ALDH16A1

Protein-coding gene in the species Homo sapiens
ALDH16A1
Identifiers
AliasesALDH16A1, aldehyde dehydrogenase 16 family member A1
External IDsOMIM: 613358; MGI: 1916998; HomoloGene: 34938; GeneCards: ALDH16A1; OMA:ALDH16A1 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for ALDH16A1
Genomic location for ALDH16A1
Band19q13.33Start49,453,225 bp[1]
End49,471,050 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for ALDH16A1
Genomic location for ALDH16A1
Band7|7 B3Start44,790,108 bp[2]
End44,804,008 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 7: 44.79 – 44.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000161618 – Ensembl, May 2017
  2. ^ a b c 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.

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.


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