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

    Gene ID: 129880, updated on 5-Aug-2022

    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
    NEW
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    Genomic context

    See BBS5 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169479494..169506655)
    110 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 UBE2V1 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 15259 Neighboring gene LDL receptor related protein 2 Neighboring gene kelch like family member 41 Neighboring gene FAST kinase domains 1

    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

    Homology

    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
    PubMed 
    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
    PubMed 
    involved_in cilium assembly IC
    Inferred by Curator
    more info
    PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    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
    PubMed 
    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 response to stimulus 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
    PubMed 
    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
    PubMed 
    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)

    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_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
      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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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)