Version 5.4
Bos taurus Gene: MKKS
Summary
InnateDB Gene IDBG-636458.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MKKS
Gene Name McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000034987
Encoded Proteins
IDBP-688388
McKusick-Kaufman syndrome
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000125863:
This gene encodes a protein which shares sequence similarity with other members of the chaperonin family. The encoded protein may have a role in protein folding, processing and assembly. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:3574758-3582527
Strand Reverse strand
Band
Transcripts
ENSBTAT00000049460 ENSBTAP00000046348
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 22 interaction(s) predicted by orthology.
Predicted by orthology
Total 22 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0051082 unfolded protein binding
Biological Process
GO:0006457 protein folding
GO:0007286 spermatid development
GO:0007608 sensory perception of smell
GO:0010629 negative regulation of gene expression
GO:0014824 artery smooth muscle contraction
GO:0021756 striatum development
GO:0021766 hippocampus development
GO:0021987 cerebral cortex development
GO:0033210 leptin-mediated signaling pathway
GO:0035058 nonmotile primary cilium assembly
GO:0035176 social behavior
GO:0038108 negative regulation of appetite by leptin-mediated signaling pathway
GO:0040018 positive regulation of multicellular organism growth
GO:0042311 vasodilation
GO:0042384 cilium assembly
GO:0044267 cellular protein metabolic process
GO:0044321 response to leptin
GO:0045444 fat cell differentiation
GO:0045494 photoreceptor cell maintenance
GO:0045776 negative regulation of blood pressure
GO:0048854 brain morphogenesis
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound
GO:0051131 chaperone-mediated protein complex assembly
GO:0051216 cartilage development
GO:0060271 cilium morphogenesis
GO:0060296 regulation of cilium beat frequency involved in ciliary motility
Cellular Component
GO:0005622 intracellular
GO:0005813 centrosome
GO:0031514 motile cilium
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000125863
View Gene Order
ENSMUSG00000027274
View Gene Order
Cross-References
SwissProt
TrEMBL E1BNU6
UniProt Splice Variant
Entrez Gene 614288
UniGene Bt.60091
RefSeq NM_001206171 XM_005214075 XM_005214076 XM_005214077 XM_005214078
HUGO HGNC:7108
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02035065
GenPept
RNA Seq Atlas 614288

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca