| Tag | Content |
|---|---|
| Uniprot ID | P24610; Q3UFQ9; Q8BRE7; Q9CXI6; |
| Entrez ID | 18505 |
| Genbank protein ID | AAB20359.1; BAB29280.1; BAC32185.1; CAA42008.1; BAE28501.1; AAB20360.1; |
| Genbank nucleotide ID | NM_001159520.1; NM_008781.4; |
| Ensembl protein ID | ENSMUSP00000084320 |
| Ensembl nucleotide ID | ENSMUSG00000004872 |
| Gene name | Paired box protein Pax-3 |
| Gene symbol | Pax3 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E14.5 |
| Data sources | Manually collected |
| Reference | 18483623; 25800090; |
| 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 (By similarity). |
| 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 QSTIPSNADS SSAYCLPSTR 360 HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVMGLLTNHG GVPHQPQTDY ALSPLTGGLE 420 PTTTVSASCS QRLEHMKNVD SLPTSQPYCP PTYSTAGYSM 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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | PAX3 | 540951 | F1MTX0 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | PAX3 | A0A452FR15 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | PAX3 | 5077 | P23760 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Pax3 | 18505 | P24610 | CPO | E14.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | PAX3 | H2QJH9 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | PAX3 | I3LAG7 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Pax3 | 114502 | F1LMV3 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | pax3a | F1R7Y4 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IDA |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IGI |
| GO:0003682 | chromatin binding | IDA |
| GO:0003700 | DNA-binding transcription factor activity | TAS |
| GO:0005515 | protein binding | IPI |
| GO:0043565 | sequence-specific DNA binding | IDA |
| GO:0043565 | sequence-specific DNA binding | ISO |
| GO:0071837 | HMG box domain binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IGI |
| GO:0001755 | neural crest cell migration | IMP |
| GO:0001843 | neural tube closure | IMP |
| GO:0007507 | heart development | IMP |
| GO:0007517 | muscle organ development | IMP |
| GO:0008283 | cell population proliferation | IMP |
| GO:0008284 | positive regulation of cell population proliferation | IMP |
| GO:0014807 | regulation of somitogenesis | IGI |
| GO:0014807 | regulation of somitogenesis | IMP |
| GO:0016477 | cell migration | IMP |
| GO:0021527 | spinal cord association neuron differentiation | IGI |
| GO:0021915 | neural tube development | IGI |
| GO:0035914 | skeletal muscle cell differentiation | NAS |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0048066 | developmental pigmentation | IMP |
| GO:0048663 | neuron fate commitment | IGI |
| GO:0055007 | cardiac muscle cell differentiation | NAS |
| GO:0060538 | skeletal muscle organ development | IMP |
| GO:0060594 | mammary gland specification | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | IDA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005667 | transcription factor complex | TAS |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-3214847 | HATs acetylate histones | IEA |
| R-MMU-3247509 | Chromatin modifying enzymes | IEA |
| R-MMU-4839726 | Chromatin organization | IEA |