ALX1
{{Short description|Protein-coding gene in humans}}
{{Infobox_gene}}
ALX homeobox protein 1 is a protein that in humans is encoded by the ALX1 gene.{{cite journal | vauthors = Gordon DF, Wagner J, Atkinson BL, Chiono M, Berry R, Sikela J, Gutierrez-Hartmann A | title = Human Cart-1: structural organization, chromosomal localization, and functional analysis of a cartilage-specific homeodomain cDNA | journal = DNA and Cell Biology | volume = 15 | issue = 7 | pages = 531–41 | date = Jul 1996 | pmid = 8756334 | doi = 10.1089/dna.1996.15.531 }}{{cite journal | vauthors = Régnier CH, Tomasetto C, Moog-Lutz C, Chenard MP, Wendling C, Basset P, Rio MC | title = Presence of a new conserved domain in CART1, a novel member of the tumor necrosis factor receptor-associated protein family, which is expressed in breast carcinoma | journal = The Journal of Biological Chemistry | volume = 270 | issue = 43 | pages = 25715–21 | date = Oct 1995 | pmid = 7592751 | doi = 10.1074/jbc.270.43.25715 | doi-access = free }}{{cite web | title = Entrez Gene: CART1 cartilage paired-class homeoprotein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8092}}
Function
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly.
In Burmese cats, especially the lineage known as Contemporary Burmese, a deletion of four aminoacids in ALX1 is common. When heterozygous, the mutation causes brachycephaly; when homozygous it causes a fatal head malformation known as Burmese head defect.{{cite web |title=Burmese - Burmese Head Defect |url=https://www.ufaw.org.uk/cats/burmese---burmese-head-defect |publisher=Universities Federation for Animal Welfare |access-date=7 June 2023}}
In Darwin's finches, inhabiting the Galapagos islands, ALX1 has been linked to the diversity of beak shapes.{{cite journal| vauthors = Lamichhaney S, Berglund J, Almén MS, Maqbool K, Grabherr M, Martinez-Barrio A, Promerová M, Rubin CJ, Wang CZamani N, Grant BR, Webster MT, Andersson L | title = Evolution of Darwin's finches and their beaks revealed by genome sequencing | journal = Nature | date = 11 February 2015 | doi = 10.1038/nature14181 | pmid=25686609 | volume=518 | issue = 7539 | pages=371–5| bibcode = 2015Natur.518..371L | s2cid = 4462253 }}
Interactions
ALX1 has been shown to interact with IPO13.{{cite journal|author-link30=Huda Zoghbi | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = Oct 2005 | pmid = 16189514 | doi = 10.1038/nature04209 | bibcode = 2005Natur.437.1173R | s2cid = 4427026 }}
References
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Further reading
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- {{cite journal | vauthors = Zhao GQ, Zhou X, Eberspaecher H, Solursh M, de Crombrugghe B | title = Cartilage homeoprotein 1, a homeoprotein selectively expressed in chondrocytes | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 90 | issue = 18 | pages = 8633–7 | date = Sep 1993 | pmid = 7690966 | pmc = 47412 | doi = 10.1073/pnas.90.18.8633 | bibcode = 1993PNAS...90.8633Z | doi-access = free }}
- {{cite journal | vauthors = Zhao Q, Behringer RR, de Crombrugghe B | title = Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene | journal = Nature Genetics | volume = 13 | issue = 3 | pages = 275–83 | date = Jul 1996 | pmid = 8673125 | doi = 10.1038/ng0796-275 | s2cid = 12341689 }}
- {{cite journal | vauthors = Cai RL | title = Human CART1, a paired-class homeodomain protein, activates transcription through palindromic binding sites | journal = Biochemical and Biophysical Research Communications | volume = 250 | issue = 2 | pages = 305–11 | date = Sep 1998 | pmid = 9753625 | doi = 10.1006/bbrc.1998.9257 }}
- {{cite journal | vauthors = Qu S, Tucker SC, Zhao Q, deCrombrugghe B, Wisdom R | title = Physical and genetic interactions between Alx4 and Cart1 | journal = Development | volume = 126 | issue = 2 | pages = 359–69 | date = Jan 1999 | doi = 10.1242/dev.126.2.359 | pmid = 9847249 }}
- {{cite journal | vauthors = Iioka T, Furukawa K, Yamaguchi A, Shindo H, Yamashita S, Tsukazaki T | title = P300/CBP acts as a coactivator to cartilage homeoprotein-1 (Cart1), paired-like homeoprotein, through acetylation of the conserved lysine residue adjacent to the homeodomain | journal = Journal of Bone and Mineral Research | volume = 18 | issue = 8 | pages = 1419–29 | date = Aug 2003 | pmid = 12929931 | doi = 10.1359/jbmr.2003.18.8.1419 | s2cid = 8125330 }}
- {{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = Oct 2005 | pmid = 16189514 | doi = 10.1038/nature04209 | bibcode = 2005Natur.437.1173R | s2cid = 4427026 }}
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External links
- {{UCSC gene info|ALX1}}
{{gene-12-stub}}