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    Bbs4 Bardet-Biedl syndrome 4 (human) [ Mus musculus (house mouse) ]

    Gene ID: 102774, updated on 6-Jul-2021

    Summary

    Official Symbol
    Bbs4provided by MGI
    Official Full Name
    Bardet-Biedl syndrome 4 (human)provided by MGI
    Primary source
    MGI:MGI:2143311
    See related
    Ensembl:ENSMUSG00000025235
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    AW537059; AW742241; D9Ertd464; D9Ertd464e
    Expression
    Broad expression in CNS E18 (RPKM 9.8), cerebellum adult (RPKM 9.2) and 21 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Bbs4 in Genome Data Viewer
    Location:
    9 B; 9 32.01 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (59229249..59260791, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (59321966..59353508, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (59169773..59201315, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39345 Neighboring gene ADP-dependent glucokinase Neighboring gene ariadne RBR E3 ubiquitin protein ligase 1 Neighboring gene ribosomal protein S11, pseudogene 1 Neighboring gene predicted gene, 20199

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables alpha-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables beta-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables dynactin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within adult behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within brain morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in centrosome cycle ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within dendrite development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within face development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within fat cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within fat pad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hippocampus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within leptin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in maintenance of protein location in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in microtubule anchoring at centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic cytokinesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of actin filament polymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of appetite by leptin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of systemic arterial blood pressure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuron migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within photoreceptor cell maintenance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within photoreceptor cell outer segment organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to cilium ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to photoreceptor outer segment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cilium beat frequency involved in ciliary motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cytokinesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of lipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to leptin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retina homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within retinal rod cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within sensory perception of smell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within social behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within striatum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ventricular system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of BBSome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of BBSome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in ciliary membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ciliary transition zone ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in motile cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in motile cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in non-motile cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in pericentriolar material ISO
    Inferred from Sequence Orthology
    more info
     
    located_in photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 4 protein homolog
    Names
    Bardet-Biedl syndrome 4 homolog

    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.

    mRNA and Protein(s)

    1. NM_001359558.1NP_001346487.1  Bardet-Biedl syndrome 4 protein homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC134894, CT025587
      Conserved Domains (2) summary
      sd00006
      Location:209237
      TPR; TPR repeat [structural motif]
      cl26002
      Location:77372
      TPR_11; TPR repeat
    2. NM_175325.3NP_780534.1  Bardet-Biedl syndrome 4 protein homolog isoform 1

      See identical proteins and their annotated locations for NP_780534.1

      Status: VALIDATED

      Source sequence(s)
      AC134894, AK134734, BC055797, CT025587
      Consensus CDS
      CCDS40658.1
      UniProtKB/Swiss-Prot
      Q8C1Z7
      UniProtKB/TrEMBL
      A6H669
      Related
      ENSMUSP00000026265.7, ENSMUST00000026265.8
      Conserved Domains (4) summary
      smart00028
      Location:170201
      TPR; Tetratricopeptide repeats
      sd00006
      Location:101129
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:101166
      TPR_11; TPR repeat
      pfam13432
      Location:342400
      TPR_16; Tetratricopeptide repeat

    RNA

    1. NR_153195.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC134894, CT025587

    RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      59229249..59260791 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154545.1XP_036010438.1  Bardet-Biedl syndrome 4 protein homolog isoform X2

      Conserved Domains (2) summary
      COG5010
      Location:56147
      TadD; Flp pilus assembly protein TadD, contains TPR repeats [Intracellular trafficking, secretion, and vesicular transport, Extracellular structures]
      sd00006
      Location:2654
      TPR; TPR repeat [structural motif]
    2. XM_036154544.1XP_036010437.1  Bardet-Biedl syndrome 4 protein homolog isoform X1

      Conserved Domains (2) summary
      TIGR02917
      Location:1261
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:98126
      TPR; TPR repeat [structural motif]
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