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Bbs12 Bardet-Biedl syndrome 12 (human) [ Mus musculus (house mouse) ]

Gene ID: 241950, updated on 8-May-2016
Official Symbol
Bbs12provided by MGI
Official Full Name
Bardet-Biedl syndrome 12 (human)provided by MGI
Primary source
MGI:MGI:2686651
See related
Ensembl:ENSMUSG00000051444 Vega:OTTMUSG00000007355
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gm407; Gm721; Gm1805
Orthologs
Location:
3; 3 B
Exon count:
4
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 3 NC_000069.6 (37312547..37321450)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (37211476..37220372)

Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 36168 Neighboring gene interleukin 21 Neighboring gene 28S ribosomal protein S33, mitochondrial pseudogene Neighboring gene centrin 4 Neighboring gene fibroblast growth factor 2, opposite strand Neighboring gene fibroblast growth factor 2 Neighboring gene nudix (nucleoside diphosphate linked moiety X)-type motif 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Homology

Clone Names

  • MGC102209

Gene Ontology Provided by MGI

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
chaperone-mediated protein complex assembly ISO
Inferred from Sequence Orthology
more info
 
eating behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of fat cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of fat cell differentiation ISO
Inferred from Sequence Orthology
more info
 
photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell projection IEA
Inferred from Electronic Annotation
more info
 
cilium IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
Bardet-Biedl syndrome 12 protein homolog
Names
DN-452A22.3

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.

mRNA and Protein(s)

  1. NM_001008502.2NP_001008502.2  Bardet-Biedl syndrome 12 protein homolog isoform 1

    See identical proteins and their annotated locations for NP_001008502.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL691478, BC085509
    Consensus CDS
    CCDS38417.1
    UniProtKB/Swiss-Prot
    Q5SUD9
    Related
    ENSMUSP00000052179, OTTMUSP00000051346, ENSMUST00000057975, OTTMUST00000017069
    Conserved Domains (1) summary
    cl02777
    Location:370548
    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_001255992.1NP_001242921.1  Bardet-Biedl syndrome 12 protein homolog isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate splice site, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AL691478
    Consensus CDS
    CCDS57209.1
    UniProtKB/TrEMBL
    Z4YKQ3
    Related
    ENSMUSP00000103756, OTTMUSP00000007843, ENSMUST00000108121, OTTMUST00000017007
    Conserved Domains (1) summary
    cl02777
    Location:255433
    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: Mus musculus Annotation Release 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000069.6 Reference GRCm38.p3 C57BL/6J

    Range
    37312547..37321450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011249683.1XP_011247985.1  

    See identical proteins and their annotated locations for XP_011247985.1

    UniProtKB/Swiss-Prot
    Q5SUD9
    Conserved Domains (1) summary
    cl02777
    Location:370548
    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_006535480.1XP_006535543.1  

    See identical proteins and their annotated locations for XP_006535543.1

    UniProtKB/Swiss-Prot
    Q5SUD9
    Conserved Domains (1) summary
    cl02777
    Location:370548
    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 ...
  3. XM_011249682.1XP_011247984.1  

    See identical proteins and their annotated locations for XP_011247984.1

    UniProtKB/Swiss-Prot
    Q5SUD9
    Conserved Domains (1) summary
    cl02777
    Location:370548
    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 ...

Reference GRCm38.p3 129S1/SvImJ

Genomic

  1. NT_039248.1 Reference GRCm38.p3 129S1/SvImJ

    Range
    209117..218061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006502591.2XP_006502654.1  

    See identical proteins and their annotated locations for XP_006502654.1

    Conserved Domains (1) summary
    cl02777
    Location:370548
    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_006502592.2XP_006502655.1  

    See identical proteins and their annotated locations for XP_006502655.1

    Conserved Domains (1) summary
    cl02777
    Location:370548
    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 ...
  3. XM_011251461.1XP_011249763.1  

    See identical proteins and their annotated locations for XP_011249763.1

    Conserved Domains (1) summary
    cl02777
    Location:370548
    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 ...

Reference GRCm38.p3 NOD/MrkTac

Genomic

  1. NT_039252.1 Reference GRCm38.p3 NOD/MrkTac

    Range
    249994..258954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006502598.2XP_006502661.1  

    See identical proteins and their annotated locations for XP_006502661.1

    Conserved Domains (1) summary
    cl02777
    Location:370548
    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_006502599.2XP_006502662.1  

    See identical proteins and their annotated locations for XP_006502662.1

    Conserved Domains (1) summary
    cl02777
    Location:370548
    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 ...
  3. XM_011251136.1XP_011249438.1  

    See identical proteins and their annotated locations for XP_011249438.1

    Conserved Domains (1) summary
    cl02777
    Location:370548
    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 ...

Alternate Mm_Celera

Genomic

  1. AC_000025.1 Alternate Mm_Celera

    Range
    37199189..37201589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)