InnateDB Protein
|
IDBP-371711.5
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
BBS9
|
Protein Name
|
Bardet-Biedl syndrome 9
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000405151
|
InnateDB Gene
|
IDBG-11848 (BBS9)
|
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. Required for proper BBSome complex assembly and its ciliary localization. {ECO:0000269PubMed:17574030, ECO:0000269PubMed:22072986}.
|
Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
|
Disease Associations |
Note=A chromosomal aberration involving PTHB1 has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with OBSCN.Bardet-Biedl syndrome 9 (BBS9) [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:16380913}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain. {ECO:0000269PubMed:10221542, ECO:0000269PubMed:16380913}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated |
Total |
11
[view]
|
Protein-Protein |
11
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
6 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
|
PFAM |
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q3SYG4
|
PhosphoSite |
PhosphoSite-Q3SYG4
|
TrEMBL |
C9JRR5
|
UniProt Splice Variant |
|
Entrez Gene |
27241
|
UniGene |
Hs.372360
|
RefSeq |
|
HUGO |
HGNC:30000
|
OMIM |
607968
|
CCDS |
|
HPRD |
16262
|
IMGT |
|
EMBL |
AC006195
AC007312
AC074338
AC078833
AC087070
AF095770
AF095771
BC032715
BC103831
U85994
U85995
U85997
U87408
|
GenPept |
AAB46606
AAB47568
AAB61918
AAB61919
AAD25980
AAD25981
AAH32715
AAI03832
|
|
|