| Tag | Content |
|---|---|
| Uniprot ID | Q62231; Q8CIL7; |
| Entrez ID | 20471 |
| Genbank protein ID | CAA56585.1; AAH23304.1; |
| Genbank nucleotide ID | NM_009189.3 |
| Ensembl protein ID | ENSMUSP00000059026 |
| Ensembl nucleotide ID | ENSMUSG00000051367 |
| Gene name | Homeobox protein SIX1 |
| Gene symbol | Six1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 21364285; 17499702; |
| Functional description | Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development (PubMed:12215533, PubMed:12668636, PubMed:12834866, PubMed:14628042, PubMed:14695375). Plays an important role in the development of several organs, including kidney, muscle and inner ear (PubMed:12668636, PubMed:12783782, PubMed:12834866, PubMed:14628042, PubMed:14695375). Depending on context, functions as transcriptional repressor or activator (PubMed:14628042). Lacks an activation domain, and requires interaction with EYA family members for transcription activation (By similarity). Mediates nuclear translocation of EYA1 and EYA2 (By similarity). Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter and CIDEA enhancer (By similarity). Regulates the expression of numerous genes, including MYC, CCNA1, CCND1 and EZR (PubMed:16488997). Acts as activator of the IGFBP5 promoter, probably coactivated by EYA2 (PubMed:11978764). Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex (PubMed:14628042). During myogenesis, seems to act together with EYA2 and DACH2. Regulates the expression of CCNA1 (By similarity). Promotes brown adipocyte differentiation (PubMed:27923061). |
| Sequence | MSMLPSFGFT QEQVACVCEV LQQGGNLERL GRFLWSLPAC DHLHKNESVL KAKAVVAFHR 60 GNFRELYKIL ESHQFSPHNH PKLQQLWLKA HYVEAEKLRG RPLGAVGKYR VRRKFPLPRT 120 IWDGEETSYC FKEKSRGVLR EWYAHNPYPS PREKRELAEA TGLTTTQVSN WFKNRRQRDR 180 AAEAKERENT ENNNSSSNKQ NQLSPLEGGK PLMSSSEEEF SPPQSPDQNS VLLLQSNMGH 240 ARSSNYSLPG LTASQPSHGL QAHQHQLQDS LLGPLTSSLV DLGS 284 |
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 | SIX1 | Q08DI4 | Bos taurus | Prediction | More>> | |||
| 1:1 ortholog | SIX1 | 490719 | J9P3S7 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | SIX1 | 106502564 | A0A452G009 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | SIX1 | 6495 | Q15475 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Six1 | 20471 | Q62231 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | SIX1 | 452952 | H2Q8E8 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | SIX1 | 100156847 | E5DCJ4 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | SIX1 | 100349440 | G1T717 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Six1 | 114634 | G3V970 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IBA |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | ISO |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IBA |
| GO:0001223 | transcription coactivator binding | ISO |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISO |
| GO:0003677 | DNA binding | ISO |
| GO:0003682 | chromatin binding | IGI |
| GO:0003700 | DNA-binding transcription factor activity | ISO |
| GO:0003700 | DNA-binding transcription factor activity | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0043565 | sequence-specific DNA binding | ISO |
| GO:0043565 | sequence-specific DNA binding | IDA |
| GO:0044212 | transcription regulatory region DNA binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA |
| GO:0001657 | ureteric bud development | IMP |
| GO:0001657 | ureteric bud development | IGI |
| GO:0001658 | branching involved in ureteric bud morphogenesis | IGI |
| GO:0001759 | organ induction | IMP |
| GO:0001822 | kidney development | IMP |
| GO:0003151 | outflow tract morphogenesis | IGI |
| GO:0006355 | regulation of transcription, DNA-templated | IDA |
| GO:0006915 | apoptotic process | IEA |
| GO:0007389 | pattern specification process | IGI |
| GO:0007389 | pattern specification process | IMP |
