ALX1 explained

ALX homeobox protein 1 is a protein that in humans is encoded by the ALX1 gene.^{[1] [2] [3]}

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.^[4]

In Darwin's finches, inhabiting the Galapagos islands, ALX1 has been linked to the diversity of beak shapes.^[5]

Interactions

ALX1 has been shown to interact with IPO13.^[6]

Further reading

• Zhao GQ, Zhou X, Eberspaecher H, Solursh M, de Crombrugghe B . Cartilage homeoprotein 1, a homeoprotein selectively expressed in chondrocytes . Proceedings of the National Academy of Sciences of the United States of America . 90 . 18 . 8633–7 . Sep 1993 . 7690966 . 47412 . 10.1073/pnas.90.18.8633 . 1993PNAS...90.8633Z . free .
• Zhao Q, Behringer RR, de Crombrugghe B . Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene . Nature Genetics . 13 . 3 . 275–83 . Jul 1996 . 8673125 . 10.1038/ng0796-275 . 12341689 .
• Cai RL . Human CART1, a paired-class homeodomain protein, activates transcription through palindromic binding sites . Biochemical and Biophysical Research Communications . 250 . 2 . 305–11 . Sep 1998 . 9753625 . 10.1006/bbrc.1998.9257 .
• Qu S, Tucker SC, Zhao Q, deCrombrugghe B, Wisdom R . Physical and genetic interactions between Alx4 and Cart1 . Development . 126 . 2 . 359–69 . Jan 1999 . 10.1242/dev.126.2.359 . 9847249 .
• Iioka T, Furukawa K, Yamaguchi A, Shindo H, Yamashita S, Tsukazaki T . 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 of Bone and Mineral Research . 18 . 8 . 1419–29 . Aug 2003 . 12929931 . 10.1359/jbmr.2003.18.8.1419 . 8125330 .
• 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 . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . Oct 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .

Notes and References

1. Gordon DF, Wagner J, Atkinson BL, Chiono M, Berry R, Sikela J, Gutierrez-Hartmann A . Human Cart-1: structural organization, chromosomal localization, and functional analysis of a cartilage-specific homeodomain cDNA . DNA and Cell Biology . 15 . 7 . 531–41 . Jul 1996 . 8756334 . 10.1089/dna.1996.15.531 .
2. Régnier CH, Tomasetto C, Moog-Lutz C, Chenard MP, Wendling C, Basset P, Rio MC . 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 . The Journal of Biological Chemistry . 270 . 43 . 25715–21 . Oct 1995 . 7592751 . 10.1074/jbc.270.43.25715 . free .
3. Web site: Entrez Gene: CART1 cartilage paired-class homeoprotein 1.
4. Web site: Burmese - Burmese Head Defect . Universities Federation for Animal Welfare . 7 June 2023.
5. 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 . Evolution of Darwin's finches and their beaks revealed by genome sequencing . Nature . 11 February 2015 . 10.1038/nature14181 . 25686609 . 518 . 7539 . 371–5. 2015Natur.518..371L . 4462253 .
6. Huda Zoghbi . 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 . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . Oct 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .