Entity Details

Primary name PAX3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP23760
EntryNamePAX3_HUMAN
FullNamePaired box protein Pax-3
TaxID9606
Evidenceevidence at protein level
Length479
SequenceStatuscomplete
DateCreated1991-11-01
DateModified2021-06-02

Ontological Relatives

GenesPAX3

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:0003700 DNA-binding transcription factor activity
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006915 apoptotic process
GO:0007399 nervous system development
GO:0007517 muscle organ development
GO:0007605 sensory perception of sound
GO:0009887 animal organ morphogenesis
GO:0043565 sequence-specific DNA binding
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048856 anatomical structure development
GO:0071837 HMG box domain binding
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR001523 Paired domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR022106 Paired box protein 7, C-terminalDomainDomain
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR043182 Paired DNA-binding domainDomainDomain
IPR043565 PAX familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
193500 OMIMWaardenburg syndrome 1 (WS1)WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients. The disease is caused by variants affecting the gene represented in this entry.
122880 OMIMCraniofacial-deafness-hand syndrome (CDHS)Thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness. The disease is caused by variants affecting the gene represented in this entry.
148820 OMIMWaardenburg syndrome 3 (WS3)WS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies. The disease is caused by variants affecting the gene represented in this entry.
268220 OMIMRhabdomyosarcoma 2 (RMS2)A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional activator.