Mkks - McKusick-Kaufman syndrome Gene

Also Known as Bbs6; 1300013E18Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 59030

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]

Mkks Products (4)

mRNA Protein Name
NM_001141946.1 NP_001135418.1 molecular chaperone MKKS isoform 1
NM_001286981.1 NP_001273910.1 molecular chaperone MKKS isoform 2
NM_001286983.1 NP_001273912.1 molecular chaperone MKKS isoform 3
NM_021527.2 NP_067502.2 molecular chaperone MKKS isoform 1
Biological Process GO Annotation Evidence References Source
acts upstream of or within artery smooth muscle contraction IMP
IMP: Inferred from mutant phenotype
20852044 MGI
acts upstream of or within brain morphogenesis IMP
IMP: Inferred from mutant phenotype
18032602 MGI
acts upstream of or within cartilage development IMP
IMP: Inferred from mutant phenotype
19195025 MGI
acts upstream of or within cerebral cortex development IMP
IMP: Inferred from mutant phenotype
18032602 MGI
acts upstream of or within chaperone-mediated protein complex assembly IMP
IMP: Inferred from mutant phenotype
20080638 MGI
acts upstream of or within cilium assembly IMP
IMP: Inferred from mutant phenotype
15772095 MGI
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
18299575 MGI
acts upstream of or within detection of mechanical stimulus involved in sensory perception of sound IMP
IMP: Inferred from mutant phenotype
16170314 MGI
acts upstream of or within face development IMP
IMP: Inferred from mutant phenotype
18443298 MGI
involved in fat cell differentiation IEP
IEP: Inferred from expression pattern
17379567 MGI
acts upstream of gene expression IMP
IMP: Inferred from mutant phenotype
18317593 MGI
acts upstream of or within hippocampus development IMP
IMP: Inferred from mutant phenotype
18032602 MGI
acts upstream of or within leptin-mediated signaling pathway IMP
IMP: Inferred from mutant phenotype
19150989 MGI
acts upstream of or within negative regulation of GTPase activity IMP
IMP: Inferred from mutant phenotype
23716571 MGI
acts upstream of or within negative regulation of actin filament polymerization IMP
IMP: Inferred from mutant phenotype
23716571 MGI
involved in negative regulation of appetite by leptin-mediated signaling pathway IMP
IMP: Inferred from mutant phenotype
19150989 MGI
acts upstream of or within negative regulation of blood pressure IMP
IMP: Inferred from mutant phenotype
18317593 MGI
acts upstream of or within negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
18317593 MGI
acts upstream of or within non-motile cilium assembly IGI
IGI: Inferred from genetic interaction
16170314 MGI
acts upstream of or within non-motile cilium assembly IMP
IMP: Inferred from mutant phenotype
16170314 MGI
acts upstream of or within photoreceptor cell maintenance IMP
IMP: Inferred from mutant phenotype
15772095 MGI
acts upstream of or within positive regulation of multicellular organism growth IMP
IMP: Inferred from mutant phenotype
18317593 MGI
involved in regulation of cilium beat frequency involved in ciliary motility IMP
IMP: Inferred from mutant phenotype
18299575 MGI
acts upstream of or within regulation of stress fiber assembly IMP
IMP: Inferred from mutant phenotype
23716571 MGI
acts upstream of or within response to inositol IDA
IDA: Inferred from direct assay
34093381 MGI
acts upstream of or within response to leptin IMP
IMP: Inferred from mutant phenotype
18317593 MGI
acts upstream of or within sensory perception of smell IMP
IMP: Inferred from mutant phenotype
15772095 MGI
acts upstream of or within social behavior IMP
IMP: Inferred from mutant phenotype
15772095 MGI
acts upstream of or within spermatid development IMP
IMP: Inferred from mutant phenotype
15772095 MGI
acts upstream of or within striatum development IMP
IMP: Inferred from mutant phenotype
18032602 MGI
acts upstream of or within vasodilation IMP
IMP: Inferred from mutant phenotype
20852044 MGI
Cellular Component GO Annotation Evidence References Source
located in ciliary basal body IDA
IDA: Inferred from direct assay
22446187 MGI
located in kinociliary basal body IDA
IDA: Inferred from direct assay
22446187 MGI
located in motile cilium IMP
IMP: Inferred from mutant phenotype
18299575 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

molecular chaperone MKKS

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

  • McKusick-Kaufman syndrome protein

  • McKusick-Kaufman syndrome protein

  • MKKS protein

  • mcKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

  • protein Bbs6 homolog

Orthologs Information

Species Symbol Source ID
Homo sapiens Mkks NCBI NCBI:8195