| Tag | Content |
|---|---|
| Uniprot ID | Q66H90 |
| Entrez ID | 361930 |
| Genbank protein ID | AAH81968.1 |
| Genbank nucleotide ID | NM_001012180.1 |
| Ensembl protein ID | ENSRNOP00000021453 |
| Ensembl nucleotide ID | ENSRNOG00000015816 |
| Gene name | Bardet-Biedl syndrome 7 protein homolog |
| Gene symbol | Bbs7 |
| Organism | Rattus norvegicus |
| NCBI taxa ID | 10116 |
| 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 | MDLTLSRADY LQVGVTSQKT MKLLPTSRQR ATQKVVIGDQ DGVVMCFGMK KGEAVSVFKT 60 LPGQKVSRLE LGGALNTPQE KIFIAAGSEI RGFTKRGKQF LSFETNLTES IKAMYISGSD 120 LFLSASYIYN HYCDCKDQNY YLSGDKINDV ICLPVERLSR VTPVLACQDR VLRVLQGSDV 180 TYEIEVPGPP TVLALHNGDG GDSGEGLLFG TSDGRLGLIQ ITASKPIHKW EIRNDKKRGG 240 ILCLDSFDIM GDGVKDLLVG RDDGMVEVYS FENANEPVLR FDQMLSESVT SVQGGCVGKD 300 GYDEIVLATY SGWVTGLTTE PTHKESGPGE ELKLNQEMQN KIASLRTELE HLQLKVLQER 360 ENYQQSSQSS QAKSTVPSFS INDKFTLNKD DASYSLVLEV RTAIDNVLIQ SDVPIDLLDV 420 DKNSAVVSFS SCDTESNDNF LLATYRCQAN TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 480 CQVRQYHIKP LSLHQRTHFI DHDRPMNTLT LTGQFSFAEV HSWAVLCLPE VPEKPPAGEC 540 ATFYFQNTFL DTQLECAYRK GEGIFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 600 SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQVHEGNTS FLIPEYRCIL EEADHLQEEY 660 KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPVLLEIL 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 |
|---|---|
| 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 |