115 | embryonic forelimb morphogenesis |
| BP | IEA | GO:0035799 | ureter maturation |
| BP | IEA | GO:0042572 | retinol metabolic process |
| BP | ISS | GO:0042573 | retinoic acid metabolic process |
| BP | IEA | GO:0042574 | retinal metabolic process |
| BP | IEA | GO:0042904 | 9-cis-retinoic acid biosynthetic process |
| BP | IEA | GO:0043065 | positive regulation of apoptotic process |
| BP | IEA | GO:0048566 | embryonic digestive tract development |
| BP | IEA | GO:0048738 | cardiac muscle tissue development |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| BP | IEA | GO:0060324 | face development |
| BP | IEA | GO:0071300 | cellular response to retinoic acid |
| BP | IEA | GO:0090242 | retinoic acid receptor signaling pathway involved in somitogenesis |
| MF | ISS | GO:0001758 | retinal dehydrogenase activity |
| MF | TAS | GO:0001758 | retinal dehydrogenase activity |
| MF | ISS | GO:0004028 | 3-chloroallyl aldehyde dehydrogenase activity |
| MF | IBA | GO:0004029 | aldehyde dehydrogenase (NAD) activity |
| MF | ISS | GO:0016918 | retinal binding |
Gene expression in normal tissue: ALDH1A2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ALDH1A2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-5362517 | Signaling by Retinoic Acid |
| reactome | R-HSA-5365859 | RA biosynthesis pathway |
| reactome | R-HSA-9006931 | Signaling by Nuclear Receptors |
| kegg | hsa00830 | Retinol metabolism - Homo sapiens (human) |
| humancyc | PWY-6872 | retinoate biosynthesis I |
| wikipathways | WP3996 | Ethanol effects on histone modifications |
| wikipathways | WP465 | Tryptophan metabolism |
| wikipathways | WP716 | Vitamin A and Carotenoid Metabolism |
| smpdb | SMP00074 | Retinol Metabolism |
| smpdb | SMP00336 | Vitamin A Deficiency |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ALDH1A2
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.