| Tag | Content |
|---|---|
| Uniprot ID | P23760; G5E9C1; Q16448; Q494Z3; Q494Z4; Q53T90; Q6GSJ9; Q86UQ2; Q86UQ3; |
| Entrez ID | 5077 |
| Genbank protein ID | EAW70796.1; AAP13873.1; AAB30168.1; AAB21476.1; AAI01303.1; AAH63547.1; AAI01302.1; BAF83967.1; EAW70794.1; AAI01300.1; AAY14900.1; AAT47737.1; AAB30167.1; CAA33145.1; AAA91849.1; EAW70789.1; AAA80573.1; AAI14364.1; AAA80574.1; EAW70791.1; AAI01301.1; AAP13872.1; |
| Genbank nucleotide ID | NM_000438.5; NM_181457.3; NM_181459.3; NM_181461.3; NM_013942.4; NM_181458.3; NM_001127366.2; NM_181460.3; |
| Ensembl protein ID | ENSP00000258387; ENSP00000342092; ENSP00000375922; ENSP00000386817; ENSP00000343052; ENSP00000338767; ENSP00000386750; ENSP00000375921; |
| Ensembl nucleotide ID | ENSG00000135903 |
| Gene name | Paired box protein Pax-3 |
| Gene symbol | PAX3 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 19142206 |
| Functional description | 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). |
| Sequence | MTTLAGAVPR MMRPGPGQNY PRSGFPLEVS TPLGQGRVNQ LGGVFINGRP LPNHIRHKIV 60 EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA IGGSKPKQVT TPDVEKKIEE 120 YKRENPGMFS WEIRDKLLKD AVCDRNTVPS VSSISRILRS KFGKGEEEEA DLERKEAEES 180 EKKAKHSIDG ILSERASAPQ SDEGSDIDSE PDLPLKRKQR RSRTTFTAEQ LEELERAFER 240 THYPDIYTRE ELAQRAKLTE ARVQVWFSNR RARWRKQAGA NQLMAFNHLI PGGFPPTAMP 300 TLPTYQLSET SYQPTSIPQA VSDPSSTVHR PQPLPPSTVH QSTIPSNPDS SSAYCLPSTR 360 HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVMGLLTNHG GVPHQPQTDY ALSPLTGGLE 420 PTTTVSASCS QRLDHMKSLD SLPTSQSYCP PTYSTTGYSM DPVTGYQYGQ YGQSKPWTF 479 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.