| Tag | Content |
|---|---|
| Uniprot ID | P41778 |
| Entrez ID | 18514 |
| Genbank protein ID | AAH58390.1; AAA21832.1; AAB71191.1; |
| Genbank nucleotide ID | NM_008783.3; NM_183355.3; NM_001291508.1; |
| Ensembl protein ID | ENSMUSP00000140606; ENSMUSP00000135516; ENSMUSP00000072640; ENSMUSP00000134925; |
| Ensembl nucleotide ID | ENSMUSG00000052534 |
| Gene name | Pre-B-cell leukemia transcription factor 1 |
| Gene symbol | Pbx1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO,CLP,CLO |
| Developmental stage | E13.5 |
| Data sources | Manually collected |
| Reference | 21982646; 29797482; |
| Functional description | Plays a role in the cAMP-dependent regulation of CYP17 gene expression via its cAMP-regulatory sequence (CRS1) 5'-ATCAATCAA-3'. Acts as a transcriptional activator of PF4 in complex with MEIS1. May have a role in steroidogenesis and, subsequently, sexual development and differentiation. Isoform PBX1b as part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Probably in complex with MEIS2, is involved in transcriptional regulation by KLF4. Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B. Together with NKX2-5, it is required for spleen development through a mechanism that involves CDKN2B repression. |
| Sequence | MDEQPRLMHS HAGVGMAGHP GLSQHLQDGA GGTEGEGGRK QDIGDILQQI MTITDQSLDE 60 AQARKHALNC HRMKPALFNV LCEIKEKTVL SIRGAQEEEP TDPQLMRLDN MLLAEGVAGP 120 EKGGGSAAAA AAAAASGGAG SDNSVEHSDY RAKLSQIRQI YHTELEKYEQ ACNEFTTHVM 180 NLLREQSRTR PISPKEIERM VSIIHRKFSS IQMQLKQSTC EAVMILRSRF LDARRKRRNF 240 NKQATEILNE YFYSHLSNPY PSEEAKEELA KKCGITVSQV SNWFGNKRIR YKKNIGKFQE 300 EANIYAAKTA VTATNVSAHG SQANSPSTPN SAGSSSSFNM SNSGDLFMSV QSLNGDSYQG 360 AQVGANVQSQ VDTLRHVISQ TGGYSDGLAA SQMYSPQGIS ANGGWQDATT PSSVTSPTEG 420 PGSVHSDTSN |
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 | PBX1 | F1PDM8 | Canis lupus familiaris | Prediction | More>> | |||
| 1:1 ortholog | PBX1 | A0A452FB79 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | PBX1 | 5087 | P40424 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Pbx1 | 18514 | P41778 | CPO,CLP,CLO | E13.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | PBX1 | 457474 | A0A2I3RPY9 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | Pbx1 | D3ZJI6 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IDA |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA |
| GO:0003677 | DNA binding | ISO |
| GO:0003677 | DNA binding | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0008134 | transcription factor binding | ISO |
| GO:0043565 | sequence-specific DNA binding | IDA |
| GO:0043565 | sequence-specific DNA binding | IGI |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001655 | urogenital system development | IMP |
| GO:0001658 | branching involved in ureteric bud morphogenesis | IDA |
| GO:0006694 | steroid biosynthetic process | IEA |
| GO:0007548 | sex differentiation | IEA |
| GO:0008284 | positive regulation of cell population proliferation | IMP |
| GO:0009887 | animal organ morphogenesis | IMP |
| GO:0009952 | anterior/posterior pattern specification | IMP |
| GO:0009954 | proximal/distal pattern formation | IMP |
| GO:0009954 | proximal/distal pattern formation | IGI |
| GO:0010971 | positive regulation of G2/M transition of mitotic cell cycle | IMP |
| GO:0030278 | regulation of ossification | IMP |
| GO:0030325 | adrenal gland development | IMP |
| GO:0030326 | embryonic limb morphogenesis | IGI |
| GO:0035162 | embryonic hemopoiesis | IMP |
| GO:0042127 | regulation of cell population proliferation | IMP |
| GO:0043433 | negative regulation of DNA-binding transcription factor activity | ISO |
| GO:0045665 | negative regulation of neuron differentiation | IGI |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0048536 | spleen development | IGI |
| GO:0048536 | spleen development | IMP |
| GO:0048538 | thymus development | IMP |
| GO:0048568 | embryonic organ development | IMP |
| GO:0048706 | embryonic skeletal system development | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005654 | nucleoplasm | TAS |
| GO:0005667 | transcription factor complex | IDA |
| GO:0005737 | cytoplasm | ISO |
| GO:0005737 | cytoplasm | IDA |
| GO:0090575 | RNA polymerase II transcription factor complex | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|
| Keyword ID | Keyword Term |
|---|---|
| KW-0002 | 3D-structure |
| KW-0010 | Activator |
| KW-0025 | Alternative splicing |
| KW-0217 | Developmental protein |
| KW-0221 | Differentiation |
| KW-0903 | Direct protein sequencing |
| KW-0238 | DNA-binding |
| KW-0371 | Homeobox |
| KW-0539 | Nucleus |
| KW-1185 | Reference proteome |
| KW-0726 | Sexual differentiation |
| KW-0755 | Steroidogenesis |
| KW-0804 | Transcription |
| KW-0805 | Transcription regulation |