Q9NPJ1 (MKKS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

Alternative name(s):
Bardet-Biedl syndrome 6 protein

Gene names

Name:	MKKS
Synonyms:	BBS6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	570 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis. Ref.9
Subunit structure	Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8. Interacts with STUB1. Interacts with BBS2 (via coiled coil domain). Interacts with CCDC28B. Ref.7 Ref.8 Ref.9
Subcellular location	Cytoplasm › cytoskeleton › centrosome. Cytoplasm › cytosol. Note: The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome. Ref.6 Ref.8
Tissue specificity	Widely expressed in adult and fetal tissues.
Domain	The substrate-binding apical domain region is sufficient for centrosomal association.
Involvement in disease	McKusick-Kaufman syndrome (MKKS) [MIM:236700]: Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Bardet-Biedl syndrome 6 (BBS6) [MIM:209900]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.17 Ref.18 Ref.19 Ref.22 Ref.23
Sequence similarities	Belongs to the TCP-1 chaperonin family.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Polymorphism
Disease	Bardet-Biedl syndrome Ciliopathy Disease mutation Mental retardation Obesity
Ligand	ATP-binding Nucleotide-binding
Molecular function	Chaperone
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	brain morphogenesis Inferred from sequence or structural similarity. Source: BHF-UCL cerebral cortex development Inferred from sequence or structural similarity. Source: BHF-UCL chaperone-mediated protein complex assembly Inferred from electronic annotation. Source: Compara cilium assembly Inferred from sequence or structural similarity. Source: BHF-UCL convergent extension involved in gastrulation Inferred from sequence or structural similarity. Source: BHF-UCL detection of mechanical stimulus involved in sensory perception of sound Inferred from sequence or structural similarity. Source: BHF-UCL fat cell differentiation Inferred from sequence or structural similarity. Source: BHF-UCL flagellum assembly Inferred from sequence or structural similarity. Source: BHF-UCL gonad development Traceable author statement Ref.1. Source: ProtInc heart looping Inferred from sequence or structural similarity. Source: BHF-UCL hippocampus development Inferred from sequence or structural similarity. Source: BHF-UCL intracellular transport Inferred from sequence or structural similarity. Source: BHF-UCL melanosome transport Inferred from sequence or structural similarity. Source: BHF-UCL negative regulation of appetite by leptin-mediated signaling pathway Inferred from sequence or structural similarity. Source: BHF-UCL negative regulation of blood pressure Inferred from electronic annotation. Source: Compara negative regulation of gene expression Inferred from electronic annotation. Source: Compara nonmotile primary cilium assembly Inferred from electronic annotation. Source: Compara photoreceptor cell maintenance Inferred from sequence or structural similarity. Source: BHF-UCL pigment granule aggregation in cell center Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of multicellular organism growth Inferred from electronic annotation. Source: Compara protein folding Traceable author statement Ref.1. Source: ProtInc regulation of cilium beat frequency involved in ciliary motility Inferred from sequence or structural similarity. Source: BHF-UCL sensory perception of smell Inferred from sequence or structural similarity. Source: BHF-UCL social behavior Inferred from sequence or structural similarity. Source: BHF-UCL spermatid development Inferred from sequence or structural similarity. Source: BHF-UCL striatum development Inferred from sequence or structural similarity. Source: BHF-UCL
Cellular_component	centrosome Inferred from direct assay. Source: HPA cytosol Inferred from electronic annotation. Source: UniProtKB-SubCell motile cilium Inferred from sequence or structural similarity. Source: BHF-UCL
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW unfolded protein binding Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BBS12	Q6ZW61	10	EBI-721319,EBI-6128352
BBS2	Q9BXC9	4	EBI-721319,EBI-748297

