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
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.
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.