bbs5 Bardet-Biedl syndrome 5 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: bbs5provided by ZNC
Official Full Name: Bardet-Biedl syndrome 5provided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-1083
See related: Ensembl:ENSDARG00000039827 AllianceGenome:ZFIN:ZDB-GENE-040426-1083
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:56578
Summary: Predicted to enable phosphatidylinositol-3-phosphate binding activity. Involved in heart looping and melanosome transport. Acts upstream of or within several processes, including Kupffer's vesicle development; camera-type eye photoreceptor cell development; and pigment granule aggregation in cell center. Predicted to be located in centriolar satellite; ciliary membrane; and cytoplasm. Predicted to be part of BBSome. Predicted to be active in ciliary basal body. Is expressed in forebrain; margin; tail bud; and visual system. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 5. Orthologous to human BBS5 (Bardet-Biedl syndrome 5). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 9

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	9	NC_007120.7 (48284606..48296460, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	9	NC_007120.6 (48587211..48599035, complement)

Chromosome 9 - NC_007120.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables phosphatidylinositol-3-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Kupffer's vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye photoreceptor cell 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_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
involved_in heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intracellular transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome transport	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
acts_upstream_of_or_within pronephros formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BBSome	IBA Inferred from Biological aspect of Ancestor more info
part_of BBSome	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in centriolar satellite	IEA Inferred from Electronic Annotation more info
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
located_in cilium	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: BBSome complex member BBS5

Names: bardet-Biedl syndrome 5 protein 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_200299.2 → NP_956593.1 BBSome complex member BBS5

See identical proteins and their annotated locations for NP_956593.1

Status: VALIDATED

Source sequence(s)

CU182074

UniProtKB/Swiss-Prot

Q7ZWB7

Related

ENSDARP00000058254.4, ENSDART00000058255.5

Conserved Domains (2) summary

smart00683
Location:159 → 213

DM16; Repeats in sea squirt COS41.4, worm R01H10.6, fly CG1126 etc

pfam07289
Location:8 → 340

DUF1448; Protein of unknown function (DUF1448)