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

Gene ID: 585, updated on 17-Jun-2019

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

Genomic context

See BBS4 in Genome Data Viewer
Location:
15q24.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (72686179..72738476)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72978520..73030817)

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 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
microtubule motor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
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
 
face development IEA
Inferred from Electronic Annotation
more info
 
fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
fat pad development IEA
Inferred from Electronic Annotation
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 GTPase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of appetite by leptin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
negative regulation of systemic arterial blood pressure IEA
Inferred from Electronic Annotation
more info
 
neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron migration IEA
Inferred from Electronic Annotation
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
 
photoreceptor cell outer segment organization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
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 localization to photoreceptor outer segment IEA
Inferred from Electronic Annotation
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
 
regulation of non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of stress fiber assembly IEA
Inferred from Electronic Annotation
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 
social behavior IEA
Inferred from Electronic Annotation
more info
 
spermatid development ISS
Inferred from Sequence or Structural Similarity
more info
 
striatum development ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular system development IEA
Inferred from Electronic Annotation
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 
photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
 
photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
Bardet-Biedl syndrome 4 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_009416.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001252678.1NP_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)
    AK303706, BM664845, BX647855, DC372967
    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_001320665.1NP_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, AK303706, BE727117, BM664845, DB269838, DC372967
    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_045565.1 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)
    AK298922, BC008923, BM664845, DC372967
    Related
    ENST00000566400.5
  2. NR_045566.1 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)
    AK302224, AY457143, BM664845, DC372967

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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
    72686179..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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