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 570	570	McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin		PRO_0000128415
Regions
	Nucleotide binding	192 – 199	8	ATP Potential
	Region	198 – 370	173	Substrate-binding apical domain
Natural variations
	Natural variant	32	1	I → M in BBS6. Ref.12		VAR_017035
	Natural variant	37	1	Y → C in MKKS and BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; the mutant is immobilized at the centrosome even in the absence of proteasome inhibition; the mutant is also highly polyubiquitinated. Ref.1 Ref.8 Ref.9 Ref.11 Ref.13 Corresponds to variant rs74315396 [ dbSNP | Ensembl ].		VAR_009864
	Natural variant	41	1	G → R in BBS6. Ref.22		VAR_066262
	Natural variant	49	1	G → V. Ref.1		VAR_009865
	Natural variant	52	1	G → D in BBS6; fails to associate with centrosome. Ref.6 Ref.9 Ref.10 Corresponds to variant rs28937875 [ dbSNP | Ensembl ].		VAR_009882
	Natural variant	57	1	T → A in BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Y-84 mutant; greatly reduces the ability to interact with BBS12; found heterozygous in a patient with associated heterozygous A-155 in TMEM237. Ref.8 Ref.9 Ref.11 Ref.12 Ref.23 Corresponds to variant rs74315399 [ dbSNP | Ensembl ].		VAR_009883
	Natural variant	84	1	H → Y in MKKS; associated with S-242; may interfere with ATP hydrolysis. Ref.1 Ref.9 Corresponds to variant rs74315395 [ dbSNP | Ensembl ].		VAR_009866
	Natural variant	99	1	C → R in BBS6. Ref.22		VAR_066263
	Natural variant	155	1	R → L in BBS6; increases MKKS protein degradation only; localizes properly to the centrosome. Ref.6 Ref.14 Corresponds to variant rs138111422 [ dbSNP | Ensembl ].		VAR_017040
	Natural variant	181	1	A → P in BBS6. Ref.17		VAR_038898
	Natural variant	236	1	S → P in BBS6. Ref.9 Ref.12 Ref.15		VAR_017036
	Natural variant	237	1	T → A in BBS6. Ref.19		VAR_038899
	Natural variant	237	1	T → P in BBS6. Ref.18 Ref.19		VAR_038900
	Natural variant	242	1	A → S in MKKS and BBS6; associated with Y-84 in MKKS; rare polymorphism with uncertain pathological role; increases MKKS protein degradation. Ref.1 Ref.8 Ref.12 Ref.13 Ref.14 Ref.20 Ref.21 Corresponds to variant rs74315394 [ dbSNP | Ensembl ].		VAR_009867
	Natural variant	277	1	L → P in BBS6; moderately affects interaction with BBS2; greatly reduces the ability to interact with BBS12. Ref.9 Ref.11 Corresponds to variant rs74315398 [ dbSNP | Ensembl ].		VAR_009884
	Natural variant	286	1	D → A in BBS6; fails to associate with centrosome. Ref.6 Ref.12		VAR_017037
	Natural variant	299	1	P → L in BBS6. Ref.22		VAR_066264
	Natural variant	325	1	T → P Has a modifier effect on BBS; causes a mislocalization of the protein; fails to associate with centrosome. Ref.6 Ref.15 Ref.16 Corresponds to variant rs137853156 [ dbSNP | Ensembl ].		VAR_038901
	Natural variant	339	1	I → V in BBS6. Ref.14 Ref.18 Ref.19 Corresponds to variant rs145342800 [ dbSNP | Ensembl ].		VAR_017041
	Natural variant	345	1	G → E in BBS6; increases MKKS protein degradation only; fails to associate with centrosome; the mutant is highly polyubiquitinated and rapidly degraded by the ubiquitin-proteasome protein degradation pathway. Ref.6 Ref.8 Ref.14		VAR_017042
	Natural variant	460	1	S → P in BBS6. Ref.18		VAR_038902
	Natural variant	488	1	A → T in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS12; uncertain pathological role. Ref.22		VAR_066265
	Natural variant	492	1	D → N in BBS6. Ref.17 Corresponds to variant rs142327258 [ dbSNP | Ensembl ].		VAR_038903
	Natural variant	499	1	C → S in BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; localizes properly to the centrosome. Ref.6 Ref.8 Ref.12 Ref.13 Corresponds to variant rs74315400 [ dbSNP | Ensembl ].		VAR_013161
	Natural variant	511	1	S → A in BBS6. Ref.12		VAR_017038
	Natural variant	517	1	R → C. Ref.1 Ref.18 Ref.19 Ref.20 Corresponds to variant rs1547 [ dbSNP | Ensembl ].		VAR_009868
	Natural variant	518	1	R → H in BBS6. Ref.12 Corresponds to variant rs149051148 [ dbSNP | Ensembl ].		VAR_017039
	Natural variant	532	1	G → V. Ref.18 Ref.19 Ref.20 Corresponds to variant rs1545 [ dbSNP | Ensembl ].		VAR_009869