| GO:0007519 | skeletal muscle tissue development | IGI |
| GO:0007519 | skeletal muscle tissue development | IMP |
| GO:0007519 | skeletal muscle tissue development | IBA |
| GO:0007605 | sensory perception of sound | IMP |
| GO:0008582 | regulation of synaptic growth at neuromuscular junction | IGI |
| GO:0010468 | regulation of gene expression | IGI |
| GO:0014842 | regulation of skeletal muscle satellite cell proliferation | IDA |
| GO:0014857 | regulation of skeletal muscle cell proliferation | IBA |
| GO:0021610 | facial nerve morphogenesis | IMP |
| GO:0022008 | neurogenesis | IMP |
| GO:0030855 | epithelial cell differentiation | IMP |
| GO:0030878 | thyroid gland development | IMP |
| GO:0030910 | olfactory placode formation | IMP |
| GO:0032880 | regulation of protein localization | IGI |
| GO:0034504 | protein localization to nucleus | ISO |
| GO:0035909 | aorta morphogenesis | IGI |
| GO:0042472 | inner ear morphogenesis | IGI |
| GO:0042474 | middle ear morphogenesis | IMP |
| GO:0043066 | negative regulation of apoptotic process | IMP |
| GO:0043524 | negative regulation of neuron apoptotic process | IMP |
| GO:0043586 | tongue development | IMP |
| GO:0045664 | regulation of neuron differentiation | IMP |
| GO:0045664 | regulation of neuron differentiation | IGI |
| GO:0045892 | negative regulation of transcription, DNA-templated | IBA |
| GO:0045893 | positive regulation of transcription, DNA-templated | IMP |
| GO:0045893 | positive regulation of transcription, DNA-templated | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0048538 | thymus development | IGI |
| GO:0048538 | thymus development | IMP |
| GO:0048665 | neuron fate specification | IGI |
| GO:0048699 | generation of neurons | IMP |
| GO:0048701 | embryonic cranial skeleton morphogenesis | IGI |
| GO:0048704 | embryonic skeletal system morphogenesis | IGI |
| GO:0048705 | skeletal system morphogenesis | IMP |
| GO:0048741 | skeletal muscle fiber development | IBA |
| GO:0048839 | inner ear development | IMP |
| GO:0048856 | anatomical structure development | IGI |
| GO:0048856 | anatomical structure development | IBA |
| GO:0050678 | regulation of epithelial cell proliferation | IMP |
| GO:0051451 | myoblast migration | IGI |
| GO:0060037 | pharyngeal system development | IMP |
| GO:0060037 | pharyngeal system development | IGI |
| GO:0061055 | myotome development | IMP |
| GO:0061197 | fungiform papilla morphogenesis | IMP |
| GO:0061551 | trigeminal ganglion development | IMP |
| GO:0071599 | otic vesicle development | IMP |
| GO:0071599 | otic vesicle development | IGI |
| GO:0072075 | metanephric mesenchyme development | IMP |
| GO:0072095 | regulation of branch elongation involved in ureteric bud branching | IMP |
| GO:0072107 | positive regulation of ureteric bud formation | IMP |
| GO:0072172 | mesonephric tubule formation | IMP |
| GO:0072193 | ureter smooth muscle cell differentiation | IMP |
| GO:0072513 | positive regulation of secondary heart field cardioblast proliferation | IGI |
| GO:0090103 | cochlea morphogenesis | IMP |
| GO:0090190 | positive regulation of branching involved in ureteric bud morphogenesis | IMP |
| GO:0090190 | positive regulation of branching involved in ureteric bud morphogenesis | IGI |
| GO:0090336 | positive regulation of brown fat cell differentiation | IMP |
| GO:1905243 | cellular response to 3,3',5-triiodo-L-thyronine | ISO |
| GO:2000729 | positive regulation of mesenchymal cell proliferation involved in ureter development | IGI |
| GO:2001014 | regulation of skeletal muscle cell differentiation | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005667 | transcription factor complex | IDA |
| GO:0005667 | transcription factor complex | IBA |
| GO:0005730 | nucleolus | ISO |
| GO:0005737 | cytoplasm | IEA |
| Reactome ID | Reactome Term | Evidence |
|---|