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

Gene ID: 582, updated on 17-Jun-2024

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
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Genomic context

See BBS1 in Genome Data Viewer
Location:
11q13.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66510635..66533598)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66506874..66529839)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66278106..66301069)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66243741-66244561 Neighboring gene pellino E3 ubiquitin protein ligase family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66245199-66245792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:66246731-66247298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5045 Neighboring gene DPP3 divergent transcript Neighboring gene skeletal muscle cis-regulatory module in DPP3 intron Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66258390-66259340 Neighboring gene dipeptidyl peptidase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5046 Neighboring gene zinc finger DHHC-type containing 24 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66298267-66298846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66298847-66299424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66307071-66307841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5049 Neighboring gene Sharpr-MPRA regulatory region 1034 Neighboring gene actinin alpha 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66332233-66332732 Neighboring gene cathepsin F

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: DPP3

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 cellular lipid metabolic process 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 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

Preferred Names
Bardet-Biedl syndrome 1 protein
Names
BBS2-like protein 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_009093.1 RefSeqGene

    Range
    4988..27951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024649.5NP_078925.3  Bardet-Biedl syndrome 1 protein

    See identical proteins and their annotated locations for NP_078925.3

    Status: REVIEWED

    Source sequence(s)
    AP002748
    Consensus CDS
    CCDS8142.1
    UniProtKB/Swiss-Prot
    Q32MM9, Q32MN0, Q8NFJ9, Q96SN4
    UniProtKB/TrEMBL
    E7EQH1
    Related
    ENSP00000317469.7, ENST00000318312.12
    Conserved Domains (1) summary
    pfam14779
    Location:23276
    BBS1; Ciliary BBSome complex subunit 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    66510635..66533598
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    66506874..66529839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)