Gene Symbol:	MKKS ( BBS6,HMCS,KMS,MKS )
Gene Full Name:	McKusick-Kaufman syndrome
Band:	20p12.2
Quick Links	Entrez ID:8195; OMIM: 604896; Uniprot ID:MKKS_HUMAN; ENSEMBL ID: ENSG00000125863; HGNC ID: 7108
Relate to Another Database:	SFARIGene; denovo-db

GO ID	Evidence	Qualifier	GO_term	References
GO:0005622	IDA	-	intracellular	-
GO:0005813	IDA	-	centrosome	-
GO:0005829	IEA	-	cytosol	-
GO:0031514	ISS	-	motile cilium	-
GO:0036064	IBA	-	ciliary basal body	-
GO:1902636	IEA	-	kinociliary basal body	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0001103	IPI	-	RNA polymerase II repressing transcription factor binding	22302990
GO:0005515	IPI	-	protein binding	16327777
GO:0005524	IEA	-	ATP binding	-
GO:0044183	IBA	-	protein binding involved in protein folding	-
GO:0051082	IBA	-	unfolded protein binding	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0001947	ISS	-	heart looping	-
GO:0006457	TAS	-	protein folding	10802661
GO:0006458	IBA	-	'de novo' protein folding	-
GO:0007286	ISS	-	spermatid development	-
GO:0007368	ISS	-	determination of left/right symmetry	-
GO:0007507	TAS	-	heart development	10802661
GO:0007601	IEA	-	visual perception	-
GO:0007608	ISS	-	sensory perception of smell	-
GO:0008406	TAS	-	gonad development	10802661
GO:0010629	IEA	-	negative regulation of gene expression	-
GO:0014824	IEA	-	artery smooth muscle contraction	-
GO:0021756	ISS	-	striatum development	-
GO:0021766	ISS	-	hippocampus development	-
GO:0021987	ISS	-	cerebral cortex development	-
GO:0030837	IEA	-	negative regulation of actin filament polymerization	-
GO:0032402	ISS	-	melanosome transport	-
GO:0034260	IEA	-	negative regulation of GTPase activity	-
GO:0035176	ISS	-	social behavior	-
GO:0038108	ISS	-	negative regulation of appetite by leptin-mediated signaling pathway	-
GO:0040018	IEA	-	positive regulation of multicellular organism growth	-
GO:0042311	IEA	-	vasodilation	-
GO:0045444	ISS	-	fat cell differentiation	-
GO:0045494	ISS	-	photoreceptor cell maintenance	-
GO:0045776	IEA	-	negative regulation of blood pressure	-
GO:0046907	ISS	-	intracellular transport	-
GO:0048854	ISS	-	brain morphogenesis	-
GO:0050910	ISS	-	detection of mechanical stimulus involved in sensory perception of sound	-
GO:0051131	IEA	-	chaperone-mediated protein complex assembly	-
GO:0051216	IEA	-	cartilage development	-
GO:0051492	IEA	-	regulation of stress fiber assembly	-
GO:0051877	ISS	-	pigment granule aggregation in cell center	-
GO:0060027	ISS	-	convergent extension involved in gastrulation	-
GO:0060271	IBA	-	cilium assembly	-
GO:0060271	ISS	-	cilium assembly	-
GO:0060296	ISS	-	regulation of cilium beat frequency involved in ciliary motility	-
GO:0060324	IEA	-	face development	-
GO:0061077	IBA	-	chaperone-mediated protein folding	-
GO:1905515	IEA	-	non-motile cilium assembly	-

Gene Symbol	Interactant	Interaction ID	References	Description
MKKS	ICA1	113837	17353931	Affinity Capture-MS
MKKS	ICA1	109609	17353931	Affinity Capture-MS
MKKS	PTN	113837	16169070	Two-hybrid
MKKS	PTN	111731	16169070	Two-hybrid
MKKS	TGIF1	112908	17353931	Affinity Capture-MS
MKKS	TGIF1	113837	17353931	Affinity Capture-MS
STK16	MKKS	113837	17353931	Affinity Capture-MS
STK16	MKKS	114144	17353931	Affinity Capture-MS

AutismKB 2.0

Annotation Details for MKKS