ALDH1A1: Difference between revisions
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== Function == | == Function == | ||
"The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet."<ref name=RefSeq2011>{{ cite book | |||
|author=RefSeq | |||
|title=ALDH1A1 aldehyde dehydrogenase 1 family member A1 [ Homo sapiens (human) ] | |||
|publisher=National Center for Biotechnology Information, U.S. National Library of Medicine | |||
|location=8600 Rockville Pike, Bethesda MD, 20894 USA | |||
|date=March 2011 | |||
|url=https://www.ncbi.nlm.nih.gov/gene/216 | |||
|accessdate=2017-02-04 }}</ref> | |||
ALDH1A1 also belongs to the group of [[cornea]]l [[crystallin]]s that help maintain the transparency of the cornea.<ref name="pmid9973596">{{cite journal |vauthors =Jester JV, Moller-Pedersen T, Huang J, Sax CM, Kays WT, Cavangh HD, Petroll WM, Piatigorsky J |title=The cellular basis of corneal transparency: evidence for 'corneal crystallins' |journal=J. Cell Sci. |volume=( Pt 5) |issue= |pages=613–22 |series=112 |date=March 1999 |pmid=9973596 |doi= |url= |issn=}}</ref> | ALDH1A1 also belongs to the group of [[cornea]]l [[crystallin]]s that help maintain the transparency of the cornea.<ref name="pmid9973596">{{cite journal |vauthors =Jester JV, Moller-Pedersen T, Huang J, Sax CM, Kays WT, Cavangh HD, Petroll WM, Piatigorsky J |title=The cellular basis of corneal transparency: evidence for 'corneal crystallins' |journal=J. Cell Sci. |volume=( Pt 5) |issue= |pages=613–22 |series=112 |date=March 1999 |pmid=9973596 |doi= |url= |issn=}}</ref> | ||
Revision as of 17:33, 20 November 2019
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Aldehyde dehydrogenase 1 family, member A1, also known as ALDH1A1 or retinaldehyde dehydrogenase 1 (RALDH1), is an enzyme that in humans is encoded by the ALDH1A1 gene.[1][2]
Function
"The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet."[3]
ALDH1A1 also belongs to the group of corneal crystallins that help maintain the transparency of the cornea.[4]
Transcriptions
"The promoter region of the gene contains an ATA box and a CCAAT box, which are located 32 and 74 bp upstream, respectively, from the transcription initiation site."[5]
References
- ↑ Pereira F, Rosenmann E, Nylen E, Kaufman M, Pinsky L, Wrogemann K (March 1991). "The 56 kDa androgen binding protein is an aldehyde dehydrogenase". Biochem. Biophys. Res. Commun. 175 (3): 831–8. doi:10.1016/0006-291X(91)91640-X. PMID 1709013.
- ↑ Hsu LC, Tani K, Fujiyoshi T, Kurachi K, Yoshida A (June 1985). "Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2". Proc. Natl. Acad. Sci. U.S.A. 82 (11): 3771–5. doi:10.1073/pnas.82.11.3771. PMC 397869. PMID 2987944.
- ↑ RefSeq (March 2011). ALDH1A1 aldehyde dehydrogenase 1 family member A1 [ Homo sapiens (human) ]. 8600 Rockville Pike, Bethesda MD, 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. Retrieved 2017-02-04.
- ↑ Jester JV, Moller-Pedersen T, Huang J, Sax CM, Kays WT, Cavangh HD, Petroll WM, Piatigorsky J (March 1999). "The cellular basis of corneal transparency: evidence for 'corneal crystallins'". J. Cell Sci. 112. ( Pt 5): 613–22. PMID 9973596.
- ↑ Lily C. Hsu, Wen-Chung Chang and Akira Yoshida (November 1989). "Genomic structure of the human cytosolic aldehyde dehydrogenase gene". Genomics. 5 (4): 857–865. doi:10.1016/0888-7543(89)90127-4. Retrieved 2017-11-17.
External links
- Human ALDH1A1 genome location and ALDH1A1 gene details page in the UCSC Genome Browser.
Further reading
- Walsh N, Dowling P, O'Donovan N, et al. (2008). "Aldehyde dehydrogenase 1A1 and gelsolin identified as novel invasion-modulating factors in conditioned medium of pancreatic cancer cells". Journal of proteomics. 71 (5): 561–71. doi:10.1016/j.jprot.2008.09.002. PMID 18848913.
- Barley K, Dracheva S, Byne W (2009). "Subcortical oligodendrocyte- and astrocyte-associated gene expression in subjects with schizophrenia, major depression and bipolar disorder". Schizophr. Res. 112 (1–3): 54–64. doi:10.1016/j.schres.2009.04.019. PMID 19447584.
