InnateDB Protein
|
IDBP-36454.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
BBS7
|
Protein Name
|
Bardet-Biedl syndrome 7
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000264499
|
InnateDB Gene
|
IDBG-36452 (BBS7)
|
Protein Structure
|
|
Function |
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. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. {ECO:0000269PubMed:17574030, ECO:0000269PubMed:22072986}.
|
Subcellular Localization |
Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
|
Disease Associations |
Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7, influence the clinical outcome.Bardet-Biedl syndrome 7 (BBS7) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269PubMed:12567324, ECO:0000269PubMed:12677556, ECO:0000269PubMed:15770229, ECO:0000269PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated |
Total |
30
[view]
|
Protein-Protein |
30
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
8 [view]
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0001103
|
RNA polymerase II repressing transcription factor binding
|
GO:0005515
|
protein binding
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR016575
Bardet-Biedl syndrome 7 protein
IPR017986
WD40-repeat-containing domain
|
PFAM |
|
PRINTS |
|
PIRSF |
PIRSF011091
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q8IWZ6
|
PhosphoSite |
PhosphoSite-Q8IWZ6
|
TrEMBL |
H0Y973
|
UniProt Splice Variant |
|
Entrez Gene |
55212
|
UniGene |
Hs.591694
|
RefSeq |
NP_789794
|
HUGO |
HGNC:18758
|
OMIM |
607590
|
CCDS |
CCDS3724
|
HPRD |
07399
|
IMGT |
|
EMBL |
AC079341
AF521643
AF521644
AK001577
BC032691
|
GenPept |
AAH32691
AAO16025
AAO16026
AAY40970
BAA91767
|
|
|