PAX1: Difference between revisions
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{{ | '''Paired box protein Pax-1''' is a [[protein]] that in humans is encoded by the ''PAX1'' [[gene]].<ref name="pmid1358810">{{cite journal | vauthors = Schnittger S, Rao VV, Deutsch U, Gruss P, Balling R, Hansmann I | title = 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) | journal = Genomics | volume = 14 | issue = 3 | pages = 740–4 |date=December 1992 | pmid = 1358810 | pmc = | doi =10.1016/S0888-7543(05)80177-6 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PAX1 paired box gene 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5075| accessdate = }}</ref> | ||
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== Function == | |||
This gene is a member of the paired box ([[Pax genes|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 (CH<sub>3</sub>) 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.<ref name="Genes and Mapped Phenotypes">{{cite web | title = Genes and Mapped Phenotypes | url = https://www.ncbi.nlm.nih.gov/gene/5075 }}</ref><ref name="pmid9786420">{{cite journal | vauthors = Hofmann C, Drossopoulou G, McMahon A, Balling R, Tickle C | title = Inhibitory action of BMPs on Pax1 expression and on shoulder girdle formation during limb development | journal = Dev. Dyn. | volume = 213 | issue = 2 | pages = 199–206 | year = 1998 | pmid = 9786420 | doi = 10.1002/(SICI)1097-0177(199810)213:2<199::AID-AJA5>3.0.CO;2-B }}</ref><ref name="pmid8026324">{{cite journal | vauthors = Wallin J, Wilting J, Koseki H, Fritsch R, Christ B, Balling R | title = The role of Pax-1 in axial skeleton development | journal = Development | volume = 120 | issue = 5 | pages = 1109–21 | year = 1994 | pmid = 8026324 | doi = }}</ref><ref name="pmid12774041">{{cite journal | vauthors = McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M | title = Mutations in PAX1 may be associated with Klippel-Feil syndrome | journal = Eur. J. Hum. Genet. | volume = 11 | issue = 6 | pages = 468–74 | year = 2003 | pmid = 12774041 | doi = 10.1038/sj.ejhg.5200987 }}</ref> | |||
== Interactions == | |||
{{ | PAX1 has been shown to [[Protein-protein interaction|interact]] with [[MEOX1]]<ref name="pmid11423130">{{cite journal | vauthors = Stamataki D, Kastrinaki M, Mankoo BS, Pachnis V, Karagogeos D | title = Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors | journal = FEBS Lett. | volume = 499 | issue = 3 | pages = 274–8 | year = 2001 | pmid = 11423130 | doi =10.1016/S0014-5793(01)02556-X }}</ref> and [[MEOX2]].<ref name=pmid11423130/> | ||
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==See also== | == See also == | ||
* [[Pax genes]] | * [[Pax genes]] | ||
==References== | == References == | ||
{{reflist | {{reflist}} | ||
==Further reading== | == Further reading == | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
*{{cite journal |vauthors=Bannykh SI, Emery SC, Gerber JK, etal |title=Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. |journal=Am. J. Med. Genet. A |volume=120 |issue= 2 |pages= 241–6 |year= 2004 |pmid= 12833407 |doi= 10.1002/ajmg.a.20192 }} | |||
*{{cite journal |vauthors=Burri M, Tromvoukis Y, Bopp D, etal |title=Conservation of the paired domain in metazoans and its structure in three isolated human genes |journal=EMBO J. |volume=8 |issue= 4 |pages= 1183–90 |year= 1989 |pmid= 2501086 |doi= | pmc=400932 }} | |||
*{{cite journal | *{{cite journal | vauthors=Smith CA, Tuan RS |title=Human PAX gene expression and development of the vertebral column |journal=Clin. Orthop. Relat. Res. |volume= |issue= 302 |pages= 241–50 |year= 1994 |pmid= 7909508 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Stapleton P, Weith A, Urbánek P, etal |title=Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9 |journal=Nat. Genet. |volume=3 |issue= 4 |pages= 292–8 |year= 1995 |pmid= 7981748 |doi= 10.1038/ng0493-292 }} | ||
*{{cite journal |vauthors=Hol FA, Geurds MP, Chatkupt S, etal |title=PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida |journal=J. Med. Genet. |volume=33 |issue= 8 |pages= 655–60 |year= 1996 |pmid= 8863157 |doi=10.1136/jmg.33.8.655 | pmc=1050699 }} | |||
