ALX1

ALX1
Identifiers
Aliases	ALX1, CART1, FND3, HEL23, ALX homeobox 1
External IDs	OMIM: 601527 MGI: 104621 HomoloGene: 5075 GeneCards: ALX1
Gene location (Human) Chr. Chromosome 12 (human) Band 12q21.31 Start 85,280,220 bp End 85,301,784 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 D1|10 53.56 cM Start 102,834,568 bp End 102,866,076 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left uterine tube minor salivary glands stromal cell of endometrium popliteal artery canal of the cervix kidney corpus epididymis ligament Achilles tendon skin of abdomen Top expressed in maxillary prominence cartilage of the septum spermatocyte medial nasal prominence lateral nasal prominence spermatid urethra abdominal wall female urethra male urethra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding protein homodimerization activity transcription corepressor activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific protein binding protein heterodimerization activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component Golgi apparatus transcription regulator complex nucleoplasm nucleus nuclear body Biological process embryonic skeletal system morphogenesis roof of mouth development regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription by RNA polymerase II positive regulation of epithelial to mesenchymal transition transcription, DNA-templated multicellular organism development positive regulation of transcription, DNA-templated neural tube closure embryonic limb morphogenesis mesenchymal cell development cartilage condensation anterior/posterior pattern specification positive regulation of transcription by RNA polymerase II neural crest cell migration negative regulation of transcription, DNA-templated Sources:Amigo / QuickGO
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: 102.83 – 102.87 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

ALX homeobox protein 1 is a protein that in humans is encoded by the ALX1 gene.

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.

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

Interactions

ALX1 has been shown to interact with IPO13.

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. Bibcode:1993PNAS...90.8633Z. 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. S2CID 12341689.
• 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. 126 (2): 359–69. doi:10.1242/dev.126.2.359. 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. 18 (8): 1419–29. doi:10.1359/jbmr.2003.18.8.1419. PMID 12929931. S2CID 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 (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

External links

• Human ALX1 genome location and ALX1 gene details page in the UCSC Genome Browser.