| Tag | Content |
|---|---|
| Uniprot ID | H2QDI7; A0A2J8MF94; |
| Entrez ID | 455153 |
| Genbank protein ID | JAA33347.1; JAA22278.1; JAA20608.1; JAA00877.1; |
| Genbank nucleotide ID | XM_001172592.4 |
| Ensembl protein ID | ENSPTRP00000016039 |
| Ensembl nucleotide ID | ENSPTRG00000009447 |
| Gene name | MKS transition zone complex subunit 1 |
| Gene symbol | MKS1 |
| Organism | Pan troglodytes |
| NCBI taxa ID | 9598 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | |
| Sequence | MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD LIDLATFRPQ 60 PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ SPLDYQYRQE ILKLENSGGK 120 KNRRIFTYTD SDRYTNLEEH CQRMTTAASE VPSFLVERMA NVRRRRQDRR GMEGSILKSR 180 IVTWEPSEEF VRNNHVINTP LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP 240 DFTGLKGPYR IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG 300 TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ LSGVTQTCTT 360 KSLGMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE VLSLDFWQRY RVEGYGAVVL 420 PATPGSHTLT VSTWRPVELG TVAELRRFFI GGSLELEDLS YVRIPGSFKG ERLSRFGLRT 480 ETTGTVTFRL HCLQQSRAFM ESSSLRKRMR SVLDRLEGFS QQSSIHNVLE AFRRARRRMQ 540 EARESLPQDL VSHSGTLVS 559 |
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 |
| InterPro ID | InterPro Term |
|---|---|
| IPR010796 | B9_dom |
| PROSITE ID | PROSITE Term |
|---|---|
| PS51381 | B9 |
| Pfam ID | Pfam Term |
|---|---|
| PF07162 | B9-C2 |