Expression of BBS1 in cancer - Summary - The Human Protein Atlas

CANCER ATLAS

Gene description

Bardet-Biedl syndrome 1

Protein class

Disease related genes, Predicted intracellular proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA058283

GENE INFORMATION
Gene name	BBS1 (HGNC Symbol)
Synonyms	FLJ23590
Description	Bardet-Biedl syndrome 1 (HGNC Symbol)
Entrez gene summary	Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
Chromosome	11
Cytoband	q13.2
Chromosome location (bp)	66510606 - 66533627
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000174483 (version 83.38)
Entrez gene	582
UniProt	Q8NFJ9 (UniProt - Evidence at protein level)
neXtProt	NX_Q8NFJ9
Antibodypedia	BBS1 antibodies

PROTEIN BROWSER

BBS1-001	BBS1-006	BBS1-009	BBS1-013	BBS1-014	BBS1-019	BBS1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
BBS1-001 ENSP00000317469 ENST00000318312	Q8NFJ9 [Direct mapping] Bardet-Biedl syndrome 1 protein Show all	SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0001103 [RNA polymerase II repressing transcription factor binding] GO:0001895 [retina homeostasis] GO:0005113 [patched binding] GO:0005119 [smoothened binding] GO:0005515 [protein binding] GO:0005813 [centrosome] GO:0005829 [cytosol] GO:0005930 [axoneme] GO:0006996 [organelle organization] GO:0007601 [visual perception] GO:0034464 [BBSome] GO:0035058 [nonmotile primary cilium assembly] GO:0036064 [ciliary basal body] GO:0042384 [cilium assembly] GO:0043001 [Golgi to plasma membrane protein transport] GO:0045494 [photoreceptor cell maintenance] GO:0050896 [response to stimulus] GO:0060170 [ciliary membrane] GO:0061512 [protein localization to cilium] Show all	593 aa 65.1 kDa	No	0
BBS1-006 ENSP00000405764 ENST00000455748	E7EQH1 [Direct mapping] Bardet-Biedl syndrome 1 protein Show all	SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Show all	GO:0005813 [centrosome] GO:0005930 [axoneme] GO:0034464 [BBSome] GO:0035058 [nonmotile primary cilium assembly] GO:0036064 [ciliary basal body] Show all	496 aa 54.1 kDa	No	0
BBS1-009 ENSP00000377563 ENST00000393994	Q8NFJ9 [Direct mapping] Bardet-Biedl syndrome 1 protein Show all	SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Show all	GO:0001103 [RNA polymerase II repressing transcription factor binding] GO:0001895 [retina homeostasis] GO:0005113 [patched binding] GO:0005119 [smoothened binding] GO:0005515 [protein binding] GO:0005813 [centrosome] GO:0005829 [cytosol] GO:0005930 [axoneme] GO:0006996 [organelle organization] GO:0007601 [visual perception] GO:0034464 [BBSome] GO:0035058 [nonmotile primary cilium assembly] GO:0036064 [ciliary basal body] GO:0042384 [cilium assembly] GO:0043001 [Golgi to plasma membrane protein transport] GO:0045494 [photoreceptor cell maintenance] GO:0050896 [response to stimulus] GO:0060170 [ciliary membrane] GO:0061512 [protein localization to cilium] Show all	446 aa 49 kDa	No	0
BBS1-013 ENSP00000436860 ENST00000526815	E9PQD9 [Direct mapping] Bardet-Biedl syndrome 1 protein Show all	Predicted intracellular proteins Show all	GO:0005813 [centrosome] GO:0005930 [axoneme] GO:0034464 [BBSome] GO:0035058 [nonmotile primary cilium assembly] GO:0036064 [ciliary basal body] Show all	54 aa 5.6 kDa	No	0
BBS1-014 ENSP00000431187 ENST00000525809	E9PMB7 [Direct mapping] Bardet-Biedl syndrome 1 protein Show all	Predicted intracellular proteins Show all	GO:0005813 [centrosome] GO:0005930 [axoneme] GO:0034464 [BBSome] GO:0035058 [nonmotile primary cilium assembly] GO:0036064 [ciliary basal body] Show all	192 aa 21.3 kDa	No	0
BBS1-019 ENSP00000436927 ENST00000524705	E9PPR3 [Direct mapping] Bardet-Biedl syndrome 1 protein Show all	Predicted intracellular proteins Show all	GO:0005813 [centrosome] GO:0005930 [axoneme] GO:0034464 [BBSome] GO:0035058 [nonmotile primary cilium assembly] GO:0036064 [ciliary basal body] Show all	67 aa 7.8 kDa	No	0
BBS1-201 ENSP00000486455 ENST00000630659	E9PJ28 [Direct mapping] Bardet-Biedl syndrome 1 protein Show all	Predicted intracellular proteins Show all	GO:0005813 [centrosome] GO:0005930 [axoneme] GO:0036064 [ciliary basal body] Show all	85 aa 8.8 kDa	No	0