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Q9NPJ1

- MKKS_HUMAN

UniProt

Q9NPJ1 - MKKS_HUMAN

Protein

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

Gene

MKKS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    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.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi192 – 1998ATPSequence Analysis

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. protein binding Source: UniProtKB
    3. RNA polymerase II repressing transcription factor binding Source: MGI
    4. unfolded protein binding Source: ProtInc

    GO - Biological processi

    1. artery smooth muscle contraction Source: Ensembl
    2. brain morphogenesis Source: BHF-UCL
    3. cartilage development Source: Ensembl
    4. cerebral cortex development Source: BHF-UCL
    5. chaperone-mediated protein complex assembly Source: Ensembl
    6. cilium assembly Source: BHF-UCL
    7. cilium morphogenesis Source: BHF-UCL
    8. convergent extension involved in gastrulation Source: BHF-UCL
    9. detection of mechanical stimulus involved in sensory perception of sound Source: BHF-UCL
    10. determination of left/right symmetry Source: BHF-UCL
    11. fat cell differentiation Source: BHF-UCL
    12. gonad development Source: ProtInc
    13. heart development Source: ProtInc
    14. heart looping Source: BHF-UCL
    15. hippocampus development Source: BHF-UCL
    16. intracellular transport Source: BHF-UCL
    17. melanosome transport Source: BHF-UCL
    18. negative regulation of appetite by leptin-mediated signaling pathway Source: BHF-UCL
    19. negative regulation of blood pressure Source: Ensembl
    20. negative regulation of gene expression Source: Ensembl
    21. nonmotile primary cilium assembly Source: Ensembl
    22. photoreceptor cell maintenance Source: BHF-UCL
    23. pigment granule aggregation in cell center Source: BHF-UCL
    24. positive regulation of multicellular organism growth Source: Ensembl
    25. protein folding Source: ProtInc
    26. regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
    27. sensory perception of smell Source: BHF-UCL
    28. social behavior Source: BHF-UCL
    29. spermatid development Source: BHF-UCL
    30. striatum development Source: BHF-UCL
    31. vasodilation Source: Ensembl
    32. visual perception Source: UniProtKB-KW

    Keywords - Molecular functioni

    Chaperone

    Keywords - Biological processi

    Sensory transduction, Vision

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
    Alternative name(s):
    Bardet-Biedl syndrome 6 protein
    Gene namesi
    Name:MKKS
    Synonyms:BBS6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:7108. MKKS.

    Subcellular locationi

    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.