*{{cite journal | | *{{cite journal |vauthors=Wilm B, Dahl E, Peters H, etal |title=Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 15 |pages= 8692–7 |year= 1998 |pmid= 9671740 |doi=10.1073/pnas.95.15.8692 | pmc=21138 }} | ||
*{{cite journal | *{{cite journal |vauthors=Stamataki D, Kastrinaki M, Mankoo BS, etal |title=Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors |journal=FEBS Lett. |volume=499 |issue= 3 |pages= 274–8 |year= 2001 |pmid= 11423130 |doi=10.1016/S0014-5793(01)02556-X }} | ||
*{{cite journal | *{{cite journal |vauthors=Deloukas P, Matthews LH, Ashurst J, etal |title=The DNA sequence and comparative analysis of human chromosome 20 |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }} | ||
*{{cite journal | *{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }} | ||
*{{cite journal | *{{cite journal | vauthors=Eraly SA, Hamilton BA, Nigam SK |title=Organic anion and cation transporters occur in pairs of similar and similarly expressed genes |journal=Biochem. Biophys. Res. Commun. |volume=300 |issue= 2 |pages= 333–42 |year= 2003 |pmid= 12504088 |doi=10.1016/S0006-291X(02)02853-X }} | ||
*{{cite journal | *{{cite journal |vauthors=McGaughran JM, Oates A, Donnai D, etal |title=Mutations in PAX1 may be associated with Klippel-Feil syndrome |journal=Eur. J. Hum. Genet. |volume=11 |issue= 6 |pages= 468–74 |year= 2004 |pmid= 12774041 |doi= 10.1038/sj.ejhg.5200987 }} | ||
*{{cite journal | *{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Giampietro PF, Raggio CL, Reynolds CE, etal |title=An analysis of PAX1 in the development of vertebral malformations |journal=Clin. Genet. |volume=68 |issue= 5 |pages= 448–53 |year= 2005 |pmid= 16207213 |doi= 10.1111/j.1399-0004.2005.00520.x }} | ||
*{{cite journal | |||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
== External links == | == External links == | ||
* {{MeshName|PAX1+protein,+human}} | * {{MeshName|PAX1+protein,+human}} | ||
{{Transcription factors|g3}} | |||
{{NLM content}} | {{NLM content}} | ||
{{ | {{Use dmy dates|date=April 2017}} | ||
[[Category:Transcription factors]] | [[Category:Transcription factors]] | ||
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{{gene-20-stub}} |
Latest revision as of 17:35, 7 September 2017
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
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UniProt |
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RefSeq (mRNA) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
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Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene.[1][2]
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.[3][4][5][6]
Interactions
PAX1 has been shown to interact with MEOX1[7] and MEOX2.[7]
See also
References
- ↑ Schnittger S, Rao VV, Deutsch U, Gruss P, Balling R, Hansmann I (December 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".
- ↑ "Genes and Mapped Phenotypes".
- ↑ Hofmann C, Drossopoulou G, McMahon A, Balling R, Tickle C (1998). "Inhibitory action of BMPs on Pax1 expression and on shoulder girdle formation during limb development". Dev. Dyn. 213 (2): 199–206. doi:10.1002/(SICI)1097-0177(199810)213:2<199::AID-AJA5>3.0.CO;2-B. PMID 9786420.
- ↑ Wallin J, Wilting J, Koseki H, Fritsch R, Christ B, Balling R (1994). "The role of Pax-1 in axial skeleton development". Development. 120 (5): 1109–21. PMID 8026324.
- ↑ McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M (2003). "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.
- ↑ 7.0 7.1 Stamataki D, Kastrinaki M, Mankoo BS, Pachnis V, Karagogeos D (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.
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.
- 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.
- 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.
- 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.
- 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.
External links
- PAX1+protein,+human at the US 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.
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