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

Gene ID: 393269, updated on 5-Nov-2022

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
PROVISIONAL
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; animal organ morphogenesis; and pigment granule aggregation in cell center. Predicted to be located in ciliary membrane; cytoplasm; and cytoskeleton. Predicted to be part of BBSome. Predicted to be active in ciliary basal body. Is expressed in forebrain; margin; retina; and tail bud. 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, Apr 2022]
Annotation information
Annotation category: partial on reference assembly
Orthologs
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Genomic context

See bbs5 in Genome Data Viewer
Location:
chromosome: 9
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCz11 (GCF_000002035.6) 9 NC_007120.7 (48284606..48296430, complement)
105 previous assembly GRCz10 (GCF_000002035.5) 9 NC_007120.6 (48587211..48599035, complement)
103 previous assembly Zv9 (GCF_000002035.4) 9 NC_007120.5 (49272141..49283965, complement)

Chromosome 9 - NC_007120.7Genomic Context describing neighboring genes Neighboring gene FAST kinase domains 1 Neighboring gene kelch-like family member 41a Neighboring gene collagen, type XXVIII, alpha 2a Neighboring gene zgc:172182

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC56578

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of BBSome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of BBSome IEA
Inferred from Electronic Annotation
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

Preferred 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)

  1. NM_200299.1NP_956593.1  Bardet-Biedl syndrome 5 protein homolog

    See identical proteins and their annotated locations for NP_956593.1

    Status: PROVISIONAL

    Source sequence(s)
    BC049492
    UniProtKB/Swiss-Prot
    Q7ZWB7
    Related
    ENSDARP00000058254.4, ENSDART00000058255.5
    Conserved Domains (2) summary
    smart00683
    Location:159213
    DM16; Repeats in sea squirt COS41.4, worm R01H10.6, fly CG1126 etc
    pfam07289
    Location:8340
    DUF1448; Protein of unknown function (DUF1448)

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...Open this link in a new tab

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007120.7 Reference GRCz11 Primary Assembly

    Range
    48284606..48296430 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)