Sequences

	Sequence		Length	Mass (Da)
	Q9NPJ1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 14BA57FF8AEA0AF7	FASTA	570	62,342
	10 20 30 40 50 60 MSRLEAKKPS LCKSEPLTTE RVRTTLSVLK RIVTSCYGPS GRLKQLHNGF GGYVCTTSQS 70 80 90 100 110 120 SALLSHLLVT HPILKILTAS IQNHVSSFSD CGLFTAILCC NLIENVQRLG LTPTTVIRLN 130 140 150 160 170 180 KHLLSLCISY LKSETCGCRI PVDFSSTQIL LCLVRSILTS KPACMLTRKE TEHVSALILR 190 200 210 220 230 240 AFLLTIPENA EGHIILGKSL IVPLKGQRVI DSTVLPGILI EMSEVQLMRL LPIKKSTALK 250 260 270 280 290 300 VALFCTTLSG DTSDTGEGTV VVSYGVSLEN AVLDQLLNLG RQLISDHVDL VLCQKVIHPS 310 320 330 340 350 360 LKQFLNMHRI IAIDRIGVTL MEPLTKMTGT QPIGSLGSIC PNSYGSVKDV CTAKFGSKHF 370 380 390 400 410 420 FHLIPNEATI CSLLLCNRND TAWDELKLTC QTALHVLQLT LKEPWALLGG GCTETHLAAY 430 440 450 460 470 480 IRHKTHNDPE SILKDDECTQ TELQLIAEAF CSALESVVGS LEHDGGEILT DMKYGHLWSV 490 500 510 520 530 540 QADSPCVANW PDLLSQCGCG LYNSQEELNW SFLRSTRRPF VPQSCLPHEA VGSASNLTLD 550 560 570 CLTAKLSGLQ VAVETANLIL DLSYVIEDKN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome." Stone D.L., Slavotinek A.M., Bouffard G.G., Banerjee-Basu S., Baxevanis A.D., Barr M., Biesecker L.G. Nat. Genet. 25:79-82(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS MKKS CYS-37; TYR-84 AND SER-242, VARIANTS VAL-49 AND CYS-517.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Amygdala.
[4]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis." Kim J.C., Ou Y.Y., Badano J.L., Esmail M.A., Leitch C.C., Fiedrich E., Beales P.L., Archibald J.M., Katsanis N., Rattner J.B., Leroux M.R. J. Cell Sci. 118:1007-1020(2005) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS BBS6 ASP-52; LEU-155; ALA-286; GLU-345 AND SER-499, CHARACTERIZATION OF VARIANT PRO-325.
[7]	"Dissection of epistasis in oligogenic Bardet-Biedl syndrome." Badano J.L., Leitch C.C., Ansley S.J., May-Simera H., Lawson S., Lewis R.A., Beales P.L., Dietz H.C., Fisher S., Katsanis N. Nature 439:326-330(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CCDC28B.
[8]	"MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination." Hirayama S., Yamazaki Y., Kitamura A., Oda Y., Morito D., Okawa K., Kimura H., Cyr D.M., Kubota H., Nagata K. Mol. Biol. Cell 19:899-911(2008) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, INTERACTION WITH STUB1, CHARACTERIZATION OF VARIANTS BBS6 CYS-37; ALA-57; SER-242; GLU-345 AND SER-499.
[9]	"BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly." Seo S., Baye L.M., Schulz N.P., Beck J.S., Zhang Q., Slusarski D.C., Sheffield V.C. Proc. Natl. Acad. Sci. U.S.A. 107:1488-1493(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, IDENTIFICATION IN BBS/CCT COMPLEX, INTERACTION WITH BBS2, CHARACTERIZATION OF VARIANTS BBS6 CYS-37; ASP-52; ALA-57; TYR-84; PRO-236 AND PRO-277.
[10]	"Mutations in MKKS cause Bardet-Biedl syndrome." Slavotinek A.M., Stone E.M., Mykytyn K., Heckenlively J.R., Green J.S., Heon E., Musarella M.A., Parfrey P.S., Sheffield V.C., Biesecker L.G. Nat. Genet. 26:15-16(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BBS6 ASP-52.
[11]	"Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome." Katsanis N., Beales P.L., Woods M.O., Lewis R.A., Green J.S., Parfrey P.S., Ansley S.J., Davidson W.S., Lupski J.R. Nat. Genet. 26:67-70(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS6 CYS-37; ALA-57 AND PRO-277. Tissue: Peripheral blood lymphocyte.
[12]	"Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci." Beales P.L., Katsanis N., Lewis R.A., Ansley S.J., Elcioglu N., Raza J., Woods M.O., Green J.S., Parfrey P.S., Davidson W.S., Lupski J.R. Am. J. Hum. Genet. 68:606-616(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS6 MET-32; ALA-57; PRO-236; ALA-286; SER-499; ALA-511 AND HIS-518, VARIANT SER-242.
[13]	"Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder." Katsanis N., Ansley S.J., Badano J.L., Eichers E.R., Lewis R.A., Hoskins B.E., Scambler P.J., Davidson W.S., Beales P.L., Lupski J.R. Science 293:2256-2259(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS6 CYS-37; SER-242 AND SER-499.
