InnateDB Protein
|
IDBP-261015.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
Mkks
|
Protein Name
|
McKusick-Kaufman syndrome protein
|
Synonyms
|
1300013E18Rik; AI463362; AI957237; Bbs6;
|
Species
|
Mus musculus
|
Ensembl Protein
|
ENSMUSP00000105716
|
InnateDB Gene
|
IDBG-207925 (Mkks)
|
Protein Structure
|
|
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 (By similarity). May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (By similarity). {ECO:0000250}.
|
Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Note=The 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 and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome (By similarity). {ECO:0000250}.
|
Disease Associations |
|
Tissue Specificity |
Widely expressed in adult and fetal tissues. Expressed in the developing heart, brain retina, limb buds, as well as in the developing neural tube. Expressed in the embryo in the first and second branchial arches. Expressed in parafin embedded tissue sections of brain, kidney, retina, olfactory epithelium and the ependymal layer of ventricles. Detected only in restricted regions of these tissue sections, including the ciliated border of renal tubules, the connecting cilium and the inner and outer nuclear layers of retina, and the ciliated layer of olfactory epithelia. {ECO:0000269PubMed:15731008}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 20 interaction(s) predicted by orthology.
Experimentally validated |
Total |
2
[view]
|
Protein-Protein |
2
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
20 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
MGI:1891836
|
InterPro |
IPR002423
Chaperonin Cpn60/TCP-1
IPR027409
GroEL-like apical domain
|
PFAM |
PF00118
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9JI70
|
PhosphoSite |
PhosphoSite-
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
59030
|
UniGene |
Mm.448991
|
RefSeq |
NP_067502
|
MGI ID |
|
MGI Symbol |
Mkks
|
OMIM |
|
CCDS |
CCDS16794
|
HPRD |
|
IMGT |
|
EMBL |
AF254074
AK032528
AK032554
AL731706
BC117836
|
GenPept |
AAF73965
AAI17837
BAC27912
BAC27921
CAM17283
|
|
|