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    BBS12 Bardet-Biedl syndrome 12 [ Homo sapiens (human) ]

    Gene ID: 166379, updated on 17-Jun-2019

    Summary

    Official Symbol
    BBS12provided by HGNC
    Official Full Name
    Bardet-Biedl syndrome 12provided by HGNC
    Primary source
    HGNC:HGNC:26648
    See related
    Ensembl:ENSG00000181004 MIM:610683
    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
    C4orf24
    Summary
    The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
    Expression
    Broad expression in thyroid (RPKM 5.9), testis (RPKM 4.6) and 22 other tissues See more
    Orthologs

    Genomic context

    See BBS12 in Genome Data Viewer
    Location:
    4q27
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (122700437..122744943)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (123653857..123666098)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene interleukin 2 Neighboring gene IL21 antisense RNA 1 Neighboring gene interleukin 21 Neighboring gene DNA damage regulated autophagy modulator 1 pseudogene Neighboring gene centrin 4, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2230 Neighboring gene ribosomal protein L34 pseudogene 12

    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 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

    Homology

    Clone Names

    • FLJ35630, FLJ41559

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    chaperone-mediated protein complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    intraciliary transport IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cilium IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 12 protein
    Names
    truncated Bardet-Biedl syndrome 12 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_021203.1 RefSeqGene

      Range
      5001..17242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178007.1NP_001171478.1  Bardet-Biedl syndrome 12 protein

      See identical proteins and their annotated locations for NP_001171478.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.
      Source sequence(s)
      AC053545, AK123553, BX538148, CD359068
      Consensus CDS
      CCDS3728.1
      UniProtKB/Swiss-Prot
      Q6ZW61
      Related
      ENSP00000438273.1, ENST00000542236.5
      Conserved Domains (2) summary
      pfam00118
      Location:284564
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:22130
      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 ...
    2. NM_152618.3NP_689831.2  Bardet-Biedl syndrome 12 protein

      See identical proteins and their annotated locations for NP_689831.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.
      Source sequence(s)
      AK092949, AK123553, BX538148
      Consensus CDS
      CCDS3728.1
      UniProtKB/Swiss-Prot
      Q6ZW61
      Related
      ENSP00000319062.3, ENST00000314218.8
      Conserved Domains (2) summary
      pfam00118
      Location:284564
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:22130
      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 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.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      122700437..122744943
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531680.2XP_011529982.1  Bardet-Biedl syndrome 12 protein isoform X1

      See identical proteins and their annotated locations for XP_011529982.1

      UniProtKB/Swiss-Prot
      Q6ZW61
      Conserved Domains (2) summary
      pfam00118
      Location:284564
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:22130
      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 ...
    2. XM_017007831.1XP_016863320.1  Bardet-Biedl syndrome 12 protein isoform X1

      UniProtKB/Swiss-Prot
      Q6ZW61
      Conserved Domains (2) summary
      pfam00118
      Location:284564
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:22130
      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 ...
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