| Tag | Content |
|---|---|
| Uniprot ID | E2RQA6 |
| Entrez ID | 476092 |
| Genbank protein ID | |
| Genbank nucleotide ID | XM_533301.4 |
| Ensembl protein ID | ENSCAFP00000006124 |
| Ensembl nucleotide ID | ENSCAFG00000004128 |
| Gene name | Bardet-Biedl syndrome 7 protein homolog |
| Gene symbol | BBS7 |
| Organism | Canis lupus familiaris |
| NCBI taxa ID | 9615 |
| 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 | MDLNLNRADY LQVGVTSQKT MKLLPASRHK ATQKVVIGDH DGVVMCFGMK KGEAVAVFKT 60 LPGQKIARLE LGGVLNTPQE KIFIAAGSEI RGFTKRGKQF LSFETNLTES IKAMYISGSD 120 LFLSASYIYN HYCDCKDQHY YLSGDKINDV ICLPVERLPR ITPILACQDR VLRVLQGSDV 180 MYETEVPGPP TVLALHNGNG GDSGEELLFG TSDGKLGLIQ ITTSKPIHKW EIQNEKKRGG 240 ILCVDSFDIV GDGVKDLLVG RDDGMVEVYS FDNANEPVLR FDQMLSESVT SIQGGCIGKD 300 GYDEIVVSTY SGWVTGLTTE PIHKESGPGE ELKINQEMQN KISSLRSELE HLQYKVLQER 360 EKYQQSSQSS KAKSAVPSFS VNDKFTLNKD DASYSLILEV QTAIDNVLIQ SDVPIDLLDV 420 DKNSAVVSFS SCDSESNDNF LLATYRCQAN TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 480 CQVHQYLIKP LSLHQRTHFI DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC 540 VTFYFQNTFL DTQLESTYRK GEGIFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 600 SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQVHEGNTD FLIPEYRCIL EEADHLQEEY 660 KKQPAHLERL YGMITDLFID KFKFKGTNVK TRVPLLLEIL DSYDQNALIA 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 |