BBS1 (Bardet-Biedl syndrome 1)

2014-11-01 Affiliation

Identity

HGNC

BBS1

LOCATION

11q13.2

LOCUSID

582

ALIAS

BBS2L2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 582
MIM: 209901
HGNC: 966
Ensembl: ENSG00000174483

Variants:

dbSNP: 582
ClinVar: 582
TCGA: ENSG00000174483
COSMIC: BBS1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000174483	ENST00000318312	Q8NFJ9
ENSG00000174483	ENST00000393994	Q8NFJ9
ENSG00000174483	ENST00000455748	E7EQH1
ENSG00000174483	ENST00000524458	E9PQK2
ENSG00000174483	ENST00000524705	E9PPR3
ENSG00000174483	ENST00000525809	E9PMB7
ENSG00000174483	ENST00000526035	E9PJ28
ENSG00000174483	ENST00000526760	E9PJ28
ENSG00000174483	ENST00000526815	E9PQD9
ENSG00000174483	ENST00000527251	E9PQK2
ENSG00000174483	ENST00000532908	E9PJ28
ENSG00000174483	ENST00000533557	E9PJ28
ENSG00000174483	ENST00000533644	E9PR55
ENSG00000174483	ENST00000630659	E9PJ28

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Cargo trafficking to the periciliary membrane	REACTOME	R-HSA-5620920
BBSome-mediated cargo-targeting to cilium	REACTOME	R-HSA-5620922

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
12677556	2003	Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.	75
12567324	2003	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.	68
12837689	2003	Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.	64
24691443	2014	Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.	38
24681783	2014	Basal body proteins regulate Notch signaling through endosomal trafficking.	36
23143442	2012	BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.	34
24939912	2014	Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.	30
21520335	2011	U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.	22
17065520	2006	Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.	20
12524598	2003	Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).	19

Citation

Dessen P

BBS1 (Bardet-Biedl syndrome 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60714/bbs1