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BBS7

GENERAL INFORMATION

Gene name

 BBS7

Gene description

 Bardet-Biedl syndrome 7

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Mixed

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic expression in several tissues. Membranous expression in ciliated cells of fallopian tube and respiratory epithelia.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Presumed off target binding observed and disregarded. Antibody staining in cells/structures not annotated, view images.

Reliability score

 Approved based on 1 antibody.
HPA044592
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA044592

GENE INFORMATION

Gene name

 BBS7 (HGNC Symbol)

Synonyms

 BBS2L1, FLJ10715

Description

 Bardet-Biedl syndrome 7 (HGNC Symbol)

Entrez gene summary

 This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. 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, Oct 2014]

Chromosome

 4

Cytoband

 q27

Chromosome location (bp)

 121824440 - 121870497

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000138686 (version 83.38)

Entrez gene

 55212

UniProt

 Q8IWZ6 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8IWZ6

Antibodypedia

 BBS7 antibodies

PROTEIN BROWSER
BBS7-001
BBS7-003
BBS7-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BBS7-001
ENSP00000264499
ENST00000264499
Q8IWZ6 [Direct mapping]
Bardet-Biedl syndrome 7 protein
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001103 [RNA polymerase II repressing transcription factor binding]
GO:0001654 [eye development]
GO:0001750 [photoreceptor outer segment]
GO:0001947 [heart looping]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0005930 [axoneme]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006996 [organelle organization]
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:0016020 [membrane]
GO:0032402 [melanosome transport]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0036064 [ciliary basal body]
GO:0042384 [cilium assembly]
GO:0045444 [fat cell differentiation]
GO:0046907 [intracellular transport]
GO:0048546 [digestive tract morphogenesis]
GO:0051877 [pigment granule aggregation in cell center]
GO:0060021 [palate development]
GO:0060170 [ciliary membrane]
GO:0060173 [limb development]
GO:0060271 [cilium morphogenesis]
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 715 aa
80.4 kDa 		No 0
BBS7-003
ENSP00000423626
ENST00000506636
Q8IWZ6 [Direct mapping]
Bardet-Biedl syndrome 7 protein
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001103 [RNA polymerase II repressing transcription factor binding]
GO:0001947 [heart looping]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0005930 [axoneme]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006996 [organelle organization]
GO:0007368 [determination of left/right symmetry]
GO:0007601 [visual perception]
GO:0008104 [protein localization]
GO:0015031 [protein transport]
GO:0016020 [membrane]
GO:0032402 [melanosome transport]
GO:0032436 [positive regulation of proteasomal ubiquitin-dependent protein catabolic process]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0036064 [ciliary basal body]
GO:0042384 [cilium assembly]
GO:0045444 [fat cell differentiation]
GO:0046907 [intracellular transport]
GO:0048546 [digestive tract morphogenesis]
GO:0051877 [pigment granule aggregation in cell center]
GO:0060170 [ciliary membrane]
GO:0060271 [cilium morphogenesis]
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 672 aa
75.4 kDa 		No 0
BBS7-007
ENSP00000423250
ENST00000507814
H0Y973 [Direct mapping]
Bardet-Biedl syndrome 7 protein
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005930 [axoneme]
GO:0008104 [protein localization]
GO:0016020 [membrane]
GO:0036064 [ciliary basal body]
GO:0042384 [cilium assembly]
GO:0046907 [intracellular transport]
Show all
 138 aa
16.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.