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BBS1 Bardet-Biedl syndrome 1 [ Drosophila melanogaster (fruit fly) ]

Gene ID: 38780, updated on 4-Jan-2025

Summary

Official Symbol
BBS1provided by FlyBase
Official Full Name
Bardet-Biedl syndrome 1provided by FlyBase
Primary source
FLYBASE:FBgn0035741
Locus tag
Dmel_CG14825
See related
AllianceGenome:FB:FBgn0035741
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Drosophila melanogaster
Lineage
Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as
CG14825; Dmel\CG14825
Summary
Predicted to enable patched binding activity and smoothened binding activity. Involved in cilium assembly. Predicted to be located in cilium. Predicted to be part of BBSome. Predicted to be active in axoneme and centrosome. Is expressed in chordotonal neurons; eo neurons; and larval antenno-maxillary sensory complex. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Orthologous to human BBS1 (Bardet-Biedl syndrome 1). [provided by Alliance of Genome Resources, Jan 2025]
Orthologs
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Genomic context

See BBS1 in Genome Data Viewer
Location:
65E4-65E4; 3-19 cM
Exon count:
3
Annotation release Status Assembly Chr Location
Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3L NT_037436.4 (7125905..7128118)
Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3L NT_037436.3 (7119005..7121218)

Chromosome 3L - NT_037436.4Genomic Context describing neighboring genes Neighboring gene Cuticular protein 65Ec Neighboring gene formin 3 Neighboring gene male-specific lethal 3 Neighboring gene Acyl-CoA binding protein 4 Neighboring gene Acyl-CoA binding protein 6 Neighboring gene Acyl-CoA binding protein 3

Genomic regions, transcripts, and products

General gene information

Gene Ontology Provided by FlyBase

Function Evidence Code Pubs
enables patched binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables smoothened binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in cilium assembly IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in cilium assembly ISM
Inferred from Sequence Model
more info
PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to cilium IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
part_of BBSome ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cilium IC
Inferred by Curator
more info
PubMed 

General protein information

Preferred Names
Bardet-Biedl syndrome 1
Names
BBS1-PA
Bardet-Biedl syndrome 1 ortholog
CG14825-PA

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

  1. NT_037436.4 Reference assembly

    Range
    7125905..7128118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_139823.3NP_648080.1  Bardet-Biedl syndrome 1 [Drosophila melanogaster]

    See identical proteins and their annotated locations for NP_648080.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    F3YDL9, Q9VS19
    Related
    FBpp0076621
    Conserved Domains (1) summary
    pfam14779
    Location:7269
    BBS1; Ciliary BBSome complex subunit 1