| Tag | Content |
|---|---|
| Uniprot ID | Q8K2G4; Q8C7G3; Q8CH00; Q9CXC2; |
| Entrez ID | 71492 |
| Genbank protein ID | BAC34169.1; AAO16027.1; AAH31505.1; BAB31190.1; |
| Genbank nucleotide ID | NM_027810.3 |
| Ensembl protein ID | ENSMUSP00000047273; ENSMUSP00000103791; |
| Ensembl nucleotide ID | ENSMUSG00000037325 |
| Gene name | Bardet-Biedl syndrome 7 protein homolog |
| Gene symbol | Bbs7 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO,CLP,CLO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 22228099 |
| Functional description | The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for BBSome complex ciliary localization but not for the proper complex assembly (By similarity). |
| Sequence | MDLTLSRADY LQVGVTSQKT MKLLPTSRQR ATQKVVVGDQ DGVVICFGVK KGEAVPVFKT 60 LPGQKISRLE LGGAVNTPQE KIFIAAGSEI RGFTKRGKQF LSFETNLTES IKAMYISGSD 120 LFLSASYIYN HYCDCKDQNY YLSGDKINDV ICLPVEKLSR VTPVLACQDR VLRVLQGSDV 180 MYEIEVPGPP TVLALHNGDG GDSGEGLLFG TSDGRLGLIQ ITTSKPIHKW EIRNDKKRGG 240 ILCVDSFDIM GDGVKDLLVG RDDGMVEVYS FENANEPVLR FDQMLSESVT SIQGGCVGKD 300 GYDEIVLATY SGWVTGLTTE PTHKESGPGE ELKLNQEMQN KISSLRSEIE HLQFKVLQER 360 ENYQQSSQSS QAKSTVPSFS INDKFTLNKE DASYSLVLEV RTAIDNVLIQ SDVPIDLLDV 420 DKNSAVVSFS SCDTESNDNF LLATYRCQAN TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 480 CQVRQYHIKP LSLHQRTHFI DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC 540 ATFYFQNTFL DTQLECVYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 600 SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQVHEGNTD FLTPEYRCIL EEADHLQEEY 660 KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPMLLEIL DSYDQNTLIS FFDAA 715 |
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 | BBS7 | 476092 | E2RQA6 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | BBS7 | 102188122 | A0A452FKE4 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | BBS7 | 100063923 | A0A3Q2H7W6 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | BBS7 | 55212 | Q8IWZ6 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Bbs7 | 71492 | Q8K2G4 | CPO,CLP,CLO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | BBS7 | K7BD37 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | BBS7 | A0A288CFV9 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Bbs7 | 361930 | Q66H90 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | bbs7 | F1Q6W8 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001103 | RNA polymerase II repressing transcription factor binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001654 | eye development | IGI |
| GO:0006357 | regulation of transcription by RNA polymerase II | ISO |
| GO:0007224 | smoothened signaling pathway | IGI |
| GO:0007420 | brain development | IGI |
| GO:0007507 | heart development | IGI |
| GO:0008104 | protein localization | IBA |
| GO:0008104 | protein localization | IMP |
| GO:0015031 | protein transport | IEA |
| GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | ISO |
| GO:0045444 | fat cell differentiation | IEP |
| GO:0046907 | intracellular transport | IBA |
| GO:0060173 | limb development | IGI |
| GO:0060271 | cilium assembly | IBA |
| GO:1903929 | primary palate development | IGI |
| GO:1905515 | non-motile cilium assembly | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001750 | photoreceptor outer segment | IDA |
| GO:0005634 | nucleus | IDA |
| GO:0005813 | centrosome | ISO |
| GO:0005813 | centrosome | IDA |
| GO:0005930 | axoneme | IBA |
| GO:0005930 | axoneme | IDA |
| GO:0016020 | membrane | IBA |
| GO:0016020 | membrane | IDA |
| GO:0034464 | BBSome | ISO |
| GO:0034464 | BBSome | IDA |
| GO:0034464 | BBSome | IBA |
| GO:0036064 | ciliary basal body | IBA |
| GO:0036064 | ciliary basal body | IDA |
| GO:0036064 | ciliary basal body | ISO |
| GO:0043005 | neuron projection | IBA |
| GO:0060170 | ciliary membrane | IEA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1852241 | Organelle biogenesis and maintenance | IEA |
| R-MMU-5617833 | Cilium Assembly | IEA |
| R-MMU-5620920 | Cargo trafficking to the periciliary membrane | IEA |
| R-MMU-5620922 | BBSome-mediated cargo-targeting to cilium | IEA |