bbs4 Bardet-Biedl syndrome 4 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: bbs4provided by ZNC
Official Full Name: Bardet-Biedl syndrome 4provided by ZNC
Primary source: ZFIN:ZDB-GENE-060126-2
See related: Ensembl:ENSDARG00000063522 AllianceGenome:ZFIN:ZDB-GENE-060126-2
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:152964
Summary: Acts upstream of or within several processes, including Kupffer's vesicle development; embryonic morphogenesis; and establishment of pigment granule localization. Predicted to be located in ciliary membrane and microtubule organizing center. Predicted to be active in ciliary basal body. Is expressed in eye photoreceptor cell. Used to study Bardet-Biedl syndrome and ciliopathy. 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]
Orthologs: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: chromosome: 25

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	25	NC_007136.7 (2668876..2702935)
105	previous assembly	GRCz10 (GCF_000002035.5)	25	NC_007136.6 (2515486..2549545)

Chromosome 25 - NC_007136.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

we show that a centriolar satellite protein, AZI1 (also known as CEP131), interacts with the BBSome and regulates BBSome ciliary trafficking activity. Furthermore, we show that AZI1 interacts with the BBSome through BBS4
Title: The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
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.

Submit: New GeneRIF Correction

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within Kupffer's vesicle development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within Kupffer's vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axis elongation involved in somitogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within axis elongation involved in somitogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within convergent extension	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within convergent extension	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within convergent extension involved in gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of heart left/right asymmetry	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within determination of heart left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanosome transport	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within melanosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell outer segment organization	IGI Inferred from Genetic Interaction 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 pigment granule aggregation in cell center	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cilium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of Notch signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of type B pancreatic cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within rhodopsin metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within rhodopsin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: Bardet-Biedl syndrome 4 protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

NM_001077466.2 → NP_001070934.2 Bardet-Biedl syndrome 4 protein

Status: VALIDATED

Source sequence(s)

BX957346, EH578706, EH589588

UniProtKB/TrEMBL

A0A8M1NBW4, E7EXH4

Related

ENSDARP00000104870.2, ENSDART00000122929.4

Conserved Domains (3) summary

sd00006
Location:270 → 298

TPR; TPR repeat [structural motif]

pfam13414
Location:100 → 166

TPR_11; TPR repeat

cl17171
Location:272 → 340

PH-like; Pleckstrin homology-like domain