| Tag | Content |
|---|---|
| Uniprot ID | P0C5J2 |
| Entrez ID | 287383 |
| Genbank protein ID | |
| Genbank nucleotide ID | XM_017597643.1; NM_001105786.1; XM_017604077.1; |
| Ensembl protein ID | ENSRNOP00000065889; ENSRNOP00000003402; |
| Ensembl nucleotide ID | ENSRNOG00000002462; ENSRNOG00000047790; |
| Gene name | B9 domain-containing protein 1 |
| Gene symbol | B9d1 |
| Organism | Rattus norvegicus |
| NCBI taxa ID | 10116 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| 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. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). |
| Sequence | MAAASPSVFL LMVNGQVESA QFPEYDDLYC KYCFVYGQDW APTAGLEEGI SQIASKSQDV 60 RQALVWNFPI DVTFKSTNPY GWPQIVLSVY GPDVFGNDVV RGYGAVHVPF SPGRHKRTIP 120 MFVPESTSTL QKFTSWFMGR RPEYTDPKVV AQGEGREVTR VRSQGFVTLL FNVVTKDMKK 180 LGYDTGPVDT QGVLSPSLPQ GNPQ 204 |
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 | B9D1 | 505335 | E1BKI6 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | B9D1 | 102180795 | A0A452G5L1 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | B9D1 | 100063389 | F7BHN1 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | B9D1 | 27077 | Q9UPM9 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | B9d1 | 27078 | Q9R1S0 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | B9D1 | 742196 | H2QCF2 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | B9D1 | A0A287BIY2 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | B9d1 | 287383 | P0C5J2 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | b9d1 | F1QU58 | Danio rerio | Prediction | More>> |
| GO ID | GO Term |
|---|---|
| GO:0005813 | centrosome |
| GO:0036064 | ciliary basal body |
| GO:0035869 | ciliary transition zone |
| GO:0005737 | cytoplasm |
| GO:0016020 | membrane |
| GO:0036038 | MKS complex |
| GO:0008158 | hedgehog receptor activity |
| GO:0043010 | camera-type eye development |
| GO:0060271 | cilium assembly |
| GO:0042733 | embryonic digit morphogenesis |
| GO:0001701 | in utero embryonic development |
| GO:0060563 | neuroepithelial cell differentiation |
| GO:0032880 | regulation of protein localization |
| GO:0007224 | smoothened signaling pathway |
| GO:0001944 | vasculature development |
| InterPro ID | InterPro Term |
|---|---|
| IPR010796 | B9_dom |
| PROSITE ID | PROSITE Term |
|---|---|
| PS51381 | C2_B9 |
| Pfam ID | Pfam Term |
|---|---|
| PF07162 | B9-C2 |