PAX1 (original) (raw)

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Protein-coding gene in humans

PAX1
Identifiers
Aliases PAX1, HUP48, OFC2, paired box 1
External IDs OMIM: 167411; MGI: 97485; HomoloGene: 4514; GeneCards: PAX1; OMA:PAX1 - orthologs
Gene location (Human)Chromosome 20 (human)Chr.Chromosome 20 (human)[1]Chromosome 20 (human)Genomic location for PAX1Genomic location for PAX1Band20p11.22Start21,705,659 bp[1]End21,718,481 bp[1]
Gene location (Mouse)Chromosome 2 (mouse)Chr.Chromosome 2 (mouse)[2]Chromosome 2 (mouse)Genomic location for PAX1Genomic location for PAX1Band2 G2|2 72.63 cMStart147,203,845 bp[2]End147,235,215 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inthymustesticletibiaoral cavitybuccal mucosa celltonsilamniotic fluidolfactory zone of nasal mucosasuperior surface of tonguebronchial epithelial cellTop expressed inaxial skeletonsclerotomepharyngeal pouchthymusthoracic vertebral columnmiddle earEustachian tubesternumurethramale urethraMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function DNA binding DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific protein binding Cellular component nucleus Biological process somitogenesis multicellular organism development pattern specification process skeletal system development CD4-positive, alpha-beta T cell differentiation CD8-positive, alpha-beta T cell differentiation bone morphogenesis cell population proliferation regulation of transcription, DNA-templated transcription by RNA polymerase II parathyroid gland development sclerotome development positive regulation of transcription by RNA polymerase II transcription, DNA-templated thymus development Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez507518503EnsemblENSG00000125813ENSMUSG00000037034UniProtP15863P09084RefSeq (mRNA)NM_006192NM_001257096NM_008780RefSeq (protein)NP_001244025NP_006183NP_032806Location (UCSC)Chr 20: 21.71 – 21.72 MbChr 2: 147.2 – 147.24 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene.[5][6]

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.[7][8][9][10]

PAX1 has been shown to interact with MEOX1[11] and MEOX2.[11]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000125813 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037034 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ "Entrez Gene: PAX1 paired box gene 1".
  7. ^ "Genes and Mapped Phenotypes".
  8. ^ 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. S2CID 12943200.
  9. ^ 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. doi:10.1242/dev.120.5.1109. PMID 8026324.
  10. ^ 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.
  11. ^ a b 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. Bibcode:2001FEBSL.499..274S. doi:10.1016/S0014-5793(01)02556-X. PMID 11423130. S2CID 40668112.

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