ALDH1A3

Aldehyde dehydrogenase 1 family, member A3, also known as ALDH1A3 or retinaldehyde dehydrogenase 3 (RALDH3), is an enzyme that in humans is encoded by the ALDH1A3 gene,[5]

ALDH1A3
Identifiers
Aliases	ALDH1A3, ALDH1A6, ALDH6, MCOP8, RALDH3, aldehyde dehydrogenase 1 family member A3
External IDs	OMIM: 600463 MGI: 1861722 HomoloGene: 68080 GeneCards: ALDH1A3
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q26.3 Start 100,877,714 bp[1] End 100,916,626 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 C Start 66,390,890 bp[2] End 66,427,517 bp[2]
Gene ontology Molecular function • protein homodimerization activity • aldehyde dehydrogenase [NAD(P)+ activity] • NAD+ binding • oxidoreductase activity • aldehyde dehydrogenase (NAD) activity • thyroid hormone binding • retinal dehydrogenase activity • oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Cellular component • cytoplasm • extracellular exosome • cell nucleus • cytosol • cell membrane Biological process • locomotory behavior • neuromuscular process controlling balance • retinol metabolic process • embryonic eye morphogenesis • nucleus accumbens development • retinoic acid metabolic process • olfactory pit development • retinal metabolic process • face development • inner ear morphogenesis • positive regulation of apoptotic process • optic cup morphogenesis involved in camera-type eye development • metabolism • righting reflex • oxidation-reduction process • retinoic acid biosynthetic process • embryonic camera-type eye development • nose development • protein homotetramerization • Harderian gland development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	220	56847
Ensembl	ENSG00000184254	ENSMUSG00000015134
UniProt	P47895	Q9JHW9
RefSeq (mRNA)	NM_001293815 NM_000693 NM_001037224	NM_053080
RefSeq (protein)	NP_000684 NP_001280744	NP_444310
Location (UCSC)	Chr 15: 100.88 – 100.92 Mb	Chr 7: 66.39 – 66.43 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The enzyme encoded by this gene uses retinal as a substrate, either in a free or a cellular retinol-binding protein form.[6]

Cancer

ALDH1A3 gene has been observed progressively downregulated in Human papillomavirus-positive neoplastic keratinocytes derived from uterine cervical preneoplastic lesions at different levels of malignancy. [7] For this reason, ALDH1A3 is likely to be associated with tumorigenesis and may be a potential prognostic marker for uterine cervical preneoplastic lesions progression. [7]

References

1. GRCh38: Ensembl release 89: ENSG00000184254 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000015134 - 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. Hsu LC, Chang WC, Hiraoka L, Hsieh CL (November 1994). "Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6". Genomics. 24 (2): 333–41. doi:10.1006/geno.1994.1624. PMID 7698756.
6. "Entrez Gene: ALDH1A3".
7. Rotondo JC, Bosi S, Bassi C, Ferracin M, Lanza G, Gafà R, Magri E, Selvatici R, Torresani S, Marci R, Garutti P, Negrini M, Tognon M, Martini F (April 2015). "Gene expression changes in progression of cervical neoplasia revealed by microarray analysis of cervical neoplastic keratinocytes". J Cell Physiol. 230 (4): 802–812. doi:10.1002/jcp.24808. PMID 25205602.

External links

• Human ALDH1A3 genome location and ALDH1A3 gene details page in the UCSC Genome Browser.

Further reading

• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Wan C, Shi Y, Zhao X, et al. (2009). "Positive association between ALDH1A2 and schizophrenia in the Chinese population". Prog. Neuropsychopharmacol. Biol. Psychiatry. 33 (8): 1491–5. doi:10.1016/j.pnpbp.2009.08.008. PMID 19703508.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Nishimura M, Yoshitsugu H, Naito S, Hiraoka I (2002). "Evaluation of gene induction of drug-metabolizing enzymes and transporters in primary culture of human hepatocytes using high-sensitivity real-time reverse transcription PCR". Yakugaku Zasshi. 122 (5): 339–61. doi:10.1248/yakushi.122.339. PMID 12040753.
• Cañestro C, Catchen JM, Rodríguez-Marí A, et al. (2009). Gojobori T (ed.). "Consequences of lineage-specific gene loss on functional evolution of surviving paralogs: ALDH1A and retinoic acid signaling in vertebrate genomes". PLoS Genet. 5 (5): e1000496. doi:10.1371/journal.pgen.1000496. PMC 2682703. PMID 19478994.
• Saito A, Kawamoto M, Kamatani N (2009). "Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects". J. Hum. Genet. 54 (6): 317–23. doi:10.1038/jhg.2009.31. PMID 19343046.
• Rexer BN, Zheng WL, Ong DE (2001). "Retinoic acid biosynthesis by normal human breast epithelium is via aldehyde dehydrogenase 6, absent in MCF-7 cells". Cancer Res. 61 (19): 7065–70. PMID 11585737.
• Yoshida A, Rzhetsky A, Hsu LC, Chang C (1998). "Human aldehyde dehydrogenase gene family". Eur. J. Biochem. 251 (3): 549–57. doi:10.1046/j.1432-1327.1998.2510549.x. PMID 9490025.

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