PAX1

PAX1
Identifiers
Aliases	PAX1, HUP48, OFC2, paired box 1
External IDs	OMIM: 167411 MGI: 97485 HomoloGene: 4514 GeneCards: PAX1
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p11.22 Start 21,705,659 bp[1] End 21,718,481 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 G2|2 72.63 cM Start 147,203,845 bp[2] End 147,235,215 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thymus tibia oral cavity thymus amniotic fluid superior surface of tongue bronchial epithelial cell body of tongue thigh gastrocnemius muscle Top expressed in axial skeleton sclerotome pharyngeal pouch thymus middle ear Eustachian tube sternum urethra male urethra intervertebral disc More reference expression data BioGPS More reference expression data
Gene ontology Molecular 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
Orthologs Species Human Mouse Entrez 5075 18503 Ensembl ENSG00000125813 ENSMUSG00000037034 UniProt P15863 P09084 RefSeq (mRNA) NM_006192 NM_001257096 NM_008780 RefSeq (protein) NP_001244025 NP_006183 NP_032806 Location (UCSC) Chr 20: 21.71 – 21.72 Mb Chr 2: 147.2 – 147.24 Mb PubMed search [3] [4]
Wikidata
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Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene.^[5][6]

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.^{[7][8][9][10]}

Interactions

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

See also

• Pax genes

References

Further reading

External links

• PAX1+protein,+human at the U.S. 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.

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it.

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