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    BBS4 Bardet-Biedl syndrome 4 [ Homo sapiens (human) ]

    Gene ID: 585, updated on 6-May-2021

    Summary

    Official Symbol
    BBS4provided by HGNC
    Official Full Name
    Bardet-Biedl syndrome 4provided by HGNC
    Primary source
    HGNC:HGNC:969
    See related
    Ensembl:ENSG00000140463 MIM:600374
    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
    Summary
    This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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 has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in testis (RPKM 12.7), prostate (RPKM 9.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See BBS4 in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210226 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (72686204..72738476)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72978548..73030814)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268145 Neighboring gene golgin A6 family member B Neighboring gene RNA, 7SL, cytoplasmic 853, pseudogene Neighboring gene HIG1 hypoxia inducible domain family member 2B Neighboring gene ADP dependent glucokinase Neighboring gene ADPGK antisense RNA 1 Neighboring gene uncharacterized LOC107984801

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dynactin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein-macromolecule adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    adult behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    brain morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    centrosome cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cerebral cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    dendrite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hippocampus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    maintenance of protein location in nucleus IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    melanosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    microtubule anchoring at centrosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    microtubule cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitotic cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of appetite by leptin-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neural tube closure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    non-motile cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    photoreceptor cell maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to centrosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to organelle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cilium beat frequency involved in ciliary motility ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of lipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retina homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retinal rod cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sensory perception of smell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sensory processing TAS
    Traceable Author Statement
    more info
    PubMed 
    spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    striatum development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    BBSome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    non-motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    pericentriolar material IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 4 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_009416.2 RefSeqGene

      Range
      4995..57292
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001252678.2NP_001239607.1  Bardet-Biedl syndrome 4 protein isoform 2

      See identical proteins and their annotated locations for NP_001239607.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC009712
      Consensus CDS
      CCDS58377.1
      UniProtKB/Swiss-Prot
      Q96RK4
      Related
      ENSP00000378631.3, ENST00000395205.6
      Conserved Domains (2) summary
      sd00006
      Location:98126
      TPR; TPR repeat [structural motif]
      cl26002
      Location:1221
      TPR_11; TPR repeat
    2. NM_001320665.2NP_001307594.1  Bardet-Biedl syndrome 4 protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an exon in the 3' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC009712
      UniProtKB/Swiss-Prot
      Q96RK4
      Conserved Domains (3) summary
      smart00028
      Location:170201
      TPR; Tetratricopeptide repeats
      COG0457
      Location:46321
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:101129
      TPR; TPR repeat [structural motif]
    3. NM_033028.5NP_149017.2  Bardet-Biedl syndrome 4 protein isoform 1

      See identical proteins and their annotated locations for NP_149017.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC009712
      Consensus CDS
      CCDS10246.1
      UniProtKB/Swiss-Prot
      Q96RK4
      UniProtKB/TrEMBL
      A0A0S2Z3A9
      Related
      ENSP00000268057.4, ENST00000268057.9
      Conserved Domains (2) summary
      sd00006
      Location:101129
      TPR; TPR repeat [structural motif]
      cl26002
      Location:18400
      TPR_11; TPR repeat

    RNA

    1. NR_045565.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC009712
    2. NR_045566.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC009712

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      72686204..72738476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521849.1XP_011520151.1  Bardet-Biedl syndrome 4 protein isoform X2

      See identical proteins and their annotated locations for XP_011520151.1

      UniProtKB/Swiss-Prot
      Q96RK4
      Conserved Domains (2) summary
      sd00006
      Location:98126
      TPR; TPR repeat [structural motif]
      cl26002
      Location:1221
      TPR_11; TPR repeat
    2. XM_017022452.1XP_016877941.1  Bardet-Biedl syndrome 4 protein isoform X2

      UniProtKB/Swiss-Prot
      Q96RK4
      Conserved Domains (2) summary
      sd00006
      Location:98126
      TPR; TPR repeat [structural motif]
      cl26002
      Location:1221
      TPR_11; TPR repeat
    3. XM_011521848.1XP_011520150.1  Bardet-Biedl syndrome 4 protein isoform X2

      See identical proteins and their annotated locations for XP_011520150.1

      UniProtKB/Swiss-Prot
      Q96RK4
      Conserved Domains (2) summary
      sd00006
      Location:98126
      TPR; TPR repeat [structural motif]
      cl26002
      Location:1221
      TPR_11; TPR repeat
    4. XM_011521851.1XP_011520153.1  Bardet-Biedl syndrome 4 protein isoform X3

      Conserved Domains (3) summary
      sd00006
      Location:2654
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:2891
      TPR_11; TPR repeat
      pfam13432
      Location:98156
      TPR_16; Tetratricopeptide repeat
    5. XM_017022450.1XP_016877939.1  Bardet-Biedl syndrome 4 protein isoform X1

    6. XM_017022454.1XP_016877943.1  Bardet-Biedl syndrome 4 protein isoform X2

      UniProtKB/Swiss-Prot
      Q96RK4
      Conserved Domains (2) summary
      sd00006
      Location:98126
      TPR; TPR repeat [structural motif]
      cl26002
      Location:1221
      TPR_11; TPR repeat
    7. XM_017022453.1XP_016877942.1  Bardet-Biedl syndrome 4 protein isoform X2

      UniProtKB/Swiss-Prot
      Q96RK4
      Conserved Domains (2) summary
      sd00006
      Location:98126
      TPR; TPR repeat [structural motif]
      cl26002
      Location:1221
      TPR_11; TPR repeat
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