Tag | Content |
---|---|
Uniprot ID | A0A452FKE4 |
Entrez ID | 102188122 |
Genbank protein ID | |
Genbank nucleotide ID | XM_005681255.3 |
Ensembl protein ID | ENSCHIP00000024748 |
Ensembl nucleotide ID | ENSCHIG00000021804 |
Gene name | Bardet-Biedl syndrome 7 protein homolog |
Gene symbol | BBS7 |
Organism | Capra hircus |
NCBI taxa ID | 9925 |
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 MKLLPASKHR ATQKVVVGDH DGIVMCFGMK KGEAVTVFKT 60 LPGQKIARLE LGGVLNTPQE KIFIAAGSEI RGFTKRGKQF LSFETNLTES IKAMHISGSD 120 LFLSASYIYN HYCDCKDQHY YLSGDKINDV ICLPVERLLR EVPVLACQDR VLRVLQGSDV 180 TYEIEVPGPP TVLALHNGNG GDSGEDLLFG TSDGKLGLIQ ITTSKPIHKW EIRNEKKRGG 240 ILCVDSFDIV GDGVKDLLVG RDDGMVEVYS FDNANEPVLR FDHMLSESVT SIQGGCVGKD 300 GYDEIVVSTY SGWVTGLTTE PVHKESGPGE EIKFNQEMQN KISSLRSELE QLQYKVLQER 360 EKYQQSSQSS KAKSAVPSFS VNDKFTLNKD DASYSLILEV QTAIDNVLIQ SDVPIDLLDV 420 DKNSAVVSFS SCDSESNDNF LLATYRCQAN TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 480 CQVRQYHIKP LSLHQRTHVI DHDRPMNTLT LTGQFSFSEL HSWVVFCMPE VPEKPPAGEC 540 VTFYFQNTFL DTQLESTYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 600 SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQVHEGNTN FLIPEYRSIL EEADHLQEEY 660 KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPLLLEIL 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:0034464 | BBSome |
GO:0005813 | centrosome |
GO:0036064 | ciliary basal body |
GO:0005737 | cytoplasm |
GO:0001103 | RNA polymerase II repressing transcription factor binding |
GO:1905515 | non-motile cilium assembly |
GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
GO:0015031 | protein transport |
GO:0006357 | regulation of transcription by RNA polymerase II |