ALDH1A1: Difference between revisions

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{{AE}} Henry A. Hoff
{{Infobox_gene}}
{{Infobox_gene}}


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== Function ==
== Function ==


This protein belongs to the [[aldehyde dehydrogenase]]s family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of [[alcohol metabolism]]. Two major liver isoforms of this enzyme, [[cytosol]]ic and [[mitochondria]]l, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. 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 (drug)|alcohol]] intoxication among East Asians than among Caucasians could be related to the absence of the mitochondrial isozyme. This gene encodes the main cytosolic isoform, which has a lower affinity for [[aldehyde]]s than the mitochondrial enzyme.<ref name="entrez">{{cite web |title=Entrez Gene: ALDH1A1 |url=https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=216 |accessdate=}}</ref>
"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>
== 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."<ref name=Hsu>{{ cite journal
|author=Lily C. Hsu, Wen-Chung Chang and Akira Yoshida
|title=Genomic structure of the human cytosolic aldehyde dehydrogenase gene
|journal=Genomics
|date=November 1989
|volume=5
|issue=4
|pages=857-865
|url=http://www.sciencedirect.com/science/article/pii/0888754389901274
|arxiv=
|bibcode=
|doi=10.1016/0888-7543(89)90127-4
|pmid=
|accessdate=2017-11-17 }}</ref>


== References ==
== References ==

Latest revision as of 17:34, 20 November 2019

Associate Editor(s)-in-Chief: Henry A. Hoff

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

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

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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

Further reading

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



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