Mus musculus Gene: Mkks
Summary
InnateDB Gene IDBG-207925.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mkks
Gene Name McKusick-Kaufman syndrome
Synonyms 1300013E18Rik; AI463362; AI957237; Bbs6
Species Mus musculus
Ensembl Gene ENSMUSG00000027274
Encoded Proteins
McKusick-Kaufman syndrome protein
McKusick-Kaufman syndrome protein
McKusick-Kaufman syndrome protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. Alternatively spliced transcripts encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:136873780-136891389
Strand Reverse strand
Band F3
Transcripts
ENSMUST00000028730 ENSMUSP00000028730
ENSMUST00000110089 ENSMUSP00000105716
ENSMUST00000144275 ENSMUSP00000121494
Interactions
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]
Gene Ontology

Molecular Function
Accession GO Term
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:0005829 cytosol
GO:0031514 motile cilium
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.272570 Mm.448991
RefSeq NM_001141946 NM_021527 XM_006499970
OMIM
CCDS CCDS16794
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas