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

Predicted to have patched binding activity and smoothened binding activity. Involved in several processes, including Kupffer's vesicle development; melanosome transport; and morphogenesis of an epithelium. Predicted to localize to BBSome and cytoskeleton. Used to study Bardet-Biedl syndrome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Is expressed in eye; kidney; and testis. Orthologous to human BBS1 (Bardet-Biedl syndrome 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7144669 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 42 figures from 14 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

Human Disease	Fish	Conditions	Citations
Bardet-Biedl syndrome	TU + MO1-bbs1	standard conditions	Hostelley et al., 2016

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