PAX1

PAX1
Identifiers
Aliases	PAX1, HUP48, OFC2, paired box 1
External IDs	OMIM: 167411; MGI: 97485; HomoloGene: 4514; GeneCards: PAX1; OMA:PAX1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) Band 20p11.22 Start 21,705,659 bp End 21,718,481 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 G2|2 72.63 cM Start 147,203,845 bp End 147,235,215 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thymus testicle tibia oral cavity buccal mucosa cell tonsil amniotic fluid olfactory zone of nasal mucosa superior surface of tongue bronchial epithelial cell Top expressed in axial skeleton sclerotome pharyngeal pouch thymus thoracic vertebral column middle ear Eustachian tube sternum urethra male urethra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific protein binding Cellular component nucleus Biological process somitogenesis multicellular organism development pattern specification process skeletal system development CD4-positive, alpha-beta T cell differentiation CD8-positive, alpha-beta T cell differentiation bone morphogenesis cell population proliferation regulation of transcription, DNA-templated transcription by RNA polymerase II parathyroid gland development sclerotome development positive regulation of transcription by RNA polymerase II transcription, DNA-templated thymus development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5075 18503 Ensembl ENSG00000125813 ENSMUSG00000037034 UniProt P15863 P09084 RefSeq (mRNA) NM_006192 NM_001257096 NM_008780 RefSeq (protein) NP_001244025 NP_006183 NP_032806 Location (UCSC) Chr 20: 21.71 – 21.72 Mb Chr 2: 147.2 – 147.24 Mb PubMed search
Wikidata
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Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene.

Function

This gene is a member of the paired box (PAX) family of transcription factors which are essential during fetal development. It is required for the development of the ventral vertebral column. Its expression is limited to the pharyngeal pouches and the cells that surround the developing vertebrae near the top where the head will be established to help give rise to the neck and the start of the formation of the shoulders and arm buds. Cancers, such as ovarian and cervical cancers, add a methyl (CH₃) group which silences, or disables, the gene which may be able to suppress the tumor by regulating when other cells divide and increase. A substitution or deletion of this gene in mice can produce variants of the mutant undulated which is characterized by segmentation abnormalities along the inner spine. Mutations in the human gene may contribute to the condition of Klippel–Feil syndrome, which is the failure of the vertebrae to segment near the top of the spine and possibly further down with symptoms including a short, immovable neck and a low hairline on the back of the head.

Interactions

PAX1 has been shown to interact with MEOX1 and MEOX2.

See also

• Pax genes

Further reading

• Bannykh SI, Emery SC, Gerber JK, et al. (2004). "Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review". Am. J. Med. Genet. A. 120 (2): 241–6. doi:10.1002/ajmg.a.20192. PMID 12833407. S2CID 1145497.
• Burri M, Tromvoukis Y, Bopp D, et al. (1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183–90. doi:10.1002/j.1460-2075.1989.tb03490.x. PMC 400932. PMID 2501086.
• Smith CA, Tuan RS (1994). "Human PAX gene expression and development of the vertebral column". Clin. Orthop. Relat. Res. (302): 241–50. PMID 7909508.
• Stapleton P, Weith A, Urbánek P, et al. (1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat. Genet. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748. S2CID 21338655.
• Hol FA, Geurds MP, Chatkupt S, et al. (1996). "PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida". J. Med. Genet. 33 (8): 655–60. doi:10.1136/jmg.33.8.655. PMC 1050699. PMID 8863157.
• Wilm B, Dahl E, Peters H, et al. (1998). "Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency". Proc. Natl. Acad. Sci. U.S.A. 95 (15): 8692–7. Bibcode:1998PNAS...95.8692W. doi:10.1073/pnas.95.15.8692. PMC 21138. PMID 9671740.
• Stamataki D, Kastrinaki M, Mankoo BS, et al. (2001). "Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors". FEBS Lett. 499 (3): 274–8. Bibcode:2001FEBSL.499..274S. doi:10.1016/S0014-5793(01)02556-X. PMID 11423130. S2CID 40668112.
• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi:10.1038/414865a. PMID 11780052.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Eraly SA, Hamilton BA, Nigam SK (2003). "Organic anion and cation transporters occur in pairs of similar and similarly expressed genes". Biochem. Biophys. Res. Commun. 300 (2): 333–42. doi:10.1016/S0006-291X(02)02853-X. PMID 12504088.
• McGaughran JM, Oates A, Donnai D, et al. (2004). "Mutations in PAX1 may be associated with Klippel-Feil syndrome". Eur. J. Hum. Genet. 11 (6): 468–74. doi:10.1038/sj.ejhg.5200987. PMID 12774041.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Giampietro PF, Raggio CL, Reynolds CE, et al. (2005). "An analysis of PAX1 in the development of vertebral malformations". Clin. Genet. 68 (5): 448–53. doi:10.1111/j.1399-0004.2005.00520.x. PMID 16207213. S2CID 9589914.

External links

• PAX1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.