Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9NPJ1

- MKKS_HUMAN

UniProt

Q9NPJ1 - MKKS_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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

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. RNA polymerase II repressing transcription factor binding Source: MGI
  3. 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
Complete GO annotation...

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. cytoplasm Source: UniProtKB-KW
  3. intracellular Source: LIFEdb
  4. motile cilium Source: BHF-UCL
Complete GO annotation...

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

BgeeiQ9NPJ1.
CleanExiHS_MKKS.
ExpressionAtlasiQ9NPJ1. baseline and differential.
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. 11 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.
GeneTreeiENSGT00390000007214.
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 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSRLEAKKPS LCKSEPLTTE RVRTTLSVLK RIVTSCYGPS GRLKQLHNGF
60 70 80 90 100
GGYVCTTSQS SALLSHLLVT HPILKILTAS IQNHVSSFSD CGLFTAILCC
110 120 130 140 150
NLIENVQRLG LTPTTVIRLN KHLLSLCISY LKSETCGCRI PVDFSSTQIL
160 170 180 190 200
LCLVRSILTS KPACMLTRKE TEHVSALILR AFLLTIPENA EGHIILGKSL
210 220 230 240 250
IVPLKGQRVI DSTVLPGILI EMSEVQLMRL LPIKKSTALK VALFCTTLSG
260 270 280 290 300
DTSDTGEGTV VVSYGVSLEN AVLDQLLNLG RQLISDHVDL VLCQKVIHPS
310 320 330 340 350
LKQFLNMHRI IAIDRIGVTL MEPLTKMTGT QPIGSLGSIC PNSYGSVKDV
360 370 380 390 400
CTAKFGSKHF FHLIPNEATI CSLLLCNRND TAWDELKLTC QTALHVLQLT
410 420 430 440 450
LKEPWALLGG GCTETHLAAY IRHKTHNDPE SILKDDECTQ TELQLIAEAF
460 470 480 490 500
CSALESVVGS LEHDGGEILT DMKYGHLWSV QADSPCVANW PDLLSQCGCG
510 520 530 540 550
LYNSQEELNW SFLRSTRRPF VPQSCLPHEA VGSASNLTLD CLTAKLSGLQ
560 570
VAVETANLIL DLSYVIEDKN
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. 11 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.
GeneTreei ENSGT00390000007214.
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

Bgeei Q9NPJ1.
CleanExi HS_MKKS.
ExpressionAtlasi Q9NPJ1. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 133 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