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

Gene ID: 166379, updated on 3-Jun-2018
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; Vega:OTTHUMG00000133070
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
See BBS12 in Genome Data Viewer
Location:
4q27
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 FGF2 promoter region Neighboring gene ribosomal protein L34 pseudogene 12 Neighboring gene fibroblast growth factor 2

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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
 
Preferred Names
Bardet-Biedl syndrome 12 protein
Names
truncated Bardet-Biedl syndrome 12 protein

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_152618.2NP_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, OTTHUMP00000164085, ENST00000314218.7, OTTHUMT00000256710
    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.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 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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