ALX1

ALX homeobox 1
Identifiers
Symbols	ALX1 ; CART1; FND3; HEL23
External IDs	OMIM: 601527 MGI: 104621 HomoloGene: 5075 GeneCards: ALX1 Gene
Gene ontology Molecular function • RNA polymerase II regulatory region sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding • transcription factor activity, sequence-specific DNA binding • transcription corepressor activity • protein binding • protein homodimerization activity • protein heterodimerization activity Cellular component • nucleus • nucleoplasm • transcription factor complex • Golgi apparatus Biological process • negative regulation of transcription from RNA polymerase II promoter • cartilage condensation • neural tube closure • transcription from RNA polymerase II promoter • multicellular organismal development • anterior/posterior pattern specification • positive regulation of epithelial to mesenchymal transition • mesenchymal cell development • embryonic limb morphogenesis • positive regulation of transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • embryonic skeletal system morphogenesis • palate development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8092	216285
Ensembl	ENSG00000180318	ENSMUSG00000036602
UniProt	Q15699	Q8C8B0
RefSeq (mRNA)	NM_006982	NM_172553
RefSeq (protein)	NP_008913	NP_766141
Location (UCSC)	Chr 12: 85.28 – 85.3 Mb	Chr 10: 103.01 – 103.03 Mb
PubMed search

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.^[3]

In Darwin's finches, inhabiting the Galapagos islands, ALX1 has been linked to the diversity of beak shapes.^[4]

Interactions

ALX1 has been shown to interact with IPO13.^[5]

References

1. Gordon DF, Wagner J, Atkinson BL, Chiono M, Berry R, Sikela J, Gutierrez-Hartmann A (Jul 1996). "Human Cart-1: structural organization, chromosomal localization, and functional analysis of a cartilage-specific homeodomain cDNA". DNA and Cell Biology 15 (7): 531–41. doi:10.1089/dna.1996.15.531. PMID 8756334.
2. Régnier CH, Tomasetto C, Moog-Lutz C, Chenard MP, Wendling C, Basset P, Rio MC (Oct 1995). "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. doi:10.1074/jbc.270.43.25715. PMID 7592751.
3. "Entrez Gene: CART1 cartilage paired-class homeoprotein 1".
4. 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 (11 February 2015). "Evolution of Darwin’s finches and their beaks revealed by genome sequencing". Nature. doi:10.1038/nature14181.
5. 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 (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.

Further reading

• Zhao GQ, Zhou X, Eberspaecher H, Solursh M, de Crombrugghe B (Sep 1993). "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. doi:10.1073/pnas.90.18.8633. PMC 47412. PMID 7690966.
• Zhao Q, Behringer RR, de Crombrugghe B (Jul 1996). "Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene". Nature Genetics 13 (3): 275–83. doi:10.1038/ng0796-275. PMID 8673125.
• Cai RL (Sep 1998). "Human CART1, a paired-class homeodomain protein, activates transcription through palindromic binding sites". Biochemical and Biophysical Research Communications 250 (2): 305–11. doi:10.1006/bbrc.1998.9257. PMID 9753625.
• Qu S, Tucker SC, Zhao Q, deCrombrugghe B, Wisdom R (Jan 1999). "Physical and genetic interactions between Alx4 and Cart1". Development (Cambridge, England) 126 (2): 359–69. PMID 9847249.
• Iioka T, Furukawa K, Yamaguchi A, Shindo H, Yamashita S, Tsukazaki T (Aug 2003). "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 : The Official Journal of the American Society for Bone and Mineral Research 18 (8): 1419–29. doi:10.1359/jbmr.2003.18.8.1419. PMID 12929931. Check date values in: |year= / |date= mismatch (help)
• 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 (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.