| Tag | Content |
|---|---|
| Uniprot ID | A0A288CFV9 |
| Entrez ID | |
| Genbank protein ID | |
| Genbank nucleotide ID | |
| Ensembl protein ID | ENSSSCP00000009703 |
| Ensembl nucleotide ID | ENSSSCG00000009093 |
| Gene name | Bardet-Biedl syndrome 7 |
| Gene symbol | BBS7 |
| Organism | Sus scrofa |
| NCBI taxa ID | 9823 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | |
| Sequence | MAVKTNSWRD PFPVAVKQVR INQGSKSRDS TERLKRCSLG RRRGSETASS VSLETTLLVS 60 PGPRPLFLSA SHWSGLSQWA VCQGFISVPA HSQERTDVTQ DASALWLRLG IPLRGQSSWR 120 CPFRGDASGS SPRRPGLWQP LSPFSPPGAA QRGAAVMDLN LNRMDYLQVG VTSQKTMKLL 180 PASGNRATQK VVVGDHDGIV MCFGMKKGEA VTVFKTLPGQ KIARLELGGV LNTPQEKIFI 240 AAGSEIRGFT KRGKQFLSFE TNLTESIKAM HISGSDLFLS ASYIYNHYCD CKDQHYYLSG 300 DKINDVICLP VERVLRDIPV LACQDRVLRV LQGSDVMYEI EVPGPPTVLA LHNGNGGDSG 360 EDLLFGTSDG KLGLIQITTS KPIHKWEIRN EKKRGGILCV DSFDIVGDGV KDLLVGRDDG 420 MVEVYSFDNT NEPILRFDQT LSESVTSIQG GCVGKAGYDE IVVSTYSGWV TGLTTEPIHK 480 ESGPGEELKI NPEIQNKISS LRSELEHLQY KVLQEREKYQ QSSQSSKAKS AVPSFSINDK 540 FTLNKDDASY SLILEVQTAI DNVLIQSDVP IDLLDMDKNS AVVSFSSCDS ESNENFLLAT 600 YRCQANTTRL ELKIRSIEGQ YGTLQAYVTP RIQPKTCQVR QYLIKPLSLH QRTHFIDHDR 660 PMNTLTLTGQ FSFAELHSWV VFCLPEVPEK PPAGECVTFY FQNTFLDTQL ESTYRKGEGV 720 FKSDNISTIS ILKDVLSKEA TKRKINLNIS YEINEVSVRH TLKLIHPKLE YQLLLAKKVQ 780 LIDALKELQV HEGNTDFLIP EYRCILEEAD HLQEEYKKQP AHLERLYGMI TDLFIDKFKF 840 KGTNVKTKVP LLLEILDSYD QNALIAFFDA A 871 |
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:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
| GO:1903929 | primary palate development |
| GO:0008104 | protein localization |
| GO:0006357 | regulation of transcription by RNA polymerase II |
| GO:0007224 | smoothened signaling pathway |
| InterPro ID | InterPro Term |
|---|---|
| IPR036322 | WD40_repeat_dom_sf |