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    BBS10 Bardet-Biedl syndrome 10 [ Homo sapiens (human) ]

    Gene ID: 79738, updated on 26-Jul-2021

    Summary

    Official Symbol
    BBS10provided by HGNC
    Official Full Name
    Bardet-Biedl syndrome 10provided by HGNC
    Primary source
    HGNC:HGNC:26291
    See related
    Ensembl:ENSG00000179941 MIM:610148
    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
    C12orf58
    Summary
    This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
    Expression
    Ubiquitous expression in fat (RPKM 8.6), adrenal (RPKM 7.7) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See BBS10 in Genome Data Viewer
    Location:
    12q21.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (76344474..76348415, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (76738254..76742195, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene lncRNA osteogenesis associated Neighboring gene RN7SK pseudogene 172 Neighboring gene oxysterol binding protein like 8 Neighboring gene uncharacterized LOC105369850 Neighboring gene ribosomal protein L7a pseudogene 9

    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

    Homology

    Clone Names

    • FLJ23560

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 10 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_016357.1 RefSeqGene

      Range
      5028..8969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1255

    mRNA and Protein(s)

    1. NM_024685.4NP_078961.3  Bardet-Biedl syndrome 10 protein

      See identical proteins and their annotated locations for NP_078961.3

      Status: REVIEWED

      Source sequence(s)
      AI673014, BC013795, BC026355, CA414269, DR155669
      Consensus CDS
      CCDS9014.2
      UniProtKB/Swiss-Prot
      Q8TAM1
      Related
      ENSP00000497413.1, ENST00000650064.2
      Conserved Domains (1) summary
      cl02777
      Location:11426
      chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      76344474..76348415 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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