Entity Details

Primary name MKKS_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NPJ1
EntryNameMKKS_HUMAN
FullNameMcKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
TaxID9606
Evidenceevidence at protein level
Length570
SequenceStatuscomplete
DateCreated2000-12-01
DateModified2021-06-02

Ontological Relatives

GenesMKKS

GO terms

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GOName
GO:0001947 heart looping
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
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:0016887 ATP hydrolysis activity
GO:0021756 striatum development
GO:0021766 hippocampus development
GO:0021987 cerebral cortex development
GO:0030837 negative regulation of actin filament polymerization
GO:0031514 motile cilium
GO:0032402 melanosome transport
GO:0032502 developmental process
GO:0034260 negative regulation of GTPase activity
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: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:0051082 unfolded protein binding
GO:0051131 chaperone-mediated protein complex assembly
GO:0051216 cartilage development
GO:0051492 regulation of stress fiber assembly
GO:0051877 pigment granule aggregation in cell center
GO:0060027 convergent extension involved in gastrulation
GO:0060271 cilium assembly
GO:0060296 regulation of cilium beat frequency involved in ciliary motility
GO:0060324 face development
GO:1902636 kinociliary basal body
GO:1905515 non-motile cilium assembly

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR002423 Chaperonin Cpn60/TCP-1 familyFamilyFamily
IPR027409 GroEL-like apical domain superfamilyFamilyHomologous superfamily
IPR027410 TCP-1-like chaperonin intermediate domain superfamilyFamilyHomologous superfamily
IPR027413 GroEL-like equatorial domain superfamilyFamilyHomologous superfamily
IPR028790 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperoninFamilyFamily

Diseases

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Disease IDSourceNameDescription
236700 OMIMMcKusick-Kaufman syndrome (MKKS)Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects. The disease is caused by variants affecting the gene represented in this entry.
605231 OMIMBardet-Biedl syndrome 6 (BBS6)A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The disease is caused by variants affecting the gene represented in this entry.