    GO - Cellular componenti

    1. centrosome Source: HPA
    2. cytosol Source: UniProtKB-SubCell
    3. intracellular Source: LIFEdb
    4. motile cilium Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    McKusick-Kaufman syndrome (MKKS) [MIM:236700]: Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti37 – 371Y → 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. 3 Publications
    Corresponds to variant rs74315396 [ dbSNP | Ensembl ].
    VAR_009864
    Natural varianti57 – 571T → 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. 3 Publications
    Corresponds to variant rs74315399 [ dbSNP | Ensembl ].
    VAR_009883
    Natural varianti84 – 841H → Y in MKKS; associated with S-242; may interfere with ATP hydrolysis. 1 Publication
    Corresponds to variant rs74315395 [ dbSNP | Ensembl ].
    VAR_009866
    Natural varianti155 – 1551R → L in BBS6; increases MKKS protein degradation only; localizes properly to the centrosome. 1 Publication
    Corresponds to variant rs138111422 [ dbSNP | Ensembl ].
    VAR_017040
    Natural varianti242 – 2421A → S in MKKS and BBS6; associated with Y-84 in MKKS; rare polymorphism with uncertain pathological role; increases MKKS protein degradation. 6 Publications
    Corresponds to variant rs74315394 [ dbSNP | Ensembl ].
    VAR_009867
    Natural varianti345 – 3451G → 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. 1 Publication
    VAR_017042
    Natural varianti499 – 4991C → 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. 2 Publications
    Corresponds to variant rs74315400 [ dbSNP | Ensembl ].
    VAR_013161
    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.11 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti32 – 321I → M in BBS6. 1 Publication
    VAR_017035
    Natural varianti37 – 371Y → 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. 3 Publications
    Corresponds to variant rs74315396 [ dbSNP | Ensembl ].
    VAR_009864
    Natural varianti41 – 411G → R in BBS6. 1 Publication
    VAR_066262
    Natural varianti52 – 521G → D in BBS6; fails to associate with centrosome. 1 Publication
    Corresponds to variant rs28937875 [ dbSNP | Ensembl ].
    VAR_009882
    Natural varianti57 – 571T → 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. 3 Publications
    Corresponds to variant rs74315399 [ dbSNP | Ensembl ].
    VAR_009883
    Natural varianti99 – 991C → R in BBS6. 1 Publication
    VAR_066263
    Natural varianti155 – 1551R → L in BBS6; increases MKKS protein degradation only; localizes properly to the centrosome. 1 Publication
    Corresponds to variant rs138111422 [ dbSNP | Ensembl ].
    VAR_017040
    Natural varianti181 – 1811A → P in BBS6. 1 Publication
    VAR_038898
    Natural varianti236 – 2361S → P in BBS6. 2 Publications
    VAR_017036
    Natural varianti237 – 2371T → A in BBS6. 1 Publication
    VAR_038899
    Natural varianti237 – 2371T → P in BBS6. 2 Publications
    VAR_038900
    Natural varianti242 – 2421A → S in MKKS and BBS6; associated with Y-84 in MKKS; rare polymorphism with uncertain pathological role; increases MKKS protein degradation. 6 Publications
    Corresponds to variant rs74315394 [ dbSNP | Ensembl ].
    VAR_009867
    Natural varianti277 – 2771L → P in BBS6; moderately affects interaction with BBS2; greatly reduces the ability to interact with BBS12. 1 Publication
    Corresponds to variant rs74315398 [ dbSNP | Ensembl ].
    VAR_009884
    Natural varianti286 – 2861D → A in BBS6; fails to associate with centrosome. 1 Publication
    VAR_017037
    Natural varianti299 – 2991P → L in BBS6. 1 Publication
    VAR_066264
    Natural varianti339 – 3391I → V in BBS6. 3 Publications
    Corresponds to variant rs145342800 [ dbSNP | Ensembl ].
    VAR_017041
    Natural varianti345 – 3451G → 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. 1 Publication
    VAR_017042
    Natural varianti460 – 4601S → P in BBS6. 1 Publication
    VAR_038902
    Natural varianti492 – 4921D → N in BBS6. 1 Publication
    Corresponds to variant rs142327258 [ dbSNP | Ensembl ].
    VAR_038903
    Natural varianti499 – 4991C → 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. 2 Publications
    Corresponds to variant rs74315400 [ dbSNP | Ensembl ].
    VAR_013161
    Natural varianti511 – 5111S → A in BBS6. 1 Publication
    VAR_017038
    Natural varianti518 – 5181R → H in BBS6. 1 Publication
    Corresponds to variant rs149051148 [ dbSNP | Ensembl ].
    VAR_017039

    Keywords - Diseasei

    Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

    Organism-specific databases

    MIMi209900. phenotype.
    236700. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.
    2473. McKusick-Kaufman syndrome.
    PharmGKBiPA30826.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 570570McKusick-Kaufman/Bardet-Biedl syndromes putative chaperoninPRO_0000128415Add
    BLAST

    Proteomic databases

    PaxDbiQ9NPJ1.
    PRIDEiQ9NPJ1.

    PTM databases

    PhosphoSiteiQ9NPJ1.

    Expressioni

    Tissue specificityi

    Widely expressed in adult and fetal tissues.

    Gene expression databases

    ArrayExpressiQ9NPJ1.
    BgeeiQ9NPJ1.
    CleanExiHS_MKKS.
    GenevestigatoriQ9NPJ1.

