Jump to content

ALDH1A1

From Wikipedia, the free encyclopedia
ALDH1A1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesALDH1A1, ALDC, ALDH-E1, ALDH1, ALDH11, HEL-9, HEL-S-53e, HEL12, PUMB1, RALDH1, aldehyde dehydrogenase 1 family member A1
External IDsOMIM: 100640; MGI: 1353450; HomoloGene: 110441; GeneCards: ALDH1A1; OMA:ALDH1A1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000689

NM_013467

RefSeq (protein)

NP_000680

NP_038495
NP_001348432
NP_001348433
NP_001348434
NP_001348435

Location (UCSC)Chr 9: 72.9 – 73.08 MbChr 19: 20.49 – 20.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Aldehyde dehydrogenase 1 family, member A1, also known as ALDH1A1 or retinaldehyde dehydrogenase 1 (RALDH1), is an enzyme that is encoded by the ALDH1A1 gene.[5][6]

Function

[edit]

This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations; this gene encodes the main cytosolic isoform, which has a lower affinity for aldehydes than the mitochondrial enzyme.[7] Most Caucasians have two major isozymes, while approximately 50% of East Asians have only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of the mitochondrial isozyme. Furthermore, mutations in this enzyme have been linked to alcoholism in humans.[8][9]

ALDH1A1 also belongs to the group of corneal crystallins that help maintain the transparency of the cornea.[10] ALDH1A1 maintains stemness of cancer cells and several drugs have been designed to target cancer stem cells by targeting ALDH1A1.[11]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165092Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053279Ensembl, 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. ^ Pereira F, Rosenmann E, Nylen E, Kaufman M, Pinsky L, Wrogemann K (March 1991). "The 56 kDa androgen binding protein is an aldehyde dehydrogenase". Biochemical and Biophysical Research Communications. 175 (3): 831–8. doi:10.1016/0006-291X(91)91640-X. PMID 1709013.
  6. ^ Hsu LC, Tani K, Fujiyoshi T, Kurachi K, Yoshida A (June 1985). "Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2". Proceedings of the National Academy of Sciences of the United States of America. 82 (11): 3771–5. Bibcode:1985PNAS...82.3771H. doi:10.1073/pnas.82.11.3771. PMC 397869. PMID 2987944.
  7. ^ "Entrez Gene: ALDH1A1".
  8. ^ Sherva R, Rice JP, Neuman RJ, Rochberg N, Saccone NL, Bierut LJ (May 2009). "Associations and interactions between SNPs in the alcohol metabolizing genes and alcoholism phenotypes in European Americans". Alcoholism: Clinical and Experimental Research. 33 (5): 848–57. doi:10.1111/j.1530-0277.2009.00904.x. PMC 2892966. PMID 19298322.
  9. ^ Liu J, Zhou Z, Hodgkinson CA, Yuan Q, Shen PH, Mulligan CJ, et al. (February 2011). "Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations". Alcoholism: Clinical and Experimental Research. 35 (2): 304–16. doi:10.1111/j.1530-0277.2010.01346.x. PMC 3026908. PMID 21083667.
  10. ^ Jester JV, Moller-Pedersen T, Huang J, Sax CM, Kays WT, Cavangh HD, et al. (March 1999). "The cellular basis of corneal transparency: evidence for 'corneal crystallins'". Journal of Cell Science. 112. 112 (5): 613–22. doi:10.1242/jcs.112.5.613. PMID 9973596.
  11. ^ Muralikrishnan V, Hurley TD, Nephew KP (April 2020). "Targeting Aldehyde Dehydrogenases to Eliminate Cancer Stem Cells in Gynecologic Malignancies". Cancers. 12 (4): 961. doi:10.3390/cancers12040961. PMC 7225959. PMID 32295073.
[edit]

Further reading

[edit]

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