| Tag | Content |
|---|---|
| Uniprot ID | K7BD37; A0A2J8LX25; H2QQ41; |
| Entrez ID | |
| Genbank protein ID | JAA09960.1; JAA40104.1; JAA18673.1; JAA28045.1; |
| Genbank nucleotide ID | XM_003310464.4 |
| Ensembl protein ID | ENSPTRP00000028183 |
| Ensembl nucleotide ID | ENSPTRG00000016411 |
| Gene name | Bardet-Biedl syndrome 7 protein homolog |
| Gene symbol | BBS7 |
| Organism | Pan troglodytes |
| NCBI taxa ID | 9598 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| 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. |
| Sequence | MDLILNRMDY LQVGVTSQKT MKLIPASRHR ATQKVVIGDH DGVVMCFGMK KGEAAAVFKT 60 LPGPKIARLE LGGVINTPQE KIFIAAASEI RGFTKRGKQF LSFETNLTES IKAMHISGSD 120 LFLSASYIYN HYCDCKDQHY YLSGDKINDV ICLPVERLSR ITPVLACQDR VLRVLQGSDV 180 MYAIEVPGPP TVLALHNGNG GDSGEDLLFG TSDGKLALIQ ITTSKPVRKW EIQNEKKRGG 240 ILCIDSFDIV GDGVKDLLVG RDDGMVEVYS FDNANEPVLR FDQMLSESVT SIQGGCVGKD 300 SYDEIVVSTY SGWVTGLTTE PIHKESGPGE ELKINQEMQN KISSLRNELE HLQYKVLQER 360 ENYQQSSQSS KAKSAVPSFG INDKFTLNKD DASYSLILEV QTAIDNVLIQ SDVPIDLLDV 420 DKNSAVVSFS SCDSESNDNF LLATYRCQAD TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 480 CQVRQYHIKP LSLHQRTHFI DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC 540 VTFYFQNTFL DTQLESTYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 600 SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQIHEGNTN FLIPEYHCIL EEADHLQEEY 660 KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPLLLEIL DSYDQNALIS 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 |
|---|---|
| GO:0005930 | axoneme |
| GO:0034464 | BBSome |
| GO:0005813 | centrosome |
| GO:0036064 | ciliary basal body |
| GO:0016020 | membrane |
| GO:0043005 | neuron projection |
| GO:0005634 | nucleus |
| GO:0001750 | photoreceptor outer segment |
| GO:0001103 | RNA polymerase II repressing transcription factor binding |
| GO:0007420 | brain development |
| GO:0060271 | cilium assembly |
| GO:0001654 | eye development |
| GO:0045444 | fat cell differentiation |
| GO:0007507 | heart development |
| GO:0046907 | intracellular transport |
| GO:0060173 | limb development |
| GO:1905515 | non-motile cilium assembly |
| GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
| GO:1903929 | primary palate development |
| GO:0008104 | protein localization |
| GO:0015031 | protein transport |
| GO:0006357 | regulation of transcription by RNA polymerase II |
| GO:0007224 | smoothened signaling pathway |