    Organism-specific databases

    HPAiHPA041071.
    HPA044233.

    Interactioni

    Subunit structurei

    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.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BBS12Q6ZW6110EBI-721319,EBI-6128352
    BBS2Q9BXC94EBI-721319,EBI-748297

    Protein-protein interaction databases

    BioGridi113837. 10 interactions.
    DIPiDIP-60349N.
    IntActiQ9NPJ1. 11 interactions.
    MINTiMINT-1429008.
    STRINGi9606.ENSP00000246062.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NPJ1.
    SMRiQ9NPJ1. Positions 29-476.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni198 – 370173Substrate-binding apical domainAdd
    BLAST

    Domaini

    The substrate-binding apical domain region is sufficient for centrosomal association.

    Sequence similaritiesi

    Belongs to the TCP-1 chaperonin family.Curated

    Phylogenomic databases

    eggNOGiCOG0459.
    HOGENOMiHOG000013131.
    HOVERGENiHBG005055.
    InParanoidiQ9NPJ1.
    KOiK09492.
    OMAiSKPACML.
    OrthoDBiEOG7P02HK.
    PhylomeDBiQ9NPJ1.
    TreeFamiTF329106.

    Family and domain databases

    Gene3Di1.10.560.10. 3 hits.
    3.50.7.10. 1 hit.
    InterProiIPR002423. Cpn60/TCP-1.
    IPR027409. GroEL-like_apical_dom.
    IPR027413. GROEL-like_equatorial.
    IPR028790. MKKS.
    [Graphical view]
    PANTHERiPTHR11353. PTHR11353. 1 hit.
    PTHR11353:SF12. PTHR11353:SF12. 1 hit.
    PfamiPF00118. Cpn60_TCP1. 1 hit.
    [Graphical view]
    SUPFAMiSSF48592. SSF48592. 2 hits.
    SSF52029. SSF52029. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9NPJ1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSRLEAKKPS LCKSEPLTTE RVRTTLSVLK RIVTSCYGPS GRLKQLHNGF    50
    GGYVCTTSQS SALLSHLLVT HPILKILTAS IQNHVSSFSD CGLFTAILCC 100
    NLIENVQRLG LTPTTVIRLN KHLLSLCISY LKSETCGCRI PVDFSSTQIL 150
    LCLVRSILTS KPACMLTRKE TEHVSALILR AFLLTIPENA EGHIILGKSL 200
    IVPLKGQRVI DSTVLPGILI EMSEVQLMRL LPIKKSTALK VALFCTTLSG 250
    DTSDTGEGTV VVSYGVSLEN AVLDQLLNLG RQLISDHVDL VLCQKVIHPS 300
    LKQFLNMHRI IAIDRIGVTL MEPLTKMTGT QPIGSLGSIC PNSYGSVKDV 350
    CTAKFGSKHF FHLIPNEATI CSLLLCNRND TAWDELKLTC QTALHVLQLT 400
    LKEPWALLGG GCTETHLAAY IRHKTHNDPE SILKDDECTQ TELQLIAEAF 450
    CSALESVVGS LEHDGGEILT DMKYGHLWSV QADSPCVANW PDLLSQCGCG 500
    LYNSQEELNW SFLRSTRRPF VPQSCLPHEA VGSASNLTLD CLTAKLSGLQ 550
    VAVETANLIL DLSYVIEDKN 570
    Length:570
    Mass (Da):62,342
    Last modified:October 1, 2000 - v1
    Checksum:i14BA57FF8AEA0AF7
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti32 – 321I → M in BBS6. 1 Publication
    VAR_017035
    Natural varianti37 – 371Y → 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. 3 Publications
    Corresponds to variant rs74315396 [ dbSNP | Ensembl ].
    VAR_009864
    Natural varianti41 – 411G → R in BBS6. 1 Publication
    VAR_066262
    Natural varianti49 – 491G → V.1 Publication
    VAR_009865
    Natural varianti52 – 521G → D in BBS6; fails to associate with centrosome. 1 Publication
    Corresponds to variant rs28937875 [ dbSNP | Ensembl ].
    VAR_009882
    Natural varianti57 – 571T → 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. 3 Publications
    Corresponds to variant rs74315399 [ dbSNP | Ensembl ].
