ALX1

ALX1
Identifiers
Aliases	ALX1 , CART1, FND3, HEL23, ALX homeobox 1
External IDs	OMIM: 601527; MGI: 104621; HomoloGene: 5075; GeneCards: ALX1; OMA:ALX1 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q21.31 Start 85,280,220 bp [1] End 85,301,784 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10 D1|10 53.56 cM Start 102,834,568 bp [2] End 102,866,076 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad left uterine tube minor salivary glands olfactory zone of nasal mucosa stromal cell of endometrium popliteal artery tibial arteries canal of the cervix human kidney corpus epididymis Top expressed in maxillary prominence cartilage of the septum spermatocyte medial nasal prominence lateral nasal prominence spermatid Smooth muscle tissue of renal pelvis embryo urethra abdominal wall 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ALX homeobox protein 1 is a protein that in humans is encoded by the ALX1 gene. ^{[5] [6] [7]}

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. ^[7]

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. ^[8]

In Darwin's finches, inhabiting the Galapagos islands, ALX1 has been linked to the diversity of beak shapes. ^[9]

Interactions

ALX1 has been shown to interact with IPO13. ^[10]

References

1. GRCh38: Ensembl release 89: ENSG00000180318 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036602 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: CART1 cartilage paired-class homeoprotein 1".
8. "Burmese - Burmese Head Defect". Universities Federation for Animal Welfare. Retrieved 7 June 2023.
9. 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. 518 (7539): 371–5. Bibcode:2015Natur.518..371L. doi:10.1038/nature14181. PMID   25686609. S2CID   4462253.
10. 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.

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 .