HUMAN:MKKS

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	MKKS (synonyms: BBS6)
Protein Name(s)	McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin Bardet-Biedl syndrome 6 protein
External Links
UniProt	Q9NPJ1
EMBL	AF221992 AF221993 AK291925 AL157427 AL034430 CH471133 CH471133
CCDS	CCDS13111.1
PIR	T46911
RefSeq	NP_061336.1 NP_740754.1
UniGene	Hs.472119 Hs.741430
ProteinModelPortal	Q9NPJ1
SMR	Q9NPJ1
BioGrid	113837
DIP	DIP-60349N
IntAct	Q9NPJ1
MINT	MINT-1429008
STRING	9606.ENSP00000246062
PhosphoSite	Q9NPJ1
DMDM	11133565
PaxDb	Q9NPJ1
PRIDE	Q9NPJ1
DNASU	8195
Ensembl	ENST00000347364 ENST00000399054
GeneID	8195
KEGG	hsa:8195
UCSC	uc002wnt.2
CTD	8195
GeneCards	GC20M010385
GeneReviews	MKKS
HGNC	HGNC:7108
HPA	HPA041071 HPA044233
MIM	209900 236700 604896
neXtProt	NX_Q9NPJ1
Orphanet	110 2473
PharmGKB	PA30826
eggNOG	COG0459
GeneTree	ENSGT00390000007214
HOGENOM	HOG000013131
HOVERGEN	HBG005055
InParanoid	Q9NPJ1
KO	K09492
OMA	SKPACML
OrthoDB	EOG7P02HK
PhylomeDB	Q9NPJ1
TreeFam	TF329106
ChiTaRS	MKKS
GeneWiki	MKKS
GenomeRNAi	8195
NextBio	30894
PRO	PR:Q9NPJ1
Proteomes	UP000005640
Bgee	Q9NPJ1
CleanEx	HS_MKKS
ExpressionAtlas	Q9NPJ1
Genevestigator	Q9NPJ1
GO	GO:0005813 GO:0005829 GO:0005622 GO:0031514 GO:0005524 GO:0001103 GO:0051082 GO:0014824 GO:0048854 GO:0051216 GO:0021987 GO:0051131 GO:0042384 GO:0060271 GO:0060027 GO:0050910 GO:0007368 GO:0045444 GO:0008406 GO:0007507 GO:0001947 GO:0021766 GO:0046907 GO:0032402 GO:0038108 GO:0045776 GO:0010629 GO:0035058 GO:0045494 GO:0051877 GO:0040018 GO:0006457 GO:0060296 GO:0007608 GO:0035176 GO:0007286 GO:0021756 GO:0042311 GO:0007601
Gene3D	1.10.560.10 3.50.7.10
InterPro	IPR002423 IPR027409 IPR027413 IPR028790
PANTHER	PTHR11353 PTHR11353:SF12
Pfam	PF00118
SUPFAM	SSF48592 SSF52029

