BBS1 (Bardet-Biedl syndrome 1)

2014-11-01  

Identity

HGNC
BBS1
LOCATION
11q13.2
LOCUSID
582
ALIAS
BBS2L2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174483ENST00000318312Q8NFJ9
ENSG00000174483ENST00000393994Q8NFJ9
ENSG00000174483ENST00000455748E7EQH1
ENSG00000174483ENST00000524458E9PQK2
ENSG00000174483ENST00000524705E9PPR3
ENSG00000174483ENST00000525809E9PMB7
ENSG00000174483ENST00000526035E9PJ28
ENSG00000174483ENST00000526760E9PJ28
ENSG00000174483ENST00000526815E9PQD9
ENSG00000174483ENST00000527251E9PQK2
ENSG00000174483ENST00000532908E9PJ28
ENSG00000174483ENST00000533557E9PJ28
ENSG00000174483ENST00000533644E9PR55
ENSG00000174483ENST00000630659E9PJ28

Expression (GTEx)

0
10
20
30
40
50
60
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

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
BBSome-mediated cargo-targeting to ciliumREACTOMER-HSA-5620922

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
356959662023Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.1
376122612023Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island.0
379983972023De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1.0
356959662023Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.1
376122612023Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island.0
379983972023De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1.0
339109322022BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.11
339109322022BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.11
331693702021A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.16
335728602021BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.8
336307622021Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.21
344238352021The Bardet-Biedl syndrome complex component BBS1 controls T cell polarity during immune synapse assembly.9
349407822021Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.7
331693702021A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.16
335728602021BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.8

Citation

Dessen P

BBS1 (Bardet-Biedl syndrome 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60714/deep-insight-explorer/js/lib/all.min.js