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

    Gene ID: 129880, updated on 12-Aug-2018

    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; Vega:OTTHUMG00000132207
    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

    Genomic context

    See BBS5 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (169479496..169506655)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (170335967..170363165)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 V1 pseudogene 6 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • BBSome-mediated cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
      BBSome-mediated cargo-targeting to cilium, organism-specific biosystemThe BBSome is a stable complex consisting of 7 Bardet-Biedl proteins (BBS1, 2, 4, 5, 7, 8 and 9) and BBIP10 that has roles in promoting IFT and trafficking proteins to the cilum (Blacque et al, 2004;...
    • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
      Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
    • Cilium Assembly, organism-specific biosystem (from REACTOME)
      Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

    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
    RNA polymerase II repressing transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    phosphatidylinositol-3-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol-3-phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    melanosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    motile cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    BBSome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axoneme IEA
    Inferred from Electronic Annotation
    more info
     
    centriolar satellite IEA
    Inferred from Electronic Annotation
    more info
     
    ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ciliary membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 5 protein

    NCBI Reference Sequences (RefSeq)

    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
      5001..32160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152384.2NP_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
      Q8N3I7
      UniProtKB/TrEMBL
      A0A0S2Z626
      Related
      ENSP00000295240.3, OTTHUMP00000163062, ENST00000295240.7, OTTHUMT00000255265
      Conserved Domains (1) summary
      pfam07289
      Location:7339
      BBL5; Bardet-Biedl syndrome 5 protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      169479496..169506655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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