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

Gene ID: 102774, updated on 9-May-2024

Summary

Official Symbol
Bbs4provided by MGI
Official Full Name
Bardet-Biedl syndrome 4provided by MGI
Primary source
MGI:MGI:2143311
See related
Ensembl:ENSMUSG00000025235 AllianceGenome:MGI:2143311
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
D9Ertd464e
Summary
Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity; cytoskeletal protein binding activity; and protein-macromolecule adaptor activity. Involved in several processes, including cilium assembly; negative regulation of appetite by leptin-mediated signaling pathway; and regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including fat pad development; nervous system development; and regulation of organelle organization. Located in several cellular components, including centriolar satellite; photoreceptor cell cilium; and photoreceptor inner segment. Part of BBSome. Is expressed in several structures, including brain; cardiovascular system; eye; genitourinary system; and gut. Used to study Bardet-Biedl syndrome 4 and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 4; morbid obesity; and obesity. Orthologous to human BBS4 (Bardet-Biedl syndrome 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in CNS E18 (RPKM 9.8), cerebellum adult (RPKM 9.2) and 21 other tissues See more
Orthologs
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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
RS_2024_02 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)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39345 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:59138959-59139219 Neighboring gene ADP-dependent glucokinase Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:59201235-59201388 Neighboring gene STARR-seq mESC enhancer starr_24298 Neighboring gene STARR-seq mESC enhancer starr_24299 Neighboring gene ariadne RBR E3 ubiquitin protein ligase 1 Neighboring gene STARR-seq mESC enhancer starr_24300 Neighboring gene STARR-seq mESC enhancer starr_24301 Neighboring gene STARR-seq mESC enhancer starr_24302 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

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 Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within dendrite development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within erythrocyte homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within face development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in 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 gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within gene expression 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 
acts_upstream_of_or_within leukocyte homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lymphocyte homeostasis 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 myeloid cell homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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
 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
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 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_001359558.2NP_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_001411791.1NP_001398720.1  Bardet-Biedl syndrome 4 protein homolog isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC134894, CT025587
  3. NM_001411793.1NP_001398722.1  Bardet-Biedl syndrome 4 protein homolog isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC134894, CT025587
  4. NM_001411794.1NP_001398723.1  Bardet-Biedl syndrome 4 protein homolog isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC134894, CT025587
  5. NM_001411795.1NP_001398724.1  Bardet-Biedl syndrome 4 protein homolog isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC134894, CT025587
  6. NM_001411796.1NP_001398725.1  Bardet-Biedl syndrome 4 protein homolog isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC134894, CT025587
  7. NM_175325.4NP_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, CT025587
    Consensus CDS
    CCDS40658.1
    UniProtKB/Swiss-Prot
    Q3UYF0, Q562E1, Q5EBJ7, Q8C1Z7, Q8CA57
    UniProtKB/TrEMBL
    A6H669
    Related
    ENSMUSP00000026265.7, ENSMUST00000026265.8
    Conserved Domains (2) summary
    TIGR02917
    Location:24433
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:101129
    TPR; TPR repeat [structural motif]

RNA

  1. NR_153195.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC134894, CT025587

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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_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]