Gene

bbs1

ID
ZDB-GENE-060126-1
Name
Bardet-Biedl syndrome 1
Symbol
bbs1 Nomenclature History
Previous Names
  • im:7144669
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Is predicted to enable patched binding activity and smoothened binding activity. Involved in non-motile cilium assembly and protein localization to cilium. Acts upstream of or within several processes, including Kupffer's vesicle development; melanosome transport; and morphogenesis of an epithelium. Predicted to be part of BBSome. Is expressed in eye; kidney; and testis. Used to study Bardet-Biedl syndrome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Orthologous to human BBS1 (Bardet-Biedl syndrome 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
35 figures from 12 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bbs1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bardet-Biedl syndrome 1 Alliance Bardet-Biedl syndrome 1 209900
Associated With bbs1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR032728 Bardet-Biedl syndrome 1, N-terminal
Family IPR028784 Bardet-Biedl syndrome 1 protein
Homologous_superfamily IPR011047 Quinoprotein alcohol dehydrogenase-like superfamily
Homologous_superfamily IPR015943 WD40/YVTN repeat-like-containing domain superfamily
Domain Details Per Protein
Protein Length Bardet-Biedl syndrome 1, N-terminal Bardet-Biedl syndrome 1 protein Quinoprotein alcohol dehydrogenase-like superfamily WD40/YVTN repeat-like-containing domain superfamily
UniProtKB:A4QP86 588
UniProtKB:B3DFT2 588
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations