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Q9NPJ1 (MKKS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 131. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Alternative name(s):
Bardet-Biedl syndrome 6 protein
Gene names
Name:MKKS
Synonyms:BBS6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length570 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytosol. 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 processSensory transduction
Vision
   Cellular componentCytoplasm
Cytoskeleton
   Coding sequence diversityPolymorphism
   DiseaseBardet-Biedl syndrome
Ciliopathy
Disease mutation
Mental retardation
Obesity
   LigandATP-binding
Nucleotide-binding
   Molecular functionChaperone
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processartery smooth muscle contraction

Inferred from electronic annotation. Source: Ensembl

brain morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

cartilage development

Inferred from electronic annotation. Source: Ensembl

cerebral cortex development

Inferred from sequence or structural similarity. Source: BHF-UCL

chaperone-mediated protein complex assembly

Inferred from electronic annotation. Source: Ensembl

cilium assembly

Inferred from sequence or structural similarity. Source: BHF-UCL

cilium morphogenesis

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

determination of left/right symmetry

Inferred from sequence or structural similarity. Source: BHF-UCL

fat cell differentiation

Inferred from sequence or structural similarity. Source: BHF-UCL

gonad development

Traceable author statement Ref.1. Source: ProtInc

heart 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: Ensembl

negative regulation of gene expression

Inferred from electronic annotation. Source: Ensembl

nonmotile primary cilium assembly

Inferred from electronic annotation. Source: Ensembl

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: Ensembl

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

vasodilation

Inferred from electronic annotation. Source: Ensembl

visual perception

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcentrosome

Inferred from direct assay. Source: HPA

cytosol

Inferred from electronic annotation. Source: UniProtKB-SubCell

intracellular

Inferred from direct assay. Source: LIFEdb

motile cilium

Inferred from sequence or structural similarity. Source: BHF-UCL

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

RNA polymerase II repressing transcription factor binding

Inferred from physical interaction PubMed 22302990. Source: MGI

protein binding

Inferred from physical interaction Ref.7Ref.9. Source: UniProtKB

unfolded protein binding

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

BBS12Q6ZW6110EBI-721319,EBI-6128352
BBS2Q9BXC94EBI-721319,EBI-748297

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 570570McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
PRO_0000128415

Regions

Nucleotide binding192 – 1998ATP Potential
Region198 – 370173Substrate-binding apical domain

Natural variations

Natural variant321I → M in BBS6. Ref.12
VAR_017035
Natural variant371Y → 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 variant411G → R in BBS6. Ref.22
VAR_066262
Natural variant491G → V. Ref.1
VAR_009865
Natural variant521G → D in BBS6; fails to associate with centrosome. Ref.6 Ref.9 Ref.10
Corresponds to variant rs28937875 [ dbSNP | Ensembl ].
VAR_009882
Natural variant571T → 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 variant841H → 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 variant991C → R in BBS6. Ref.22
VAR_066263
Natural variant1551R → 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 variant1811A → P in BBS6. Ref.17
VAR_038898
Natural variant2361S → P in BBS6. Ref.9 Ref.12 Ref.15
VAR_017036
Natural variant2371T → A in BBS6. Ref.19
VAR_038899
Natural variant2371T → P in BBS6. Ref.18 Ref.19
VAR_038900
Natural variant2421A → 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 variant2771L → 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 variant2861D → A in BBS6; fails to associate with centrosome. Ref.6 Ref.12
VAR_017037
Natural variant2991P → L in BBS6. Ref.22
VAR_066264
Natural variant3251T → 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 variant3391I → V in BBS6. Ref.14 Ref.18 Ref.19
Corresponds to variant rs145342800 [ dbSNP | Ensembl ].
VAR_017041
Natural variant3451G → 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 variant4601S → P in BBS6. Ref.18
VAR_038902
Natural variant4881A → T in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS12; uncertain pathological role. Ref.22
Corresponds to variant rs61734546 [ dbSNP | Ensembl ].
VAR_066265
Natural variant4921D → N in BBS6. Ref.17
Corresponds to variant rs142327258 [ dbSNP | Ensembl ].
VAR_038903
Natural variant4991C → 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 variant5111S → A in BBS6. Ref.12
VAR_017038
Natural variant5171R → C. Ref.1 Ref.18 Ref.19 Ref.20
Corresponds to variant rs1547 [ dbSNP | Ensembl ].
VAR_009868
Natural variant5181R → H in BBS6. Ref.12
Corresponds to variant rs149051148 [ dbSNP | Ensembl ].
VAR_017039
Natural variant5321G → V. Ref.18 Ref.19 Ref.20
Corresponds to variant rs1545 [ dbSNP | Ensembl ].
VAR_009869

Sequences

Sequence LengthMass (Da)Tools
Q9NPJ1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 14BA57FF8AEA0AF7

FASTA57062,342
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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

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.
CCDSCCDS13111.1.
PIRT46911.
RefSeqNP_061336.1. NM_018848.3.
NP_740754.1. NM_170784.2.
UniGeneHs.472119.
Hs.741430.

3D structure databases

ProteinModelPortalQ9NPJ1.
SMRQ9NPJ1. Positions 29-476.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113837. 10 interactions.
DIPDIP-60349N.
IntActQ9NPJ1. 11 interactions.
MINTMINT-1429008.
STRING9606.ENSP00000246062.

PTM databases

PhosphoSiteQ9NPJ1.

Polymorphism databases

DMDM11133565.

Proteomic databases

PaxDbQ9NPJ1.
PRIDEQ9NPJ1.

Protocols and materials databases

DNASU8195.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000347364; ENSP00000246062; ENSG00000125863.
ENST00000399054; ENSP00000382008; ENSG00000125863.
GeneID8195.
KEGGhsa:8195.
UCSCuc002wnt.2. human.

Organism-specific databases

CTD8195.
GeneCardsGC20M010385.
GeneReviewsMKKS.
HGNCHGNC:7108. MKKS.
HPAHPA041071.
HPA044233.
MIM209900. phenotype.
236700. phenotype.
604896. gene.
neXtProtNX_Q9NPJ1.
Orphanet110. Bardet-Biedl syndrome.
2473. McKusick-Kaufman syndrome.
PharmGKBPA30826.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0459.
HOGENOMHOG000013131.
HOVERGENHBG005055.
InParanoidQ9NPJ1.
KOK09492.
OMASKPACML.
OrthoDBEOG7P02HK.
PhylomeDBQ9NPJ1.
TreeFamTF329106.

Gene expression databases

ArrayExpressQ9NPJ1.
BgeeQ9NPJ1.
CleanExHS_MKKS.
GenevestigatorQ9NPJ1.

Family and domain databases

Gene3D1.10.560.10. 3 hits.
3.50.7.10. 1 hit.
InterProIPR002423. Cpn60/TCP-1.
IPR027409. GroEL-like_apical_dom.
IPR027413. GROEL-like_equatorial.
IPR028790. MKKS.
[Graphical view]
PANTHERPTHR11353. PTHR11353. 1 hit.
PTHR11353:SF12. PTHR11353:SF12. 1 hit.
PfamPF00118. Cpn60_TCP1. 1 hit.
[Graphical view]
SUPFAMSSF48592. SSF48592. 2 hits.
SSF52029. SSF52029. 1 hit.
ProtoNetSearch...

Other

ChiTaRSMKKS. human.
GeneWikiMKKS.
GenomeRNAi8195.
NextBio30894.
PROQ9NPJ1.
SOURCESearch...

Entry information

Entry nameMKKS_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 131 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM