ALDH16A1

ALDH16A1
Identifiers
Aliases	ALDH16A1 , aldehyde dehydrogenase 16 family member A1
External IDs	OMIM: 613358; MGI: 1916998; HomoloGene: 34938; GeneCards: ALDH16A1; OMA:ALDH16A1 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.33 Start 49,453,225 bp [1] End 49,471,050 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 B3 Start 44,790,108 bp [2] End 44,804,008 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte spleen mucosa of transverse colon canal of the cervix ectocervix apex of heart right lobe of liver body of pancreas right adrenal gland skin of leg Top expressed in duodenum right kidney proximal tubule jejunum granulocyte epithelium of small intestine crypt of lieberkuhn of small intestine interventricular septum internal carotid artery ileum More reference expression data BioGPS n/a
Gene ontology Molecular function oxidoreductase activity aldehyde dehydrogenase (NAD+) activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Cellular component extracellular exosome membrane Biological process metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 126133 69748 Ensembl ENSG00000161618 ENSMUSG00000007833 UniProt Q8IZ83 Q571I9 RefSeq (mRNA) NM_001145396 NM_153329 NM_145954 RefSeq (protein) NP_001138868 NP_699160 NP_666066 Location (UCSC) Chr 19: 49.45 – 49.47 Mb Chr 7: 44.79 – 44.8 Mb PubMed search [3] [4]
Wikidata
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Aldehyde dehydrogenase 16 family, member A1 also known as ALDH16A1 is an aldehyde dehydrogenase gene.

Clinical significance

Mutations in the SPG21 (ACP33/maspardin) gene are associated with the mast syndrome, a type of spastic paraplegia. The protein encoded by the SPG21 gene has been shown to interact with the ALDH16A1 enzyme. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000161618 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000007833 – 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. Hanna MC, Blackstone C (January 2009). "Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1". Neurogenetics. 10 (3): 217–28. doi:10.1007/s10048-009-0172-6. PMC   5585778 . PMID   19184135.

External links

• Human ALDH16A1 genome location and ALDH16A1 gene details page in the UCSC Genome Browser .

Further reading

• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC   139146 . PMID   9110174.
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID   8619474.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• 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.
• Sowa ME, Bennett EJ, Gygi SP, Harper JW (2009). "Defining the human deubiquitinating enzyme interaction landscape". Cell. 138 (2): 389–403. doi:10.1016/j.cell.2009.04.042. PMC   2716422 . PMID   19615732.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1) 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.