| Tag | Content |
|---|---|
| Uniprot ID | O35602; O08748; Q6GT92; |
| Entrez ID | 19434 |
| Genbank protein ID | EDL09676.1; AAB62324.1; AAH24731.1; AAC53129.1; AAH58757.1; |
| Genbank nucleotide ID | NM_013833.2 |
| Ensembl protein ID | ENSMUSP00000025396 |
| Ensembl nucleotide ID | ENSMUSG00000024518 |
| Gene name | Retinal homeobox protein Rx |
| Gene symbol | Rax |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 9177348; 15789424; |
| Functional description | Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter (By similarity). |
| Sequence | MHLPGCAPAM ADGSFSLAGH LLRSPGGSTS RLHSIEAILG FTKEDGILDT FPAERSSRSS 60 KERDPRLGAQ PACPKAPAGG SESSPPAAPG FVPEYEATRP CYPKEQGEAR PSPGLSVGPA 120 AGDSKLSEEE PPKKKHRRNR TTFTTYQLHE LERAFEKSHY PDVYSREELA GKVNLPEVRV 180 QVWFQNRRAK WRRQEKLEVS SMKLQDSPLL SFSRSPPSSA LAPLGTGPGS GSGPPGSALP 240 LEPWLGPPLP GGGATALQSL PGFGPPGQGL PASYTPPPPF LNSAPLGPGL QQLGPPPAYP 300 CAPAFGDKFS LEEAYPRNSS IAALRLKAKE HIQAIGKPWQ AL 342 |
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 | RAX | 108633766 | A0A452ER72 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | RAX | 30062 | Q9Y2V3 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Rax | 19434 | O35602 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | RAX | 468552 | H2QEL5 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | Rax | D3ZLM8 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | ISO |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0007389 | pattern specification process | IMP |
| GO:0007420 | brain development | IMP |
| GO:0021854 | hypothalamus development | IMP |
| GO:0043010 | camera-type eye development | IMP |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0060173 | limb development | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | IEA |
| Reactome ID | Reactome Term | Evidence |
|---|