MKKS

This article is about the protein and gene. For the singular, see MKK (disambiguation).

McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.^[4][5]

MKKS
Identifiers
Aliases	MKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome, MKKS centrosomal shuttling protein
External IDs	OMIM: 604896; MGI: 1891836; HomoloGene: 10318; GeneCards: MKKS; OMA:MKKS - orthologs
Gene location (Mouse) Chr. Chromosome 2 (mouse)[1] Band 2|2 F3 Start 136,715,700 bp[1] End 136,733,309 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus caudate nucleus left ventricle Brodmann area 9 nucleus accumbens Top expressed in dentate gyrus of hippocampal formation granule cell muscle of thigh morula right kidney blastocyst proximal tubule ventricular zone duodenum tail of embryo embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein binding ATP binding protein folding chaperone activity unfolded protein binding Cellular component cytosol centrosome kinociliary basal body intracellular anatomical structure microtubule organizing center motile cilium cytoskeleton ciliary basal body cytoplasm nucleus membrane integral component of membrane Biological process pigment granule aggregation in cell center regulation of cilium beat frequency involved in ciliary motility chaperone-mediated protein complex assembly negative regulation of actin filament polymerization negative regulation of appetite by leptin-mediated signaling pathway response to stimulus negative regulation of blood pressure convergent extension involved in gastrulation leptin-mediated signaling pathway vasodilation intracellular transport negative regulation of gene expression regulation of stress fiber assembly detection of mechanical stimulus involved in sensory perception of sound heart looping sensory perception of smell heart development cartilage development face development determination of left/right symmetry negative regulation of GTPase activity protein folding melanosome transport spermatid development artery smooth muscle contraction cerebral cortex development positive regulation of multicellular organism growth social behavior photoreceptor cell maintenance response to leptin hippocampus development gonad development fat cell differentiation striatum development visual perception brain morphogenesis 'de novo' protein folding chaperone-mediated protein folding non-motile cilium assembly cilium assembly developmental process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8195 59030 Ensembl n/a ENSMUSG00000027274 UniProt Q9NPJ1 Q9HB66 Q9JI70 RefSeq (mRNA) NM_018848 NM_170784 NM_001394148 NM_001394149 NM_001141946 NM_001286981 NM_001286983 NM_021527 RefSeq (protein) NP_061336 NP_740754 NP_001135418 NP_001273910 NP_001273912 NP_067502 Location (UCSC) n/a Chr 2: 136.72 – 136.73 Mb PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in protein processing in limb, cardiac and reproductive system development. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 6 and McKusick–Kaufman syndrome. Two transcript variants encoding the same protein have been identified for this gene.^[5]