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From Wikipedia, the free encyclopedia
| Paired box 1 | ||||||||
|---|---|---|---|---|---|---|---|---|
| Identifiers | ||||||||
| Symbols | PAX1; HUP48 | |||||||
| External IDs | OMIM: 167411 MGI: 97485 HomoloGene: 4514 GeneCards: PAX1 Gene | |||||||
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| RNA expression pattern | ||||||||
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| More reference expression data | ||||||||
| Orthologs | ||||||||
| Species | Human | Mouse | ||||||
| Entrez | 5075 | 18503 | ||||||
| Ensembl | ENSG00000125813 | ENSMUSG00000037034 | ||||||
| UniProt | P15863 | Q3UZ60 | ||||||
| RefSeq (mRNA) | NM_006192 | NM_008780.2 | ||||||
| RefSeq (protein) | NP_006183 | NP_032806.2 | ||||||
| Location (UCSC) | Chr 20: 21.69 – 21.7 Mb |
Chr 2: 147.19 – 147.22 Mb |
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| PubMed search | [1] | [2] |
Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene.[1][2]
Contents |
[edit] Interactions
PAX1 has been shown to interact with MEOX1[3] and MEOX2.[3]
[edit] See also
[edit] References
- ^ Schnittger S, Rao VV, Deutsch U, Gruss P, Balling R, Hansmann I (Dec 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. doi:10.1016/S0888-7543(05)80177-6. PMID 1358810.
- ^ "Entrez Gene: PAX1 paired box gene 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5075.
- ^ a b Stamataki, D; Kastrinaki M, Mankoo B S, Pachnis V, Karagogeos D (Jun. 2001). "Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors". FEBS Lett. (Netherlands) 499 (3): 274–8. doi:10.1016/S0014-5793(01)02556-X. ISSN 0014-5793. PMID 11423130.
[edit] 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.
- 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. PMC 400932. PMID 2501086. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=400932.
- 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. doi:10.1136/jmg.33.8.655. PMC 1050699. PMID 8863157. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1050699.
- 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. doi:10.1073/pnas.95.15.8692. PMC 21138. PMID 9671740. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=21138.
- 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. doi:10.1016/S0014-5793(01)02556-X. 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- 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.
[edit] External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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