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

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: human all
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Genomic context

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of the ciliary gene Bbs4 results in defective thermogenesis due to metabolic inefficiency and impaired lipid metabolism.
Title: Loss of the ciliary gene Bbs4 results in defective thermogenesis due to metabolic inefficiency and impaired lipid metabolism.
BBS4 affects the endoplasmic reticulum stress response in early adipogenesis, altering endoplasmic reticulum stress responsiveness and the adipocyte endoplasmic reticulum phenotype.
Title: Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis.
Insulin regulates Bbs4 expression during adipogenesis.
Title: Insulin regulates Bbs4 during adipogenesis.
demonstrated that the MKS transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium
Title: The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.
Bbs1, Bbs2, and Bbs4 proteins (BBSome) are bona fide constituents of intraflagellar transport in olfactory sensory neurons.
Title: Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia.
Bbs4 silencing in 3T3F442A preadipocytes induced accelerated cell division and aberrant differentiation. Bbs4 silenced cells accumulate significantly more triglycerides than control adipocytes.
Title: BBS4 directly affects proliferation and differentiation of adipocytes.
The BBSome binds to the N-terminal region of CEP290 through BBS4 and co-localizes with CEP290 to the transition zone (TZ) of primary cilia and centriolar satellites in ciliated cells, as well as to the connecting cilium in photoreceptor cells.
Title: BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment.
Title: Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
deletions of Bbs1 or Bbs4 affected the olfactory epithelium, causing severe reduction of the ciliated border, disorganization of the dendritic microtubule network and trapping of olfactory ciliary proteins in dendrites and cell bodies.
Title: Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
Bardet-Biedl syndrome (BBS) proteins mediate LepR trafficking and that impaired LepR signaling underlies energy imbalance in BBS.
Title: Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

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

Gene trapped (1) 1 citation
Targeted (5) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW742241 (e-PCR)
- UniSTS:208386

RH126921 (e-PCR)
- UniSTS:208404

AA924263 (e-PCR)
- UniSTS:167622

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

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Preferred Names: Bardet-Biedl syndrome 4 protein homolog

Names: Bardet-Biedl syndrome 4 homolog

NCBI Reference Sequences (RefSeq)

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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)

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

Status: VALIDATED

Source sequence(s)

AC134894, CT025587

Conserved Domains (2) summary

sd00006
Location:209 → 237

TPR; TPR repeat [structural motif]

cl26002
Location:77 → 372

TPR_11; TPR repeat
NM_001411791.1 → NP_001398720.1 Bardet-Biedl syndrome 4 protein homolog isoform 3

Status: VALIDATED

Source sequence(s)

AC134894, CT025587
NM_001411793.1 → NP_001398722.1 Bardet-Biedl syndrome 4 protein homolog isoform 4

Status: VALIDATED

Source sequence(s)

AC134894, CT025587
NM_001411794.1 → NP_001398723.1 Bardet-Biedl syndrome 4 protein homolog isoform 5

Status: VALIDATED

Source sequence(s)

AC134894, CT025587
NM_001411795.1 → NP_001398724.1 Bardet-Biedl syndrome 4 protein homolog isoform 5

Status: VALIDATED

Source sequence(s)

AC134894, CT025587
NM_001411796.1 → NP_001398725.1 Bardet-Biedl syndrome 4 protein homolog isoform 5

Status: VALIDATED

Source sequence(s)

AC134894, CT025587
NM_175325.4 → NP_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:24 → 433

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:101 → 129

TPR; TPR repeat [structural motif]

RNA

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

59229249..59260791 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036154544.1 → XP_036010437.1 Bardet-Biedl syndrome 4 protein homolog isoform X1

Conserved Domains (2) summary

TIGR02917
Location:1 → 261

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:98 → 126

TPR; TPR repeat [structural motif]