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{{Infobox gene}}
{{PBB_Controls
'''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>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
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>
  | image = 
| image_source = 
| PDB =
| Name = Paired box gene 1
| HGNCid = 8615
| Symbol = PAX1
| AltSymbols =; HUP48
| OMIM = 167411
| ECnumber = 
| Homologene = 4514
| MGIid = 97485
| GeneAtlas_image1 = PBB_GE_PAX1_214401_at_tn.png
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}  
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0001756 |text = somitogenesis}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006366 |text = transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0007389 |text = pattern specification process}} {{GNF_GO|id=GO:0043367 |text = CD4-positive, alpha beta T cell differentiation}} {{GNF_GO|id=GO:0043374 |text = CD8-positive, alpha-beta T cell differentiation}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5075
    | Hs_Ensembl = ENSG00000125813
    | Hs_RefseqProtein = NP_006183
    | Hs_RefseqmRNA = NM_006192
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 20
    | Hs_GenLoc_start = 21634364
    | Hs_GenLoc_end = 21644620
    | Hs_Uniprot = P15863
    | Mm_EntrezGene = 18503
    | Mm_Ensembl = ENSMUSG00000037034
    | Mm_RefseqmRNA = NM_008780
    | Mm_RefseqProtein = NP_032806
    | Mm_GenLoc_db =
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 147056501
    | Mm_GenLoc_end = 147066490
    | Mm_Uniprot = Q3UZ60
  }}
}}
'''Paired box gene 1''', also known as '''PAX1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PAX1 paired box gene 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5075| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Interactions ==
{{PBB_Summary
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/>
| section_title =  
| summary_text =  
}}


==See also==
== See also ==
* [[Pax genes]]
* [[Pax genes]]


==References==
== References ==
{{reflist|2}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{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 }}
| citations =
*{{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 | author=Bannykh SI, Emery SC, Gerber JK, ''et al.'' |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=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 | author=Schnittger S, Rao VV, Deutsch U, ''et al.'' |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 |year= 1992 |pmid= 1358810 |doi=  }}
*{{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  | author=Burri M, Tromvoukis Y, Bopp D, ''et al.'' |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=  }}
*{{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  | author=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   |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 | author=Stapleton P, Weith A, Urbánek P, ''et al.'' |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=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 | author=Hol FA, Geurds MP, Chatkupt S, ''et al.'' |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=  }}
*{{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 | author=Wilm B, Dahl E, Peters H, ''et al.'' |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=  }}
*{{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 | author=Stamataki D, Kastrinaki M, Mankoo BS, ''et al.'' |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=  }}
*{{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 | author=Deloukas P, Matthews LH, Ashurst J, ''et al.'' |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   |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 | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{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  | author=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=  }}
*{{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 | author=McGaughran JM, Oates A, Donnai D, ''et al.'' |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 | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
*{{cite journal | author=Giampietro PF, Raggio CL, Reynolds CE, ''et al.'' |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 }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|PAX1+protein,+human}}
* {{MeshName|PAX1+protein,+human}}
{{Transcription factors|g3}}


{{NLM content}}
{{NLM content}}
{{protein-stub}}
{{Use dmy dates|date=April 2017}}
{{Transcription factors}}
 
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}
 
 
{{gene-20-stub}}

Latest revision as of 17:35, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  1. ↑ 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.
  2. ↑ "Entrez Gene: PAX1 paired box gene 1".
  3. ↑ "Genes and Mapped Phenotypes".
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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. ↑ 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

External links

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


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