    VAR_009883
    Natural varianti84 – 841H → Y in MKKS; associated with S-242; may interfere with ATP hydrolysis. 1 Publication
    Corresponds to variant rs74315395 [ dbSNP | Ensembl ].
    VAR_009866
    Natural varianti99 – 991C → R in BBS6. 1 Publication
    VAR_066263
    Natural varianti155 – 1551R → L in BBS6; increases MKKS protein degradation only; localizes properly to the centrosome. 1 Publication
    Corresponds to variant rs138111422 [ dbSNP | Ensembl ].
    VAR_017040
    Natural varianti181 – 1811A → P in BBS6. 1 Publication
    VAR_038898
    Natural varianti236 – 2361S → P in BBS6. 2 Publications
    VAR_017036
    Natural varianti237 – 2371T → A in BBS6. 1 Publication
    VAR_038899
    Natural varianti237 – 2371T → P in BBS6. 2 Publications
    VAR_038900
    Natural varianti242 – 2421A → S in MKKS and BBS6; associated with Y-84 in MKKS; rare polymorphism with uncertain pathological role; increases MKKS protein degradation. 6 Publications
    Corresponds to variant rs74315394 [ dbSNP | Ensembl ].
    VAR_009867
    Natural varianti277 – 2771L → P in BBS6; moderately affects interaction with BBS2; greatly reduces the ability to interact with BBS12. 1 Publication
    Corresponds to variant rs74315398 [ dbSNP | Ensembl ].
    VAR_009884
    Natural varianti286 – 2861D → A in BBS6; fails to associate with centrosome. 1 Publication
    VAR_017037
    Natural varianti299 – 2991P → L in BBS6. 1 Publication
    VAR_066264
    Natural varianti325 – 3251T → P Has a modifier effect on BBS; causes a mislocalization of the protein; fails to associate with centrosome. 2 Publications
    Corresponds to variant rs137853156 [ dbSNP | Ensembl ].
    VAR_038901
    Natural varianti339 – 3391I → V in BBS6. 3 Publications
    Corresponds to variant rs145342800 [ dbSNP | Ensembl ].
    VAR_017041
    Natural varianti345 – 3451G → 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. 1 Publication
    VAR_017042
    Natural varianti460 – 4601S → P in BBS6. 1 Publication
    VAR_038902
    Natural varianti488 – 4881A → T in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS12; uncertain pathological role. 1 Publication
    Corresponds to variant rs61734546 [ dbSNP | Ensembl ].
    VAR_066265
    Natural varianti492 – 4921D → N in BBS6. 1 Publication
    Corresponds to variant rs142327258 [ dbSNP | Ensembl ].
    VAR_038903
    Natural varianti499 – 4991C → 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. 2 Publications
    Corresponds to variant rs74315400 [ dbSNP | Ensembl ].
    VAR_013161
    Natural varianti511 – 5111S → A in BBS6. 1 Publication
    VAR_017038
    Natural varianti517 – 5171R → C.4 Publications
    Corresponds to variant rs1547 [ dbSNP | Ensembl ].
    VAR_009868
    Natural varianti518 – 5181R → H in BBS6. 1 Publication
    Corresponds to variant rs149051148 [ dbSNP | Ensembl ].
    VAR_017039
    Natural varianti532 – 5321G → V.3 Publications
    Corresponds to variant rs1545 [ dbSNP | Ensembl ].
    VAR_009869

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS13111.1.
    PIRiT46911.
    RefSeqiNP_061336.1. NM_018848.3.
    NP_740754.1. NM_170784.2.
    UniGeneiHs.472119.
    Hs.741430.

