InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PAX3

Summary

InnateDB Protein

IDBP-82150.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PAX3

Protein Name

paired box 3

Synonyms

CDHS; HUP2; WS1; WS3;

Species

Homo sapiens

Ensembl Protein

ENSP00000338767

InnateDB Gene

IDBG-82144 (PAX3)

Protein Structure

UniProt Annotation

Function

Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. {ECO:0000269PubMed:16951170}.

Subcellular Localization

Nucleus.

Disease Associations

Waardenburg syndrome 1 (WS1) [MIM:193500]: 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. {ECO:0000269PubMed:10779847, ECO:0000269PubMed:12949970, ECO:0000269PubMed:1303193, ECO:0000269PubMed:1347148, ECO:0000269PubMed:1347149, ECO:0000269PubMed:7825605, ECO:0000269PubMed:7833953, ECO:0000269PubMed:7981674, ECO:0000269PubMed:8447316, ECO:0000269PubMed:8490648, ECO:0000269PubMed:8533800, ECO:0000269PubMed:8589691, ECO:0000269PubMed:8845842, ECO:0000269PubMed:9067759, ECO:0000269PubMed:9452070, ECO:0000269PubMed:9541113, ECO:0000269Ref.34}. Note=The disease is caused by mutations affecting the gene represented in this entry.Waardenburg syndrome 3 (WS3) [MIM:148820]: 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. {ECO:0000269PubMed:12949970, ECO:0000269PubMed:7726174, ECO:0000269Ref.35}. Note=The disease is caused by mutations affecting the gene represented in this entry.Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]: 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. {ECO:0000269PubMed:8664898}. Note=The disease is caused by mutations affecting the gene represented in this entry.Rhabdomyosarcoma 2 (RMS2) [MIM:268220]: 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. Note=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.Note=A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all malignancies in children.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.

Experimentally validated
Total	29 [view]
Protein-Protein	24 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	18 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0006915	apoptotic process
GO:0007605	sensory perception of sound
GO:0009887	organ morphogenesis
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter