Bbs9 - Bardet-Biedl syndrome 9 (human) Gene

Also Known as E130103I17Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 319845

Summary

Involved in cilium assembly. Acts upstream of or within fat cell differentiation. Located in membrane. Part of BBSome. Is expressed in midgut; nervous system; sensory organ; and spleen. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 9; craniosynostosis; and primary ovarian insufficiency. Orthologous to human BBS9 (Bardet-Biedl syndrome 9). [provided by Alliance of Genome Resources, Apr 2022]

Bbs9 Products (4)

mRNA Protein Name
NM_001360258.1 NP_001347187.1 protein PTHB1 isoform 1
NM_001360259.1 NP_001347188.1 protein PTHB1 isoform 2
NM_178415.1 NP_848502.1 protein PTHB1 isoform 1
NM_181316.4 NP_851833.2 protein PTHB1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22072986 MGI
Biological Process GO Annotation Evidence References Source
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
22479622 MGI
involved in fat cell differentiation IEP
IEP: Inferred from expression pattern
17379567 MGI
Cellular Component GO Annotation Evidence References Source
part of BBSome IDA
IDA: Inferred from direct assay
22072986 MGI
located in membrane IDA
IDA: Inferred from direct assay
22139371 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

protein PTHB1

  • EST 3159894

  • bardet-Biedl syndrome 9 protein homolog

  • parathyroid hormone-responsive B1 gene protein homolog

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01391 BBS9 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Bbs9 NCBI NCBI:27241