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Bardet-Biedl syndrome 6 protein; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS, BBS6)
Function:
- probable molecular chaperone
- assists the folding of proteins upon ATP hydrolysis
- component of the BBS/CCT complex
- may play a role in the assembly of the BBsome complex
- component of the interacts with STUB1
Structure:
- the substrate-binding apical domain region is sufficient for centrosomal association
- belongs to the TCP-1 chaperonin family
Compartment:
- cytoplasm, cytoskeleton, centrosome
- majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles
- during interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis, it relocalizes throughout the PCM & is found at the intercellular bridge
- the MKSS protein is highly mobile & rapidly shuttles between the cytosol & centrosome
Expression:
- widely expressed in adult & fetal tissues
Pathology:
- defects in MKKS are the cause of
a) McKusick-Kaufman syndrome
b) Bardet-Biedl syndrome type 6
Related
Bardet-Biedl syndrome
McKusick-Kaufman syndrome (hydrometrocolpos syndrome, hydrometrocolpos, postaxial polydactyly, & congenital heart malformation)
General
Bardet-Biedl syndrome protein (BBS)
Properties
SIZE: MW = 62 kD
entity length = 570 aa
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 192-199
binding site
SITE: 198-370
FOR-BINDING-OF: substrate
Database Correlations
OMIM correlations
MORBIDMAP 604896
UniProt Q9NPJ1
Pfam PF00118
Entrez Gene 8195
Kegg hsa:8195
References
- UniProt :accession Q9NPJ1
- Mutations of the MKKS gene
Retina International's scientific newsletter
http://www.retina-international.org/files/sci-news/mkksmut.htm
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/MKKS