ALDH8A1

ALDH8A1
Identifiers
Aliases	ALDH8A1 , aldehyde dehydrogenase 8 family, member A1, ALDH12, DJ352A20.2, aldehyde dehydrogenase 8 family member A1
External IDs	OMIM: 606467; MGI: 2653900; HomoloGene: 23369; GeneCards: ALDH8A1; OMA:ALDH8A1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6q23.3 Start 134,917,393 bp [1] End 134,950,115 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10|10 A3 Start 21,253,190 bp [2] End 21,272,484 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in kidney tubule liver glomerulus right lobe of liver metanephric glomerulus renal medulla human kidney testicle inferior olivary nucleus gonad Top expressed in right kidney human kidney left lobe of liver proximal tubule sexually immature organism embryo ureter human fetus muscle of thigh seminiferous tubule More reference expression data BioGPS n/a
Gene ontology Molecular function oxidoreductase activity retinal dehydrogenase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor aminomuconate-semialdehyde dehydrogenase activity Cellular component cytoplasm cytosol extracellular exosome intracellular anatomical structure Biological process metabolism 9-cis-retinoic acid biosynthetic process retinoic acid metabolic process retinal metabolic process L-kynurenine catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64577 237320 Ensembl ENSG00000118514 ENSMUSG00000037542 UniProt Q9H2A2 Q8BH00 RefSeq (mRNA) NM_001193480 NM_022568 NM_170771 NM_178713 RefSeq (protein) NP_001180409 NP_072090 NP_739577 NP_848828 Location (UCSC) Chr 6: 134.92 – 134.95 Mb Chr 10: 21.25 – 21.27 Mb PubMed search [3] [4]
Wikidata
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Aldehyde dehydrogenase 8 family, member A1 also known as ALDH8A1 is an enzyme that in humans is encoded by the ALDH8A1 gene. ^[5]

Function

This protein belongs to the aldehyde dehydrogenase family of enzymes. It was originally thought to play a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. However, bioinformatics and experimental work has shown that it is more likely the aldehyde dehydrogenase of the kynurenine pathway, oxidizing 2-aminomuconate semialdehyde to 2-aminomuconic acid. ^[6] Two transcript variants encoding distinct isoforms have been identified for this gene. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000118514 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037542 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Lin M, Napoli JL (December 2000). "cDNA cloning and expression of a human aldehyde dehydrogenase (ALDH) active with 9-cis-retinal and identification of a rat ortholog, ALDH12". The Journal of Biological Chemistry. 275 (51): 40106–12. doi: 10.1074/jbc.M008027200 . PMID   11007799.
6. Davis I, Yang Y, Wherritt D, Liu A (June 2018). "Reassignment of the human aldehyde dehydrogenase ALDH8A1 (ALDH12) to the kynurenine pathway in tryptophan catabolism". The Journal of Biological Chemistry. 293 (25): 9594–9603. doi: 10.1074/jbc.RA118.003320 . PMC   6016481 . PMID   29703752.
7. "Entrez Gene: ALDH8A1".

External links

• Human ALDH8A1 genome location and ALDH8A1 gene details page in the UCSC Genome Browser .

This article incorporates text from the United States National Library of Medicine, which is in the public domain.