Homo sapiens Gene: BBS7
Summary
InnateDB Gene IDBG-36452.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BBS7
Gene Name Bardet-Biedl syndrome 7
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000138686
Encoded Proteins
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 7
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Feb 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:121824440-121870497
Strand Reverse strand
Band q27
Transcripts
ENST00000264499 ENSP00000264499
ENST00000507814 ENSP00000423250
ENST00000506636 ENSP00000423626
ENST00000508536
ENST00000505692
ENST00000502444
Interactions
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]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0005515 protein binding
Biological Process
GO:0001654 eye development
GO:0001947 heart looping
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007224 smoothened signaling pathway
GO:0007368 determination of left/right symmetry
GO:0007420 brain development
GO:0007507 heart development
GO:0007601 visual perception
GO:0008104 protein localization
GO:0015031 protein transport
GO:0032402 melanosome transport
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0035058 nonmotile primary cilium assembly
GO:0045444 fat cell differentiation
GO:0048546 digestive tract morphogenesis
GO:0051877 pigment granule aggregation in cell center
GO:0060021 palate development
GO:0060173 limb development
GO:0060271 cilium morphogenesis
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005930 axoneme
GO:0034464 BBSome
GO:0036064 ciliary basal body
GO:0060170 ciliary membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q8IWZ6
TrEMBL H0Y973
UniProt Splice Variant
Entrez Gene 55212
UniGene Hs.591694
RefSeq NM_176824 XM_005263106 NM_018190
HUGO HGNC:18758
OMIM 607590
CCDS CCDS3724 CCDS54799
HPRD 07399
IMGT
EMBL AC079341 AF521643 AF521644 AK001577 BC032691
GenPept AAH32691 AAO16025 AAO16026 AAY40970 BAA91767
RNA Seq Atlas 55212