Bbs4 Bardet-Biedl syndrome 4 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Bbs4provided by RGD
Official Full Name: Bardet-Biedl syndrome 4provided by RGD
Primary source: RGD:1309134
See related: EnsemblRapid:ENSRNOG00000026171 AllianceGenome:RGD:1309134
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
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 protein localization to centrosome. Predicted to be located in several cellular components, including ciliary membrane; microtubule organizing center; and photoreceptor cell cilium. Predicted to be part of BBSome. Predicted to be active in ciliary basal body. 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, Dec 2024]
Expression: Biased expression in Brain (RPKM 94.8), Adrenal (RPKM 93.6) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 8q24

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	8	NC_086026.1 (68627739..68661232, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	8	NC_051343.1 (59731912..59765408, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	8	NC_005107.4 (64115005..64154432, complement)

Chromosome 8 - NC_086026.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

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-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in B cell homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within B cell homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adipose tissue development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adult behavior	ISO Inferred from Sequence Orthology more info
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within brain morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in centrosome cycle	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cerebral cortex development	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dendrite development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within erythrocyte homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within face development	ISO Inferred from Sequence Orthology more info
involved_in fat cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within fat pad development	ISO Inferred from Sequence Orthology more info
acts_upstream_of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hippocampus development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within homeostasis of number of cells	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within leptin-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within leukocyte homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lymphocyte homeostasis	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in mitotic cytokinesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myeloid cell homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of actin filament polymerization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of appetite by leptin-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of systemic arterial blood pressure	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural tube closure	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron migration	ISO Inferred from Sequence Orthology more info
NOT involved_in non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within photoreceptor cell maintenance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within photoreceptor cell outer segment organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of multicellular organism growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization	ISO Inferred from Sequence Orthology more info
involved_in protein localization to centrosome	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein localization to centrosome	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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization to photoreceptor outer segment	ISO Inferred from Sequence Orthology more info
involved_in regulation of cilium beat frequency involved in ciliary motility	ISO Inferred from Sequence Orthology more info
involved_in regulation of cytokinesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of lipid metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to leptin	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retina homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retinal rod cell development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sensory perception of smell	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within social behavior	ISO Inferred from Sequence Orthology more info
involved_in sperm flagellum assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sperm flagellum assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatid development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within striatum development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ventricular system development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of BBSome	ISO Inferred from Sequence Orthology more info
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
located_in centriole	ISO Inferred from Sequence Orthology more info
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
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 membrane	ISO Inferred from Sequence Orthology more info
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 nucleus	IEA Inferred from Electronic Annotation more info
located_in pericentriolar material	ISO Inferred from Sequence Orthology more info
located_in photoreceptor connecting cilium	ISO Inferred from Sequence Orthology more info
located_in photoreceptor inner segment	ISO Inferred from Sequence Orthology more info
located_in photoreceptor outer segment	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: Bardet-Biedl syndrome 4 protein

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_001106826.1 → NP_001100296.1 Bardet-Biedl syndrome 4 protein

See identical proteins and their annotated locations for NP_001100296.1

Status: PROVISIONAL

Source sequence(s)

CH473975

UniProtKB/TrEMBL

A0A8I5XWT8, A6J521, D4A8B1

Related

ENSRNOP00000030021.5, ENSRNOT00000031262.6

Conserved Domains (4) summary

smart00028
Location:170 → 201

TPR; Tetratricopeptide repeats

sd00006
Location:101 → 129

TPR; TPR repeat [structural motif]

pfam13414
Location:101 → 166

TPR_11; TPR repeat

pfam13432
Location:342 → 400

TPR_16; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086026.1 Reference GRCr8

Range

68627739..68661232 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039081094.2 → XP_038937022.2 Bardet-Biedl syndrome 4 protein isoform X1
XM_063265123.1 → XP_063121193.1 Bardet-Biedl syndrome 4 protein isoform X2

UniProtKB/TrEMBL

A0A8I5XWT8, A0A8I6A973

Related

ENSRNOP00000087657.1, ENSRNOT00000119362.2
XM_063265124.1 → XP_063121194.1 Bardet-Biedl syndrome 4 protein isoform X3
XM_008766226.4 → XP_008764448.1 Bardet-Biedl syndrome 4 protein isoform X1

Conserved Domains (4) summary

smart00028
Location:2 → 29

TPR; Tetratricopeptide repeats

sd00006
Location:98 → 126

TPR; TPR repeat [structural motif]

pfam13414
Location:100 → 163

TPR_11; TPR repeat

pfam13432
Location:170 → 228

TPR_16; Tetratricopeptide repeat
XM_063265125.1 → XP_063121195.1 Bardet-Biedl syndrome 4 protein isoform X4