Homo sapiens Protein: BBS1
Summary
InnateDB Protein IDBP-242447.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BBS1
Protein Name Bardet-Biedl syndrome 1
Synonyms BBS2L2;
Species Homo sapiens
Ensembl Protein ENSP00000377563
InnateDB Gene IDBG-59135 (BBS1)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 34 [view]
Protein-Protein 34 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0005113 patched binding
GO:0005119 smoothened binding
GO:0005515 protein binding
Biological Process
GO:0001895 retina homeostasis
GO:0007601 visual perception
GO:0035058 nonmotile primary cilium assembly
GO:0042384 cilium assembly
GO:0043001 Golgi to plasma membrane protein transport
GO:0045494 photoreceptor cell maintenance
GO:0050896 response to stimulus
Cellular Component
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0034464 BBSome
GO:0060170 ciliary membrane
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8NFJ9
PhosphoSite PhosphoSite-Q8NFJ9
TrEMBL E9PQD9
UniProt Splice Variant
Entrez Gene 582
UniGene Hs.733750
RefSeq
HUGO HGNC:966
OMIM 209901
CCDS
HPRD 06012
IMGT
EMBL AF503941 AK027645 AP002748 BC109064 BC109065
GenPept AAI09065 AAI09066 AAM92770 BAB55261