• Gene id: 8195

Gene Summary

• Gene Symbol: MKKS   Gene   UCSC   Ensembl
• Aliases: BBS6, HMCS, KMS, MKS
• Gene name: McKusick-Kaufman syndrome
• Alternate names: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin, Bardet-Biedl syndrome 6 protein,
• Gene location: 20p12.2 (24472904: 23792020)     Exons: 24     NC_000004.12
• Gene summary(Entrez): This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type
• OMIM: 604896

Protein Summary

• Protein general information: Q9NPJ1  
  • Name: McKusick Kaufman/Bardet Biedl syndromes putative chaperonin (Bardet Biedl syndrome 6 protein)
  • Length: 570  
  • Mass: 62342
  • Tissue specificity: Widely expressed in adult and fetal tissues.
• Sequence:

  MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILK
  ILTASIQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQIL
  LCLVRSILTSKPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEV
  QLMRLLPIKKSTALKVALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPS
  LKQFLNMHRIIAIDRIGVTLMEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLL
  CNRNDTAWDELKLTCQTALHVLQLTLKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAF
  CSALESVVGSLEHDGGEILTDMKYGHLWSVQADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSC
  LPHEAVGSASNLTLDCLTAKLSGLQVAVETANLILDLSYVIEDKN

• Structural information:
  • Interpro: IPR002423  IPR027409  IPR027413  IPR028790  IPR027410  
  • DIP: 60349
  • STRING: ENSP00000246062
• Other Databases: GeneCards:  MKKS  Malacards:  MKKS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0032502	developmental process	IBA	biological process
GO:0036064	ciliary basal body	IBA	cellular component
GO:0046907	intracellular transport	IBA	biological process
GO:0051131	chaperone-mediated protein complex assembly	IBA	biological process
GO:0060271	cilium assembly	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:1902636	kinociliary basal body	IBA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006457	protein folding	IEA	biological process
GO:0051082	unfolded protein binding	IEA	molecular function
GO:0060271	cilium assembly	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0051082	unfolded protein binding	TAS	molecular function
GO:0007507	heart development	TAS	biological process
GO:0006457	protein folding	TAS	biological process
GO:0008406	gonad development	TAS	biological process
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI	molecular function
GO:0005622	intracellular	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060324	face development	IEA	biological process
GO:0060296	regulation of cilium beat frequency involved in ciliary motility	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0051492	regulation of stress fiber assembly	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0051131	chaperone-mediated protein complex assembly	IEA	biological process
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IEA	biological process
GO:0048854	brain morphogenesis	IEA	biological process
GO:0045776	negative regulation of blood pressure	IEA	biological process
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0045444	fat cell differentiation	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0035176	social behavior	IEA	biological process
GO:0034260	negative regulation of GTPase activity	IEA	biological process
GO:0030837	negative regulation of actin filament polymerization	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0021756	striatum development	IEA	biological process
GO:0014824	artery smooth muscle contraction	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:1902636	kinociliary basal body	IEA	cellular component
GO:0044321	response to leptin	IEA	biological process
GO:0042311	vasodilation	IEA	biological process
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	IEA	biological process
GO:0033210	leptin-mediated signaling pathway	IEA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0021987	cerebral cortex development	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0007608	sensory perception of smell	IEA	biological process
GO:0001947	heart looping	ISS	biological process
GO:0007286	spermatid development	ISS	biological process
GO:0021756	striatum development	ISS	biological process
GO:0021766	hippocampus development	ISS	biological process
GO:0032402	melanosome transport	ISS	biological process
GO:0035176	social behavior	ISS	biological process
GO:0045444	fat cell differentiation	ISS	biological process
GO:0045494	photoreceptor cell maintenance	ISS	biological process
GO:0046907	intracellular transport	ISS	biological process
GO:0048854	brain morphogenesis	ISS	biological process
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	ISS	biological process
GO:0060027	convergent extension involved in gastrulation	ISS	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0060296	regulation of cilium beat frequency involved in ciliary motility	ISS	biological process
GO:0007368	determination of left/right symmetry	ISS	biological process
GO:0007608	sensory perception of smell	ISS	biological process
GO:0021987	cerebral cortex development	ISS	biological process
GO:0031514	motile cilium	ISS	cellular component
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	ISS	biological process
GO:0051877	pigment granule aggregation in cell center	ISS	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Bardet-Biedl syndrome	KEGG:H00418
McKusick-Kaufman syndrome	KEGG:H02180
Bardet-Biedl syndrome	KEGG:H00418
McKusick-Kaufman syndrome	KEGG:H02180
Congenital heart disease	PMID:12107442
Bardet-Biedl syndrome	PMID:10973251
obesity	PMID:15483080
obesity	PMID:10973251
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray