MKKS

MKKS
Identifiers
Aliases	MKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome
External IDs	MGI: 1891836 HomoloGene: 10318 GeneCards: MKKS
Gene ontology Molecular function • nucleotide binding • protein binding • RNA polymerase II repressing transcription factor binding • ATP binding • protein binding involved in protein folding • unfolded protein binding Cellular component • cytoplasm • cytosol • centrosome • kinociliary basal body • intracellular • microtubule organizing center • motile cilium • cytoskeleton • ciliary basal body • 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 • cilium morphogenesis • chaperone-mediated protein folding • non-motile cilium assembly Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8195	59030
Ensembl	ENSG00000125863	ENSMUSG00000027274
UniProt	Q9NPJ1 Q9HB66	Q9JI70
RefSeq (mRNA)	NM_018848 NM_170784	NM_001141946 NM_001286981 NM_001286983 NM_021527
RefSeq (protein)	NP_061336 NP_740754	NP_001135418.1 NP_067502.2 NP_001135418 NP_001273910 NP_001273912 NP_067502
Location (UCSC)	Chr 20: 10.4 – 10.43 Mb	Chr 2: 136.87 – 136.89 Mb
PubMed search

8195

59030

ENSG00000125863

ENSMUSG00000027274

Q9NPJ1
Q9HB66

Q9JI70

NM_018848
NM_170784

NM_001141946
NM_001286981
NM_001286983
NM_021527

NP_061336
NP_740754

NP_067502

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.

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.

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