[14]	"Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients." Slavotinek A.M., Searby C., Al-Gazali L., Hennekam R.C.M., Schrander-Stumpel C., Orcana-Losa M., Pardo-Reoyo S., Cantani A., Kumar D., Capellini Q., Neri G., Zackai E., Biesecker L.G. Hum. Genet. 110:561-567(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS6 LEU-155; SER-242; VAL-339 AND GLU-345.
[15]	"Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome." Beales P.L., Badano J.L., Ross A.J., Ansley S.J., Hoskins B.E., Kirsten B., Mein C.A., Froguel P., Scambler P.J., Lewis R.A., Lupski J.R., Katsanis N. Am. J. Hum. Genet. 72:1187-1199(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BBS6 PRO-236, VARIANT PRO-325.
[16]	"Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus." Badano J.L., Kim J.C., Hoskins B.E., Lewis R.A., Ansley S.J., Cutler D.J., Castellan C., Beales P.L., Leroux M.R., Katsanis N. Hum. Mol. Genet. 12:1651-1659(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PRO-325, CHARACTERIZATION OF VARIANT PRO-325.
[17]	"Further support for digenic inheritance in Bardet-Biedl syndrome." Fauser S., Munz M., Besch D. J. Med. Genet. 40:E104-E104(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS6 PRO-181 AND ASN-492.
[18]	"Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome." Karmous-Benailly H., Martinovic J., Gubler M.-C., Sirot Y., Clech L., Ozilou C., Auge J., Brahimi N., Etchevers H., Detrait E., Esculpavit C., Audollent S., Goudefroye G., Gonzales M., Tantau J., Loget P., Joubert M., Gaillard D. , Jeanne-Pasquier C., Delezoide A.-L., Peter M.-O., Plessis G., Simon-Bouy B., Dollfus H., Le Merrer M., Munnich A., Encha-Razavi F., Vekemans M., Attie-Bitach T. Am. J. Hum. Genet. 76:493-504(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS6 PRO-237; VAL-339 AND PRO-460, VARIANTS CYS-517 AND VAL-532.
[19]	"Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort." Hichri H., Stoetzel C., Laurier V., Caron S., Sigaudy S., Sarda P., Hamel C., Martin-Coignard D., Gilles M., Leheup B., Holder M., Kaplan J., Bitoun P., Lacombe D., Verloes A., Bonneau D., Perrin-Schmitt F., Brandt C. , Besancon A.-F., Mandel J.-L., Cossee M., Dollfus H. Eur. J. Hum. Genet. 13:607-616(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS6 ALA-237; PRO-237 AND VAL-339, VARIANTS CYS-517 AND VAL-532.
[20]	"Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity." Andersen K.L., Echwald S.M., Larsen L.H., Hamid Y.H., Glumer C., Jorgensen T., Borch-Johnsen K., Andersen T., Sorensen T.I., Hansen T., Pedersen O. J. Clin. Endocrinol. Metab. 90:225-230(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SER-242; CYS-517 AND VAL-532.
[21]	"Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes." Hjortshoj T.D., Gronskov K., Philp A.R., Nishimura D.Y., Riise R., Sheffield V.C., Rosenberg T., Brondum-Nielsen K. Hum. Mutat. 31:429-436(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SER-242, DISCUSSION OF THE PATHOLOGICAL ROLE OF VARIANT SER-242.
[22]	"BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition." Deveault C., Billingsley G., Duncan J.L., Bin J., Theal R., Vincent A., Fieggen K.J., Gerth C., Noordeh N., Traboulsi E.I., Fishman G.A., Chitayat D., Knueppel T., Millan J.M., Munier F.L., Kennedy D., Jacobson S.G., Innes A.M. , Mitchell G.A., Boycott K., Heon E. Hum. Mutat. 32:610-619(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BBS6 ARG-41; ARG-99 AND LEU-299, VARIANT THR-488.
[23]	"TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone." Huang L., Szymanska K., Jensen V.L., Janecke A.R., Innes A.M., Davis E.E., Frosk P., Li C., Willer J.R., Chodirker B.N., Greenberg C.R., McLeod D.R., Bernier F.P., Chudley A.E., Muller T., Shboul M., Logan C.V., Loucks C.M. , Beaulieu C.L., Bowie R.V., Bell S.M., Adkins J., Zuniga F.I., Ross K.D., Wang J., Ban M.R., Becker C., Nurnberg P., Douglas S., Craft C.M., Akimenko M.A., Hegele R.A., Ober C., Utermann G., Bolz H.J., Bulman D.E., Katsanis N., Blacque O.E., Doherty D., Parboosingh J.S., Leroux M.R., Johnson C.A., Boycott K.M. Am. J. Hum. Genet. 89:713-730(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BBS6 ALA-57.
+	Additional computationally mapped references.

