InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BBS12

Summary

InnateDB Protein

IDBP-37001.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BBS12

Protein Name

Bardet-Biedl syndrome 12

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000319062

InnateDB Gene

IDBG-36999 (BBS12)

Protein Structure

UniProt Annotation

Function

Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation. {ECO:0000269PubMed:19190184, ECO:0000269PubMed:20080638}.

Subcellular Localization

Cell projection, cilium {ECO:0000269PubMed:19190184}. Note=Located within the basal body of the primary cilium of differentiating preadipocytes.

Disease Associations

Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269PubMed:17160889, ECO:0000269PubMed:20120035, ECO:0000269PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.

Experimentally validated
Total	17 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding

Biological Process

GO:0044267	cellular protein metabolic process
GO:0045599	negative regulation of fat cell differentiation
GO:0051131	chaperone-mediated protein complex assembly