| Tag | Content |
|---|---|
| Uniprot ID | F1LSL4 |
| Entrez ID | |
| Genbank protein ID | |
| Genbank nucleotide ID | |
| Ensembl protein ID | ENSRNOP00000011500 |
| Ensembl nucleotide ID | ENSRNOG00000008635 |
| Gene name | Meckel syndrome type 1 protein homolog |
| Gene symbol | Mks1 |
| Organism | Rattus norvegicus |
| NCBI taxa ID | 10116 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | |
| Sequence | MAEAVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAQMGKD LIDLATFKPP 60 QAASGHRPDE EEEEEVIIGW QEKLFSQFEV DLYQNESACQ SPLDHQYRQE VLKLENSGGR 120 KNRRIFTYTD SDRYTDLEEY CQKITTSASE APSFLVERMA NVRRRRQDRR GVEGSKLKSR 180 IITWEPSEDF IRNSHAINTP LQTMYIMADL GPYGKLGYKI HEHVLCVLKV DSNGVITVKP 240 DFTGIKGPYR IETEGEKQEH TSAWKYTIDN VSSLAQPEEE EREQRVFKDL YGRHKEYLSS 300 LVGTDFEMIA PGALRLFVNG EVVSARGYEH DNLYVHFFVE LPATNWSSPS FQQLSGVTQT 360 CVTRSLGMDK VAYFSFPFTF EAFFLHEDES DESLPEWPVL YCKVLSLDFW QRYRVEGYGA 420 VVLPVTPGSH TLTASTWRPM ELGLVAELRR FFIGGSLELE DPSYVRIPGT FKGERLSRFG 480 FRTETTGTVT FRLHCLQQSR AFMESNSLRK QMRSVLDRLE GFSQQSSTHN VLEAFRRARR 540 RMQEARESLP QDLVSPTGTL A 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 |
|---|---|
| GO:0005814 | centriole |
| GO:0005813 | centrosome |
| GO:0036064 | ciliary basal body |
| GO:0005737 | cytoplasm |
| GO:0016020 | membrane |
| GO:0036038 | MKS complex |
| GO:0048754 | branching morphogenesis of an epithelial tube |
| GO:0060411 | cardiac septum morphogenesis |
| GO:0061009 | common bile duct development |
| GO:0007368 | determination of left/right symmetry |
| GO:1990403 | embryonic brain development |
| GO:0042733 | embryonic digit morphogenesis |
| GO:0048706 | embryonic skeletal system development |
| GO:0010669 | epithelial structure maintenance |
| GO:0060322 | head development |
| GO:0060122 | inner ear receptor cell stereocilium organization |
| GO:0044458 | motile cilium assembly |
| GO:0001843 | neural tube closure |
| GO:1905515 | non-motile cilium assembly |
| GO:0060828 | regulation of canonical Wnt signaling pathway |
| GO:1901620 | regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning |
| GO:2000095 | regulation of Wnt signaling pathway, planar cell polarity pathway |
| GO:0003271 | smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation |
| Keyword ID | Keyword Term |
|---|---|
| KW-1185 | Reference proteome |
| InterPro ID | InterPro Term |
|---|---|
| IPR010796 | B9_dom |
| PROSITE ID | PROSITE Term |
|---|---|
| PS51381 | B9 |
| Pfam ID | Pfam Term |
|---|---|
| PF07162 | B9-C2 |