BBS1 (Bardet-Biedl syndrome 1)

2014-11-01  

Identity

HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
BBS2L2
FUSION GENES

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

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

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/favicon/js/lib/popper.js