Expression of BBS5 in cancer - Summary - The Human Protein Atlas

CANCER ATLAS

Gene description

Bardet-Biedl syndrome 5

Protein class

Disease related genes, Predicted intracellular proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Testis cancer

STAINING SUMMARY

HPA046125

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