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Gene Review

PAX1  -  paired box 1

Homo sapiens

Synonyms: HUP48, HuP48, OFC2, Paired box protein Pax-1
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Disease relevance of PAX1

  • In one patient with spina bifida, a mutation in the PAX1 gene was detected changing the conserved amino acid Gln to His at position 42 in the paired domain of the protein [1].
  • Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins [2].

High impact information on PAX1

  • PAX-9 is a novel family member which is closely related in its paired domain to PAX-1 [3].
  • PAX-1 and PAX-7 map to chromosomal regions containing previously assigned disease loci [3].
  • Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency [4].
  • The murine paired box-containing gene Pax1 is required for normal development of the vertebral column, the sternum, and the scapula [4].
  • While the histological results are consistent with those previously published, gene expression analysis indicates that cells previously thought to be 'sclerotome' no longer express Pax1 mRNA, a sclerotome marker [5].

Biological context of PAX1


Anatomical context of PAX1

  • It has previously been shown that the SHH protein arising from the notochord (and floor plate) is necessary for the survival and further development of Pax1/Pax9-expressing sclerotomal cells [10].
  • We identified a novel mutation (CGC to T GC) at codon 31 of the Paired box 8 gene, an important transcription factor in the development of the thyroid gland [11].
  • Paired box protein 5 (Pax5) is essential for early B cell commitment as well as for B cell development, and continuous expression of Pax5 is required throughout the B cell lineage to maintain the functional identity of B cells [12].
  • Here, we present bead implantation and antisense inhibition experiments that show that Sonic hedgehog is both a sufficient and essential notochord signal molecule for myoD and pax1 activation in somites [13].
  • Ectoderm ablation and inhibition of BMP activity interfers the scapula-specific Pax1 expression and scapula blade formation [14].

Other interactions of PAX1


Analytical, diagnostic and therapeutic context of PAX1

  • To address both questions we have created a Pax1 null allele in mice by gene targeting [4].
  • Experiments involving transplantation of newly formed somites to ectopic sites along the anterior to posterior embryonic axis were performed to distinguish the contributions of axial signals and somite response pathways to the developmental regulation of pax1 and QmyoD [18].


  1. PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. Hol, F.A., Geurds, M.P., Chatkupt, S., Shugart, Y.Y., Balling, R., Schrander-Stumpel, C.T., Johnson, W.G., Hamel, B.C., Mariman, E.C. J. Med. Genet. (1996) [Pubmed]
  2. Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. Martha, A., Ferrell, R.E., Mintz-Hittner, H., Lyons, L.A., Saunders, G.F. Am. J. Hum. Genet. (1994) [Pubmed]
  3. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. Stapleton, P., Weith, A., Urbánek, P., Kozmik, Z., Busslinger, M. Nat. Genet. (1993) [Pubmed]
  4. Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency. Wilm, B., Dahl, E., Peters, H., Balling, R., Imai, K. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  5. Dorsoventral axis determination in the somite: a re-examination. Dockter, J., Ordahl, C.P. Development (2000) [Pubmed]
  6. Organic anion and cation transporters occur in pairs of similar and similarly expressed genes. Eraly, S.A., Hamilton, B.A., Nigam, S.K. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
  7. An analysis of PAX1 in the development of vertebral malformations. Giampietro, P.F., Raggio, C.L., Reynolds, C.E., Shukla, S.K., McPherson, E., Ghebranious, N., Jacobsen, F.S., Kumar, V., Faciszewski, T., Pauli, R.M., Rasmussen, K., Burmester, J.K., Zaleski, C., Merchant, S., David, D., Weber, J.L., Glurich, I., Blank, R.D. Clin. Genet. (2005) [Pubmed]
  8. Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family. Hol, F.A., Hamel, B.C., Geurds, M.P., Hansmann, I., Nabben, F.A., Daniëls, O., Mariman, E.C. Hum. Genet. (1995) [Pubmed]
  9. 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). Schnittger, S., Rao, V.V., Deutsch, U., Gruss, P., Balling, R., Hansmann, I. Genomics (1992) [Pubmed]
  10. Two domains in vertebral development: antagonistic regulation by SHH and BMP4 proteins. Watanabe, Y., Duprez, D., Monsoro-Burq, A.H., Vincent, C., Le Douarin, N.M. Development (1998) [Pubmed]
  11. Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31. Komatsu, M., Takahashi, T., Takahashi, I., Nakamura, M., Takahashi, I., Takada, G. J. Pediatr. (2001) [Pubmed]
  12. Pax5--a critical inhibitor of plasma cell fate. Nera, K.P., Lassila, O. Scand. J. Immunol. (2006) [Pubmed]
  13. Control of somite patterning by Sonic hedgehog and its downstream signal response genes. Borycki, A.G., Mendham, L., Emerson, C.P. Development (1998) [Pubmed]
  14. Regulation of scapula development. Huang, R., Christ, B., Patel, K. Anat. Embryol. (2006) [Pubmed]
  15. Mutations in PAX1 may be associated with Klippel-Feil syndrome. McGaughran, J.M., Oates, A., Donnai, D., Read, A.P., Tassabehji, M. Eur. J. Hum. Genet. (2003) [Pubmed]
  16. In vitro diagnosis of farmers' IgE-mediated allergy by Phadiatop and three new multiallergen RAST analyses. van Hage-Hamsten, M., Johansson, S.G. Allergy (1993) [Pubmed]
  17. A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia. Nishi, M., Sasahara, M., Shono, T., Saika, S., Yamamoto, Y., Ohkawa, K., Furuta, H., Nakao, T., Sasaki, H., Nanjo, K. Diabet. Med. (2005) [Pubmed]
  18. Distinct signal/response mechanisms regulate pax1 and QmyoD activation in sclerotomal and myotomal lineages of quail somites. Borycki, A.G., Strunk, K.E., Savary, R., Emerson, C.P. Dev. Biol. (1997) [Pubmed]
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