PAX3
entrez
5077
canonical
uniprot
P23760
canonical
ensembl
ENSG00000135903
resolver
ensp
ENSP00000258387
resolver
ensp
ENSP00000338767
resolver
ensp
ENSP00000342092
resolver
ensp
ENSP00000343052
resolver
ensp
ENSP00000375921
resolver
ensp
ENSP00000375922
resolver
ensp
ENSP00000386750
resolver
ensp
ENSP00000386817
resolver
genesymbol
PAX3
resolver
genesymbol_syn
HUP2
resolver
hgnc
HGNC:8617
resolver
uniprot
G5E9C1
resolver
uniprot
Q16448
resolver
uniprot
Q494Z3
resolver
uniprot
Q494Z4
resolver
uniprot
Q53T90
resolver
uniprot
Q6GSJ9
resolver
uniprot
Q86UQ2
resolver
uniprot
Q86UQ3
resolver
uniprot_entry
PAX3_HUMAN
resolver
uniprot_sec
G5E9C1
resolver
uniprot_sec
Q16448
resolver
uniprot_sec
Q494Z3
resolver
uniprot_sec
Q494Z4
resolver
uniprot_sec
Q53T90
resolver
uniprot_sec
Q6GSJ9
resolver
uniprot_sec
Q86UQ2
resolver
uniprot_sec
Q86UQ3
resolver
amino_acid_sequence
MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPKQVTTPDVEKKIEEYKRENPGMFSWEIRDKLLKDAVCDRNTVPSVSSISRILRSKFGKGEEEEADLERKEAEESEKKAKHSIDGILSERASAPQSDEGSDIDSEPDLPLKRKQRRSRTTFTAEQLEELERAFERTHYPDIYTREELAQRAKLTEARVQVWFSNRRARWRKQAGANQLMAFNHLIPGGFPPTAMPTLPTYQLSETSYQPTSIPQAVSDPSSTVHRPQPLPPSTVHQSTIPSNPDSSSAYCLPSTRHGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQVMGLLTNHGGVPHQPQTDYALSPLTGGLEPTTTVSASCSQRLDHMKSLDSLPTSQSYCPPTYSTTGYSMDPVTGYQYGQYGQSKPWTF
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:10779847, ECO:0000269|PubMed:12949970, ECO:0000269|PubMed:1303193, ECO:0000269|PubMed:1347148, ECO:0000269|PubMed:1347149, ECO:0000269|PubMed:16971891, ECO:0000269|PubMed:20478267, ECO:0000269|PubMed:21965087, ECO:0000269|PubMed:7825605, ECO:0000269|PubMed:7833953, ECO:0000269|PubMed:7981674, ECO:0000269|PubMed:8447316, ECO:0000269|PubMed:8490648, ECO:0000269|PubMed:8533800, ECO:0000269|PubMed:8589691, ECO:0000269|PubMed:8845842, ECO:0000269|PubMed:9067759, ECO:0000269|PubMed:9452070, ECO:0000269|PubMed:9541113, ECO:0000269|Ref.35}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:12949970, ECO:0000269|PubMed:7726174, ECO:0000269|PubMed:8447316, ECO:0000269|Ref.36}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:8664898}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:8275086}. 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. {ECO:0000269|PubMed:8275086}.; DISEASE: 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. {ECO:0000269|PubMed:15313887}.
uniprot
proteins
function
FUNCTION: Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087). {ECO:0000269|PubMed:16951170, ECO:0000269|PubMed:21965087}.
uniprot
proteins
mass_dalton
52968
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
10393185
uniprot
proteins
pubmed
10779847
uniprot
proteins
pubmed
12949970
uniprot
proteins
pubmed
1303193
uniprot
proteins
pubmed
1347148
uniprot
proteins
pubmed
1347149
uniprot
proteins
pubmed
14639621
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15313887
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16951170
uniprot
proteins
pubmed
16971891
uniprot
proteins
pubmed
19199574
uniprot
proteins
pubmed
20478267
uniprot
proteins
pubmed
21440083
uniprot
proteins
pubmed
21965087
uniprot
proteins
pubmed
2501086
uniprot
proteins
pubmed
7545913
uniprot
proteins
pubmed
7726174
uniprot
proteins
pubmed
7782066
uniprot
proteins
pubmed
7825605
uniprot
proteins
pubmed
7833953
uniprot
proteins
pubmed
7981674
uniprot
proteins
pubmed
8275086
uniprot
proteins
pubmed
8447316
uniprot
proteins
pubmed
8490648
uniprot
proteins
pubmed
8533800
uniprot
proteins
pubmed
8589691
uniprot
proteins
pubmed
8664898
uniprot
proteins
pubmed
8845842
uniprot
proteins
pubmed
8863157
uniprot
proteins
pubmed
9067759
uniprot
proteins
pubmed
9452070
uniprot
proteins
pubmed
9541113
uniprot
proteins
pubmed
9584079
uniprot
proteins
sequence_length
479
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21965087}.
uniprot
proteins