Entity Details

Primary name PAX1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP15863
EntryNamePAX1_HUMAN
FullNamePaired box protein Pax-1
TaxID9606
Evidenceevidence at protein level
Length534
SequenceStatuscomplete
DateCreated1990-04-01
DateModified2021-06-02

Ontological Relatives

GenesPAX1

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:0001501 skeletal system development
GO:0001756 somitogenesis
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006366 transcription by RNA polymerase II
GO:0008283 cell population proliferation
GO:0043367 CD4-positive, alpha-beta T cell differentiation
GO:0043374 CD8-positive, alpha-beta T cell differentiation
GO:0048538 thymus development
GO:0048856 anatomical structure development
GO:0060017 parathyroid gland development
GO:0060349 bone morphogenesis
GO:0061056 sclerotome development
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
IPR033206 Paired box protein PAX1FamilyFamily
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR043182 Paired DNA-binding domainDomainDomain
IPR043565 PAX familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
615560 OMIMOtofaciocervical syndrome 2 (OTFCS2)A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
PAX1_HUMANMEOX1_HUMANBioGRID, HPRD, MINT11423130 details
PAX1_HUMANMEOX2_HUMANBioGRID, HPRD11423130 details