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BBS5 Bardet-Biedl syndrome 5 [ Homo sapiens (human) ]

Gene ID: 129880, updated on 5-May-2024

Summary

Official Symbol
BBS5provided by HGNC
Official Full Name
Bardet-Biedl syndrome 5provided by HGNC
Primary source
HGNC:HGNC:970
See related
Ensembl:ENSG00000163093 MIM:603650; AllianceGenome:HGNC:970
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
Summary
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]
Expression
Broad expression in testis (RPKM 7.2), thyroid (RPKM 4.0) and 22 other tissues See more
Orthologs
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Genomic context

See BBS5 in Genome Data Viewer
Location:
2q31.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169479494..169506655)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (169956107..169983895)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (170336004..170363165)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr2:169977784-169977942 Neighboring gene NANOG hESC enhancer GRCh37_chr2:169992762-169993275 Neighboring gene UBE2V1 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 15259 Neighboring gene LDL receptor related protein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170164967-170165129 Neighboring gene MPRA-validated peak3915 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170213948-170214132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:170218895-170219528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:170219529-170220162 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170308062-170308217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16738 Neighboring gene MPRA-validated peak3917 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170393950-170394098 Neighboring gene kelch like family member 41 Neighboring gene FAST kinase domains 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:170429982-170430584

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: KLHL41

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 phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
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 heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in melanosome transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in motile cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein transport 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 
located_in axoneme IEA
Inferred from Electronic Annotation
more info
 
located_in centriolar satellite IEA
Inferred from Electronic Annotation
more info
 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in ciliary membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
Bardet-Biedl syndrome 5 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.

Genomic

  1. NG_011567.1 RefSeqGene

    Range
    4999..32160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152384.3NP_689597.1  Bardet-Biedl syndrome 5 protein

    See identical proteins and their annotated locations for NP_689597.1

    Status: REVIEWED

    Source sequence(s)
    AA043704, AC093899, AK097935, AL834305, AY604003, BC044593, BP311042, CA336791, CD245392, H09195
    Consensus CDS
    CCDS2233.1
    UniProtKB/Swiss-Prot
    D3DPC3, Q6PKN0, Q8N3I7
    UniProtKB/TrEMBL
    A0A0S2Z626
    Related
    ENSP00000295240.3, ENST00000295240.8
    Conserved Domains (1) summary
    pfam07289
    Location:7339
    BBL5; Bardet-Biedl syndrome 5 protein

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    169479494..169506655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    169956107..169983895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)