PAX1

Paired box gene 1
Identifiers
Symbol(s)	PAX1; HUP48
External IDs	OMIM: 167411 MGI: 97485 Homologene: 4514
Gene ontology Molecular Function: • DNA binding Cellular Component: • nucleus Biological Process: • skeletal development • somitogenesis • transcription • regulation of transcription, DNA-dependent • transcription from RNA polymerase II promoter • pattern specification process • CD4-positive, alpha beta T cell differentiation • CD8-positive, alpha-beta T cell differentiation
RNA expression pattern
250px More reference expression data
Orthologs
	Human	Mouse
Entrez	5075	18503
Ensembl	ENSG00000125813	ENSMUSG00000037034
Uniprot	P15863	Q3UZ60
Refseq	NM_006192 (mRNA) NP_006183 (protein)	NM_008780 (mRNA) NP_032806 (protein)
Location	Chr 20: 21.63 - 21.64 Mb	Chr 2: 147.06 - 147.07 Mb
Pubmed search	[1]	[2]

Paired box gene 1, also known as PAX1, is a human gene.

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.
• Schnittger S, Rao VV, Deutsch U, et al. (1992). "Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH).". Genomics 14 (3): 740-4. PMID 1358810.
• 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. 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.
• 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. 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. 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. PMID 11423130.
• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20.". Nature 414 (6866): 865-71. 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. doi:10.1073/pnas.242603899. 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. 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. 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.

External links

• MeSH PAX1+protein,+human

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