    Genome annotation databases

    EnsembliENST00000347364; ENSP00000246062; ENSG00000125863.
    ENST00000399054; ENSP00000382008; ENSG00000125863.
    GeneIDi8195.
    KEGGihsa:8195.
    UCSCiuc002wnt.2. human.

    Polymorphism databases

    DMDMi11133565.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the MKKS gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS13111.1.
    PIRi T46911.
    RefSeqi NP_061336.1. NM_018848.3.
    NP_740754.1. NM_170784.2.
    UniGenei Hs.472119.
    Hs.741430.

    3D structure databases

    ProteinModelPortali Q9NPJ1.
    SMRi Q9NPJ1. Positions 29-476.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113837. 10 interactions.
    DIPi DIP-60349N.
    IntActi Q9NPJ1. 11 interactions.
    MINTi MINT-1429008.
    STRINGi 9606.ENSP00000246062.

    PTM databases

    PhosphoSitei Q9NPJ1.

    Polymorphism databases

    DMDMi 11133565.

    Proteomic databases

    PaxDbi Q9NPJ1.
    PRIDEi Q9NPJ1.

    Protocols and materials databases

    DNASUi 8195.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000347364 ; ENSP00000246062 ; ENSG00000125863 .
    ENST00000399054 ; ENSP00000382008 ; ENSG00000125863 .
    GeneIDi 8195.
    KEGGi hsa:8195.
    UCSCi uc002wnt.2. human.

    Organism-specific databases

    CTDi 8195.
    GeneCardsi GC20M010385.
    GeneReviewsi MKKS.
    HGNCi HGNC:7108. MKKS.
    HPAi HPA041071.
    HPA044233.
    MIMi 209900. phenotype.
    236700. phenotype.
    604896. gene.
    neXtProti NX_Q9NPJ1.
    Orphaneti 110. Bardet-Biedl syndrome.
    2473. McKusick-Kaufman syndrome.
    PharmGKBi PA30826.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0459.
    HOGENOMi HOG000013131.
    HOVERGENi HBG005055.
    InParanoidi Q9NPJ1.
    KOi K09492.
    OMAi SKPACML.
    OrthoDBi EOG7P02HK.
    PhylomeDBi Q9NPJ1.
    TreeFami TF329106.

    Miscellaneous databases

    ChiTaRSi MKKS. human.
    GeneWikii MKKS.
    GenomeRNAii 8195.
    NextBioi 30894.
    PROi Q9NPJ1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NPJ1.
    Bgeei Q9NPJ1.
    CleanExi HS_MKKS.
    Genevestigatori Q9NPJ1.

    Family and domain databases

    Gene3Di 1.10.560.10. 3 hits.
    3.50.7.10. 1 hit.
    InterProi IPR002423. Cpn60/TCP-1.
    IPR027409. GroEL-like_apical_dom.
    IPR027413. GROEL-like_equatorial.
    IPR028790. MKKS.
    [Graphical view ]
    PANTHERi PTHR11353. PTHR11353. 1 hit.
    PTHR11353:SF12. PTHR11353:SF12. 1 hit.
    Pfami PF00118. Cpn60_TCP1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48592. SSF48592. 2 hits.
    SSF52029. SSF52029. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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. 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. 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. 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. 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. 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. Cited for: VARIANTS BBS6 PRO-237; VAL-339 AND PRO-460, VARIANTS CYS-517 AND VAL-532.
    19. Cited for: VARIANTS BBS6 ALA-237; PRO-237 AND VAL-339, VARIANTS CYS-517 AND VAL-532.
    20. 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. Cited for: VARIANTS BBS6 ARG-41; ARG-99 AND LEU-299, VARIANT THR-488.
    23. Cited for: VARIANT BBS6 ALA-57.

    Entry informationi

    Entry nameiMKKS_HUMAN
    AccessioniPrimary (citable) accession number: Q9NPJ1
    Secondary accession number(s): A8K7B0, D3DW18
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 132 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3