Web resources

Mutations of the MKKS gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF221992 mRNA. Translation: AAF73872.1. AF221993 mRNA. Translation: AAF73873.1. AK291925 mRNA. Translation: BAF84614.1. AL157427 mRNA. Translation: CAB75652.1. AL034430 Genomic DNA. Translation: CAC16847.1. CH471133 Genomic DNA. Translation: EAX10344.1. CH471133 Genomic DNA. Translation: EAX10345.1.
IPI	IPI00014939.
PIR	T46911.
RefSeq	NP_061336.1. NM_018848.3. NP_740754.1. NM_170784.2.
UniGene	Hs.472119. Hs.741430.
3D structure databases
ProteinModelPortal	Q9NPJ1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NPJ1. 11 interactions.
MINT	MINT-1429008.
STRING	9606.ENSP00000246062.
PTM databases
PhosphoSite	Q9NPJ1.
Polymorphism databases
DMDM	11133565.
Proteomic databases
PaxDb	Q9NPJ1.
PRIDE	Q9NPJ1.
Protocols and materials databases
DNASU	8195.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000347364; ENSP00000246062; ENSG00000125863. ENST00000399054; ENSP00000382008; ENSG00000125863.
GeneID	8195.
KEGG	hsa:8195.
UCSC	uc002wnt.1. human.
Organism-specific databases
CTD	8195.
GeneCards	GC20M010385.
HGNC	HGNC:7108. MKKS.
HPA	HPA041071. HPA044233.
MIM	209900. phenotype. 236700. phenotype. 604896. gene.
neXtProt	NX_Q9NPJ1.
Orphanet	110. Bardet-Biedl syndrome. 2377. Laurence-Moon syndrome. 2473. McKusick-Kaufman syndrome.
PharmGKB	PA30826.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0459.
HOGENOM	HOG000013131.
HOVERGEN	HBG005055.
InParanoid	Q9NPJ1.
KO	K09492.
OMA	SKPACML.
OrthoDB	EOG4GMTWK.
PhylomeDB	Q9NPJ1.
Gene expression databases
ArrayExpress	Q9NPJ1.
Bgee	Q9NPJ1.
CleanEx	HS_MKKS.
Genevestigator	Q9NPJ1.
GermOnline	ENSG00000125863. Homo sapiens.
Family and domain databases
InterPro	IPR002423. Cpn60/TCP-1. [Graphical view]
PANTHER	PTHR11353. PTHR11353. 1 hit.
Pfam	PF00118. Cpn60_TCP1. 1 hit. [Graphical view]
SUPFAM	SSF48592. GroEL-ATPase. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	MKKS. human.
GenomeRNAi	8195.
NextBio	30894.
SOURCE	Search...

Entry information

Entry name

MKKS_HUMAN

Accession

Primary (citable) accession number: Q9NPJ1
Secondary accession number(s): A8K7B0, D3DW18

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 119 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.