Protein-coding gene in the species Homo sapiens
ALDH1A3 |
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Identifiers |
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Aliases | ALDH1A3, ALDH1A6, ALDH6, MCOP8, RALDH3, aldehyde dehydrogenase 1 family member A3 |
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External IDs | OMIM: 600463; MGI: 1861722; HomoloGene: 68080; GeneCards: ALDH1A3; OMA:ALDH1A3 - orthologs |
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Gene location (Human) |
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![Chromosome 15 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/0/07/Ideogram_human_chromosome_15.svg/300px-Ideogram_human_chromosome_15.svg.png) | Chr. | Chromosome 15 (human)[1] |
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| Band | 15q26.3 | Start | 100,877,714 bp[1] |
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End | 100,916,626 bp[1] |
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Gene location (Mouse) |
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![Chromosome 7 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/e/e4/Ideogram_house_mouse_chromosome_7.svg/260px-Ideogram_house_mouse_chromosome_7.svg.png) | Chr. | Chromosome 7 (mouse)[2] |
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| Band | 7|7 C | Start | 66,040,638 bp[2] |
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End | 66,077,265 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - palpebral conjunctiva
- retinal pigment epithelium
- parietal pleura
- parotid gland
- prostate
- germinal epithelium
- periodontal fiber
- urethra
- minor salivary glands
- tail of epididymis
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| Top expressed in | - vestibular sensory epithelium
- saccule
- utricle
- Nasal placode
- corneal stroma
- conjunctival fornix
- medullary collecting duct
- renal pelvis
- cochlear nerve
- corneal epithelium
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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
- nucleus
- cytosol
- plasma 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
- retinoic acid biosynthetic process
- embryonic camera-type eye development
- nose development
- protein homotetramerization
- Harderian gland development
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001293815 NM_000693 NM_001037224 |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 15: 100.88 – 100.92 Mb | Chr 7: 66.04 – 66.08 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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]
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000184254 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015134 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ "Entrez Gene: ALDH1A3".
- ^ a b 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. hdl:11392/2066612. PMID 25205602. S2CID 24986454.
External links
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. S2CID 32862839.
- 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. Bibcode:2002PNAS...9916899M. 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.
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