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
	GO:0005515	protein binding	PMID:20080638^[1]	ECO:0000021		UniProtKB:Q6ZW61	F	Fig 1: A Interactions between BBS6, BBS10 and BBS12 using co-IP assay.	complete
part_of	GO:0005634	nucleus	PMID:28753627^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:28753627^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:28753627^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005622	intracellular	GO_REF:0000054	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0060296	regulation of cilium beat frequency involved in ciliary motility	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0060027	convergent extension involved in gastrulation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q7ZVV0	P	Seeded From UniProt	complete
involved_in	GO:0051877	pigment granule aggregation in cell center	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q7ZVV0	P	Seeded From UniProt	complete
involved_in	GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0048854	brain morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0046907	intracellular transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q7ZVV0	P	Seeded From UniProt	complete
involved_in	GO:0045494	photoreceptor cell maintenance	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0045444	fat cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0035176	social behavior	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0032402	melanosome transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q7ZVV0	P	Seeded From UniProt	complete
part_of	GO:0031514	motile cilium	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	C	Seeded From UniProt	complete
involved_in	GO:0021987	cerebral cortex development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0021766	hippocampus development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0021756	striatum development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0007608	sensory perception of smell	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0007368	determination of left/right symmetry	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q7ZVV0	P	Seeded From UniProt	complete
involved_in	GO:0007286	spermatid development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JI70	P	Seeded From UniProt	complete
involved_in	GO:0001947	heart looping	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q7ZVV0	P	Seeded From UniProt	complete
part_of	GO:1902636	kinociliary basal body	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1891836 PANTHER:PTN000887928	C	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1891836 PANTHER:PTN000887928 UniProtKB:Q9NPJ1 ZFIN:ZDB-GENE-040426-757	P	Seeded From UniProt	complete
involved_in	GO:0051131	chaperone-mediated protein complex assembly	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1891836 PANTHER:PTN000887928	P	Seeded From UniProt	complete
involved_in	GO:0046907	intracellular transport	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000887928 ZFIN:ZDB-GENE-040426-757	P	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1891836 PANTHER:PTN000887928	C	Seeded From UniProt	complete
involved_in	GO:0032502	developmental process	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1891836 PANTHER:PTN000887928 ZFIN:ZDB-GENE-040426-757	P	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000887928 UniProtKB:Q9NPJ1 ZFIN:ZDB-GENE-040426-757	C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000887928 UniProtKB:Q9NPJ1 ZFIN:ZDB-GENE-040426-757	C	Seeded From UniProt	complete
enables	GO:0001103	RNA polymerase II repressing transcription factor binding	PMID:22302990^[4]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q99496	F	Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:1905515	non-motile cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
part_of	GO:1902636	kinociliary basal body	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	C	Seeded From UniProt	complete
involved_in	GO:0060324	face development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0060296	regulation of cilium beat frequency involved in ciliary motility	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0051492	regulation of stress fiber assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0051216	cartilage development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0051131	chaperone-mediated protein complex assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0048854	brain morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0045776	negative regulation of blood pressure	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0045494	photoreceptor cell maintenance	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0045444	fat cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0044321	response to leptin	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0042311	vasodilation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0040018	positive regulation of multicellular organism growth	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	C	Seeded From UniProt	complete
involved_in	GO:0035176	social behavior	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0034260	negative regulation of GTPase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0033210	leptin-mediated signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
part_of	GO:0031514	motile cilium	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	C	Seeded From UniProt	complete
involved_in	GO:0030837	negative regulation of actin filament polymerization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0021987	cerebral cortex development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0021766	hippocampus development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0021756	striatum development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0014824	artery smooth muscle contraction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0010629	negative regulation of gene expression	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0007608	sensory perception of smell	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
involved_in	GO:0007286	spermatid development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9JI70 ensembl:ENSMUSP00000105716	P	Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR002423	F	Seeded From UniProt	complete
involved_in	GO:0006457	protein folding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR028790	P	Seeded From UniProt	complete
enables	GO:0051082	unfolded protein binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR028790	F	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR028790	P	Seeded From UniProt	complete
enables	GO:0051082	unfolded protein binding	PMID:10802661^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0008406	gonad development	PMID:10802661^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0007507	heart development	PMID:10802661^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0006457	protein folding	PMID:10802661^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C	Seeded From UniProt	complete
involved_in	GO:0007601	visual perception	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0844	P	Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0547	F	Seeded From UniProt	complete
involved_in	GO:0050896	response to stimulus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0716	P	Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0206	C	Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0067	F	Seeded From UniProt	complete
part_of	GO:0005815	microtubule organizing center	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0048	C	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0091	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Seo, S et al. (2010) BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc. Natl. Acad. Sci. U.S.A. 107 1488-93 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 Scott, CA et al. (2017) Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genet. 13 e1006936 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 ^3.6 ^3.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Gascue, C et al. (2012) Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. J. Cell. Sci. 125 362-75 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 Stone, DL et al. (2000) Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat. Genet. 25 79-82 PubMed GONUTS page

[PMID:20080638-1] Seo, S et al. (2010) BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc. Natl. Acad. Sci. U.S.A. 107 1488-93 PubMed GONUTS page

[PMID:28753627-2] 2.0 ^2.1 ^2.2 Scott, CA et al. (2017) Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genet. 13 e1006936 PubMed GONUTS page

[PMID:21873635-3] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 ^3.6 ^3.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:22302990-4] Gascue, C et al. (2012) Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. J. Cell. Sci. 125 362-75 PubMed GONUTS page

[PMID:10802661-5] 5.0 ^5.1 ^5.2 ^5.3 Stone, DL et al. (2000) Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat. Genet. 25 79-82 PubMed GONUTS page

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HUMAN:MKKS

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Annotations

Notes

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