Entity Details

Primary name PAX9_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP55771
EntryNamePAX9_HUMAN
FullNamePaired box protein Pax-9
TaxID9606
Evidenceevidence at protein level
Length341
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesPAX9

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007492 endoderm development
GO:0042476 odontogenesis
GO:0042481 regulation of odontogenesis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048856 anatomical structure development
GO:0060325 face morphogenesis
GO:0071363 cellular response to growth factor stimulus
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001523 Paired domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR033204 Paired box protein PAX9FamilyFamily
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR043182 Paired DNA-binding domainDomainDomain
IPR043565 PAX familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
604625 OMIMTooth agenesis, selective, 3 (STHAG3)A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). The disease is caused by variants affecting the gene represented in this entry.