- Ekhart C, Doodeman VD, Rodenhuis S, et al. (2008). "Influence of polymorphisms of drug metabolizing enzymes (CYP2B6, CYP2C9, CYP2C19, CYP3A4, CYP3A5, GSTA1, GSTP1, ALDH1A1 and ALDH3A1) on the pharmacokinetics of cyclophosphamide and 4-hydroxycyclophosphamide". Pharmacogenet. Genomics. 18 (6): 515–23. doi:10.1097/FPC.0b013e3282fc9766. PMID 18496131.
- Rodriguez FJ, Giannini C, Asmann YW, et al. (2008). "Gene expression profiling of NF-1-associated and sporadic pilocytic astrocytoma identifies aldehyde dehydrogenase 1 family member L1 (ALDH1L1) as an underexpressed candidate biomarker in aggressive subtypes". J. Neuropathol. Exp. Neurol. 67 (12): 1194–204. doi:10.1097/NEN.0b013e31818fbe1e. PMC 2730602. PMID 19018242.
- Carpentino JE, Hynes MJ, Appelman HD, et al. (2009). "Aldehyde dehydrogenase-expressing colon stem cells contribute to tumorigenesis in the transition from colitis to cancer". Cancer Res. 69 (20): 8208–15. doi:10.1158/0008-5472.CAN-09-1132. PMC 2776663. PMID 19808966.
- Ma S, Chan KW, Lee TK, et al. (2008). "Aldehyde dehydrogenase discriminates the CD133 liver cancer stem cell populations". Mol. Cancer Res. 6 (7): 1146–53. doi:10.1158/1541-7786.MCR-08-0035. PMID 18644979.
- Xiao T, Shoeb M, Siddiqui MS, et al. (2009). "Molecular cloning and oxidative modification of human lens ALDH1A1: implication in impaired detoxification of lipid aldehydes". J. Toxicol. Environ. Health Part A. 72 (9): 577–84. doi:10.1080/15287390802706371. PMID 19296407.
- 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.
- Chen YC, Chen YW, Hsu HS, et al. (2009). "Aldehyde dehydrogenase 1 is a putative marker for cancer stem cells in head and neck squamous cancer". Biochem. Biophys. Res. Commun. 385 (3): 307–13. doi:10.1016/j.bbrc.2009.05.048. PMID 19450560.
- Tabakoff B, Saba L, Printz M, et al. (2009). "Genetical genomic determinants of alcohol consumption in rats and humans". BMC Biol. 7: 70. doi:10.1186/1741-7007-7-70. PMC 2777866. PMID 19874574.
- Morimoto K, Kim SJ, Tanei T, et al. (2009). "Stem cell marker aldehyde dehydrogenase 1-positive breast cancers are characterized by negative estrogen receptor, positive human epidermal growth factor receptor type 2, and high Ki67 expression". Cancer Sci. 100 (6): 1062–8. doi:10.1111/j.1349-7006.2009.01151.x. PMID 19385968.
- Ekhart C, Rodenhuis S, Smits PH, et al. (2008). "Relations between polymorphisms in drug-metabolising enzymes and toxicity of chemotherapy with cyclophosphamide, thiotepa and carboplatin". Pharmacogenet. Genomics. 18 (11): 1009–15. doi:10.1097/FPC.0b013e328313aaa4. PMID 18854779.
- 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.
- Low SK, Kiyotani K, Mushiroda T, et al. (2009). "Association study of genetic polymorphism in ABCC4 with cyclophosphamide-induced adverse drug reactions in breast cancer patients". J. Hum. Genet. 54 (10): 564–71. doi:10.1038/jhg.2009.79. PMID 19696793.
- Moore SM, Liang T, Graves TJ, et al. (2009). "Identification of a novel cytosolic aldehyde dehydrogenase allele, ALDH1A1*4". Hum. Genomics. 3 (4): 304–7. doi:10.1186/1479-7364-3-4-304. PMC 2885287. PMID 19706361.
- Chang B, Liu G, Xue F, et al. (2009). "ALDH1 expression correlates with favorable prognosis in ovarian cancers". Mod. Pathol. 22 (6): 817–23. doi:10.1038/modpathol.2009.35. PMC 2692456. PMID 19329942.
- Lind PA, Eriksson CJ, Wilhelmsen KC (2008). "The role of aldehyde dehydrogenase-1 (ALDH1A1) polymorphisms in harmful alcohol consumption in a Finnish population". Hum. Genomics. 3 (1): 24–35. doi:10.1186/1479-7364-3-1-24. PMID 19129088.
- Moreb JS, Baker HV, Chang LJ, et al. (2008). "ALDH isozymes downregulation affects cell growth, cell motility and gene expression in lung cancer cells". Mol. Cancer. 7 (1): 87. doi:10.1186/1476-4598-7-87. PMC 2605459. PMID 19025616.
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