BBS1 Bardet-Biedl syndrome 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BBS1provided by HGNC
Official Full Name: Bardet-Biedl syndrome 1provided by HGNC
Primary source: HGNC:HGNC:966
See related: Ensembl:ENSG00000174483 MIM:209901; AllianceGenome:HGNC:966
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BBS2L2
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]
Expression: Ubiquitous expression in thyroid (RPKM 19.8), kidney (RPKM 18.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (66510635..66533598)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (66506874..66529839)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (66278106..66301069)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1.
Title: De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1.
Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island.
Title: Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island.
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
Title: Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
Title: BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Title: Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Title: A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
The Bardet-Biedl syndrome complex component BBS1 controls T cell polarity during immune synapse assembly.
Title: The Bardet-Biedl syndrome complex component BBS1 controls T cell polarity during immune synapse assembly.
Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.
Title: Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.
Title: BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.
The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells.
Title: The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bardet-Biedl syndrome MedGen: C0752166 GeneReviews: Bardet-Biedl Syndrome Overview	not available
Bardet-Biedl syndrome 1 MedGen: C2936862 OMIM: 209900 GeneReviews: Bardet-Biedl Syndrome Overview	not available

EBI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-30733 (e-PCR)
- UniSTS:24961

RH102931 (e-PCR)
- UniSTS:97265

Clone Names

FLJ23590, MGC51114, MGC126183, MGC126184

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables patched binding	IBA Inferred from Biological aspect of Ancestor more info
enables patched binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphoprotein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables smoothened binding	IBA Inferred from Biological aspect of Ancestor more info
enables smoothened binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Golgi to plasma membrane protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adult behavior	IEA Inferred from Electronic Annotation more info
involved_in brain morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in dendrite development	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in fertilization	IEA Inferred from Electronic Annotation more info
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
involved_in hormone metabolic process	IEA Inferred from Electronic Annotation more info
involved_in microtubule cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in neural precursor cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in olfactory behavior	IEA Inferred from Electronic Annotation more info
involved_in photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in protein localization to cilium	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cilium beat frequency involved in ciliary motility	IEA Inferred from Electronic Annotation more info
involved_in response to endoplasmic reticulum stress	IEA Inferred from Electronic Annotation more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of smell	IEA Inferred from Electronic Annotation more info
involved_in striatum development	IEA Inferred from Electronic Annotation more info
involved_in ventricular system development	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of BBSome	IBA Inferred from Biological aspect of Ancestor more info
part_of BBSome	IDA Inferred from Direct Assay more info	PubMed
part_of BBSome	IPI Inferred from Physical Interaction more info	PubMed
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	IEA Inferred from Electronic Annotation more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: BBSome complex member BBS1

Names: BBS2-like protein 2; bardet-Biedl syndrome 1 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.