Homo sapiens Gene: MKKS
Summary
InnateDB Gene IDBG-54068.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MKKS
Gene Name McKusick-Kaufman syndrome
Synonyms BBS6; HMCS; KMS; MKS;
Species Homo sapiens
Ensembl Gene ENSG00000125863
Encoded Proteins
McKusick-Kaufman syndrome
McKusick-Kaufman syndrome
McKusick-Kaufman syndrome
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 20:10401009-10434222
Strand Reverse strand
Band p12.2
Transcripts
ENST00000347364 ENSP00000246062
ENST00000399054 ENSP00000382008
ENST00000609375 ENSP00000477297
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 25 [view]
Protein-Protein 25 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [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:0001947 heart looping
GO:0006457 protein folding
GO:0007286 spermatid development
GO:0007368 determination of left/right symmetry
GO:0007507 heart development
GO:0007601 visual perception
GO:0007608 sensory perception of smell
GO:0008406 gonad development
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:0032402 melanosome transport
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:0046907 intracellular transport
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:0051877 pigment granule aggregation in cell center
GO:0060027 convergent extension involved in gastrulation
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
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt
TrEMBL Q9HB66
UniProt Splice Variant
Entrez Gene 8195
UniGene
RefSeq NM_018848 NM_170784
HUGO HGNC:7108
OMIM 604896
CCDS CCDS13111
HPRD
IMGT
EMBL AF275813 AL034430 CH471133 HF548059
GenPept AAG23823 CCO13770 EAX10343
RNA Seq Atlas 8195