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BBS5

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GENERAL INFORMATION

Gene name

 BBS5

Gene description

 Bardet-Biedl syndrome 5

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Mixed

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

Gene name

 BBS5 (HGNC Symbol)

Synonyms

 DKFZp762I194

Description

 Bardet-Biedl syndrome 5 (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]

Chromosome

 2

Cytoband

 q31.1

Chromosome location (bp)

 169479178 - 169506655

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000163093 (version 83.38)

Entrez gene

 129880

UniProt

 Q8N3I7 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8N3I7

Antibodypedia

 BBS5 antibodies

PROTEIN BROWSER
BBS5-001
BBS5-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BBS5-001
ENSP00000295240
ENST00000295240
Q8N3I7 [Direct mapping]
Bardet-Biedl syndrome 5 protein
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0001103 [RNA polymerase II repressing transcription factor binding]
GO:0001947 [heart looping]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005829 [cytosol]
GO:0005930 [axoneme]
GO:0006996 [organelle organization]
GO:0007601 [visual perception]
GO:0015031 [protein transport]
GO:0032266 [phosphatidylinositol-3-phosphate binding]
GO:0032402 [melanosome transport]
GO:0034464 [BBSome]
GO:0036064 [ciliary basal body]
GO:0042384 [cilium assembly]
GO:0044458 [motile cilium assembly]
GO:0046907 [intracellular transport]
GO:0050896 [response to stimulus]
GO:0060170 [ciliary membrane]
Show all
 341 aa
38.8 kDa 		No 0
BBS5-002
ENSP00000376431
ENST00000392663
Q8N3I7 [Direct mapping]
Bardet-Biedl syndrome 5 protein
Show all
Predicted intracellular proteins
Disease related genes
Show all
GO:0001103 [RNA polymerase II repressing transcription factor binding]
GO:0001947 [heart looping]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005829 [cytosol]
GO:0006996 [organelle organization]
GO:0007601 [visual perception]
GO:0015031 [protein transport]
GO:0032266 [phosphatidylinositol-3-phosphate binding]
GO:0032402 [melanosome transport]
GO:0034464 [BBSome]
GO:0036064 [ciliary basal body]
GO:0042384 [cilium assembly]
GO:0044458 [motile cilium assembly]
GO:0046907 [intracellular transport]
GO:0050896 [response to stimulus]
GO:0060170 [ciliary membrane]
Show all
 320 aa
36.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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