| Tag | Content |
|---|---|
| Uniprot ID | Q5SW45; Q3V3W3; |
| Entrez ID | 380718 |
| Genbank protein ID | BAE20467.1 |
| Genbank nucleotide ID | NM_001039684.2 |
| Ensembl protein ID | ENSMUSP00000043790 |
| Ensembl nucleotide ID | ENSMUSG00000034121 |
| Gene name | Meckel syndrome type 1 protein homolog |
| Gene symbol | Mks1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO,CLP,CLO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 21045211; 23454480; |
| Functional description | Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. |
| Sequence | MAEAVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAQMGKD LIDLATFRPP 60 QAASGHRPDE EEEEEVVIGW QEKLFSQFEV DLYQNESACQ SPLDHQYRQE ILKLENSGGR 120 KNRRIFTYTD SDRYTDLEEY CQKITTSASE VPSFLAERMA NVRRRRQDRR GVEGSKLKSR 180 IVTWEPSEDF IKNNHAINTP LQTMYIMADL GPYGKLGYKV HEHVLCILKV DSNGVITVKP 240 DFTGIKGPYR IETEGEKQEH TSAWKYTIDN VSSLAQPEEE EREQRVFKDL YGRHKEYLSS 300 LVGTDFEMIA PGALRLFVNG EVVSAQGYEY DNLYVHFFVE LPAANWSSPP FQQLSGVTQA 360 CATKSLGMDK VAYFSFPFTF EAFFLHEDES AESLPEWPVL YCKVLSLDFW QRYRVEGYGA 420 VVLPATPGSH TLTVSTWRPM ELGLVAELRR FFIGGSLELE DPSYVRIPGT FKGERLSRFG 480 FRTETTGTVT FRLHCLQQSR AFMESNSLQK QMRSVLDRLE GFSQQSSTHN VLEAFRRARR 540 RMQEARESLP QDLVSPTGTL T 561 |
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 | MKS1 | 101905689 | A6QQN3 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | MKS1 | 102185497 | A0A452FUL1 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | MKS1 | 54903 | Q9NXB0 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Mks1 | 380718 | Q5SW45 | CPO,CLP,CLO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | MKS1 | 455153 | H2QDI7 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | Mks1 | F1LSL4 | Rattus norvegicus | Prediction | More>> | |||
| 1:1 ortholog | mks1 | 556706 | A3QK09 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005515 | protein binding | IPI |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001843 | neural tube closure | IMP |
| GO:0003271 | smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation | IMP |
| GO:0007368 | determination of left/right symmetry | IMP |
| GO:0008589 | regulation of smoothened signaling pathway | IMP |
| GO:0010669 | epithelial structure maintenance | IMP |
| GO:0042733 | embryonic digit morphogenesis | IMP |
| GO:0044458 | motile cilium assembly | IMP |
| GO:0048706 | embryonic skeletal system development | IMP |
| GO:0048754 | branching morphogenesis of an epithelial tube | IMP |
| GO:0060122 | inner ear receptor cell stereocilium organization | IMP |
| GO:0060271 | cilium assembly | ISO |
| GO:0060271 | cilium assembly | IMP |
| GO:0060322 | head development | IMP |
| GO:0060411 | cardiac septum morphogenesis | IMP |
| GO:0060828 | regulation of canonical Wnt signaling pathway | IMP |
| GO:0061009 | common bile duct development | IMP |
| GO:1901620 | regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning | IMP |
| GO:1905515 | non-motile cilium assembly | IMP |
| GO:1990403 | embryonic brain development | IMP |
| GO:2000095 | regulation of Wnt signaling pathway, planar cell polarity pathway | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005737 | cytoplasm | ISO |
| GO:0005813 | centrosome | ISO |
| GO:0005813 | centrosome | IDA |
| GO:0005814 | centriole | IDA |
| GO:0016020 | membrane | IDA |
| GO:0035869 | ciliary transition zone | IMP |
| GO:0035869 | ciliary transition zone | IDA |
| GO:0036038 | MKS complex | IDA |
| GO:0036064 | ciliary basal body | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-1852241 | Organelle biogenesis and maintenance | IEA |
| R-MMU-5358351 | Signaling by Hedgehog | IEA |
| R-MMU-5610787 | Hedgehog 'off' state | IEA |
| R-MMU-5617833 | Cilium Assembly | IEA |
| R-MMU-5620912 | Anchoring of the basal body to the plasma membrane | IEA |
| InterPro ID | InterPro Term |
|---|---|
| IPR010796 | B9_dom |
| PROSITE ID | PROSITE Term |
|---|---|
| PS51381 | C2_B9 |
| Pfam ID | Pfam Term |
|---|---|
| PF07162 | B9-C2 |