| Tag | Content |
|---|---|
| Uniprot ID | P70314; O54742; P70427; |
| Entrez ID | 18740 |
| Genbank protein ID | AAB16860.1; AAC52716.1; AAC53059.1; AAH12696.1; |
| Genbank nucleotide ID | XM_006517157.3; XM_006517158.3; NM_011097.2; |
| Ensembl protein ID | ENSMUSP00000021968 |
| Ensembl nucleotide ID | ENSMUSG00000021506 |
| Gene name | Pituitary homeobox 1 |
| Gene symbol | Pitx1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E12.5, E13.5, E14.5, E15.5 |
| Data sources | Manually collected |
| Reference | 10101115; 10049363; |
| Functional description | Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb. Can independently activate and synergize with PIT-1 on pituitary-specific target gene promoters, thus may subserve functions in generating both precursor and specific cell phenotypes in the anterior pituitary gland and in several other organs. Can activate pituitary transcription of the proopiomelanocortin gene. |
| Sequence | MDAFKGGMSL ERLPEGLRPP PPPPHDMGPS FHLARAADPR EPLENSASES SDADLPDKER 60 GGEAKGPEDG GAGSAGCGGG AEDPAKKKKQ RRQRTHFTSQ QLQELEATFQ RNRYPDMSMR 120 EEIAVWTNLT EPRVRVWFKN RRAKWRKRER NQQLDLCKGG YVPQFSGLVQ PYEDVYAAGY 180 SYNNWAAKSL APAPLSTKSF TFFNSMSPLS SQSMFSAPSS ISSMTMPSSM GPGAVPGMPN 240 SGLNNINNLT GSSLNSAMSP GACPYGTPAS PYSVYRDTCN SSLASLRLKS KQHSSFGYGG 300 LQGPASGLNA CQYNS 315 |
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 | PITX1 | 508754 | F1MU46 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | PITX1 | 481513 | E2RRG5 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | PITX1 | 102181864 | A0A452DRM8 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | PITX1 | 5307 | P78337 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Pitx1 | 18740 | P70314 | CPO | E12.5, E13.5, E14.5, E15.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | PITX1 | 462072 | A0A2J8LRP3 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | PITX1 | 100689266 | F8SIP6 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | Pitx1 | 113983 | Q99NA7 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | pitx1 | B2LT56 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IBA |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IDA |
| GO:0001085 | RNA polymerase II transcription factor binding | ISO |
| GO:0001085 | RNA polymerase II transcription factor binding | IBA |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA |
| GO:0003700 | DNA-binding transcription factor activity | ISO |
| GO:0005515 | protein binding | IPI |
| GO:0043565 | sequence-specific DNA binding | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001501 | skeletal system development | IMP |
| GO:0006355 | regulation of transcription, DNA-templated | ISO |
| GO:0009653 | anatomical structure morphogenesis | IBA |
| GO:0014707 | branchiomeric skeletal muscle development | IMP |
| GO:0021983 | pituitary gland development | IMP |
| GO:0035116 | embryonic hindlimb morphogenesis | IGI |
| GO:0035116 | embryonic hindlimb morphogenesis | IMP |
| GO:0035137 | hindlimb morphogenesis | IMP |
| GO:0035137 | hindlimb morphogenesis | IDA |
| GO:0045892 | negative regulation of transcription, DNA-templated | IMP |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0048625 | myoblast fate commitment | IMP |
| GO:0051216 | cartilage development | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| GO:0005667 | transcription factor complex | IDA |
| GO:0005737 | cytoplasm | IDA |
| Reactome ID | Reactome Term | Evidence |
|---|