PAX1

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)
Chr.	Chromosome 20 (human)
End	21,718,481 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	147,235,215 bp
RNA expression pattern
	Top expressed in
	thymus; ; testicle; ; tibia; ; oral cavity; ; buccal mucosa cell; ; tonsil; ; amniotic fluid; ; olfactory zone of nasal mucosa; ; superior surface of tongue; ; bronchial epithelial cell;
	Top expressed in
	axial skeleton; ; sclerotome; ; pharyngeal pouch; ; thymus; ; thoracic vertebral column; ; middle ear; ; Eustachian tube; ; sternum; ; urethra; ; male urethra;
	More reference expression data
	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
	5075
	18503
	ENSG00000125813
	ENSMUSG00000037034
	P15863
	P09084
	NM_006192; NM_001257096
	NM_008780
	NP_001244025; NP_006183
	NP_032806
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000125813 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037034 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000125813 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid1358810-5] 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.

[entrez-6] "Entrez Gene: PAX1 paired box gene 1".

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