ALDH8A1

Protein-coding gene in the species Homo sapiens
ALDH8A1
Identifiers
AliasesALDH8A1, aldehyde dehydrogenase 8 family, member A1, ALDH12, DJ352A20.2, aldehyde dehydrogenase 8 family member A1
External IDsOMIM: 606467; MGI: 2653900; HomoloGene: 23369; GeneCards: ALDH8A1; OMA:ALDH8A1 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for ALDH8A1
Genomic location for ALDH8A1
Band6q23.3Start134,917,393 bp[1]
End134,950,115 bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for ALDH8A1
Genomic location for ALDH8A1
Band10|10 A3Start21,253,190 bp[2]
End21,272,484 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 10: 21.25 – 21.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000118514 – Ensembl, May 2017
  2. ^ a b c 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

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

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