InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-36454

Bardet-Biedl syndrome 7

IDBP-476738

Bardet-Biedl syndrome 7

IDBP-474165

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

ENSMUSG00000037325

View Gene Order

ENSBTAG00000004945

Not yet available

Cross-References

SwissProt

Q8IWZ6

TrEMBL

UniProt Splice Variant

Entrez Gene

55212

UniGene

Hs.591694

RefSeq

NM_018190 NM_176824 XM_005263106

HUGO

HGNC:18758

OMIM

607590

CCDS

CCDS54799 CCDS3724

HPRD

07399

IMGT

EMBL

AC079341 AF521643 AF521644 AK001577 BC032691

GenPept

AAH32691 AAO16025 AAO16026 AAY40970 BAA91767

RNA Seq Atlas

55212