Bbs5 - Bardet-Biedl syndrome 5 (human) Gene

Also Known as 1700049I01Rik; 2700023J09Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 72569

Summary

Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity and phosphatidylinositol-3-phosphate binding activity. Predicted to be involved in cilium assembly and intracellular transport. Predicted to act upstream of or within cell projection organization and protein transport. Located in axoneme; centriolar satellite; and ciliary basal body. Part of BBSome. Is expressed in brain; spinal cord; and testis. Used to study Bardet-Biedl syndrome 5. 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]

Bbs5 Products (2)

mRNA Protein Name
NM_001362706.1 NP_001349635.1 Bardet-Biedl syndrome 5 protein homolog isoform 2
NM_028284.3 NP_082560.1 Bardet-Biedl syndrome 5 protein homolog isoform 1

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
27979967 MGI
Cellular Component GO Annotation Evidence References Source
part of BBSome IDA
IDA: Inferred from direct assay
20603001 MGI
located in axoneme IDA
IDA: Inferred from direct assay
24833722 MGI
located in centriolar satellite IDA
IDA: Inferred from direct assay
27979967 MGI
located in ciliary basal body IDA
IDA: Inferred from direct assay
15137946 MGI
located in cilium IDA
IDA: Inferred from direct assay
27979967 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

Bardet-Biedl syndrome 5 protein homolog

  • novel DUF1448 protein

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01389 BBS5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Bbs5 NCBI NCBI:129880