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Protein

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

Gene

Mkks

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript 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 (By similarity). May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi192 – 199ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

  • artery smooth muscle contraction Source: MGI
  • brain morphogenesis Source: MGI
  • cartilage development Source: MGI
  • cerebral cortex development Source: MGI
  • chaperone-mediated protein complex assembly Source: MGI
  • cilium assembly Source: BHF-UCL
  • cilium morphogenesis Source: BHF-UCL
  • detection of mechanical stimulus involved in sensory perception of sound Source: MGI
  • face development Source: MGI
  • fat cell differentiation Source: BHF-UCL
  • hippocampus development Source: MGI
  • leptin-mediated signaling pathway Source: MGI
  • negative regulation of actin filament polymerization Source: MGI
  • negative regulation of appetite by leptin-mediated signaling pathway Source: BHF-UCL
  • negative regulation of blood pressure Source: MGI
  • negative regulation of gene expression Source: MGI
  • negative regulation of GTPase activity Source: MGI
  • non-motile cilium assembly Source: MGI
  • photoreceptor cell maintenance Source: MGI
  • positive regulation of multicellular organism growth Source: MGI
  • protein folding Source: InterPro
  • regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
  • regulation of stress fiber assembly Source: MGI
  • response to leptin Source: MGI
  • sensory perception of smell Source: MGI
  • social behavior Source: MGI
  • spermatid development Source: MGI
  • striatum development Source: MGI
  • vasodilation Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Alternative name(s):
Protein Bbs6 homolog
Gene namesi
Name:Mkks
Synonyms:Bbs6
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 2

Organism-specific databases

MGIiMGI:1891836. Mkks.

Subcellular locationi

  • Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity
  • Cytoplasmcytosol By similarity

  • 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 (By similarity).By similarity

GO - Cellular componenti

  • centrosome Source: MGI
  • ciliary basal body Source: MGI
  • cytosol Source: UniProtKB-SubCell
  • intracellular Source: MGI
  • kinociliary basal body Source: MGI
  • motile cilium Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Disruption phenotypei

Mice demonstrate retinal degeneration, failure of spermatozoa flagella formation, elevated blood pressure, olfactory deficits, and social dominance, but no polydactyly nor vaginal abnormalities. The phenotype closely resembles the phenotype of other mouse models of Bardet-Biedl syndrome (Bbs2 deficient and Bbs4 deficient). Obesity is associated with hyperleptinemia and resistance to the anorectic and weight-reducing effects of leptin. Although mice are resistant to the metabolic actions of leptin, mice remain responsive to the effects of leptin on renal sympathetic nerve activity and arterial pressure and develop hypertension. BBS mice have decreased hypothalamic expression of proopiomelanocortin (POMC). BBS genes play an important role in maintaining leptin sensitivity in POMC neurons.2 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001284161 – 570McKusick-Kaufman/Bardet-Biedl syndromes putative chaperoninAdd BLAST570

Proteomic databases

PaxDbiQ9JI70.
PRIDEiQ9JI70.

PTM databases

PhosphoSitePlusiQ9JI70.

Expressioni

Tissue specificityi

Widely expressed in adult and fetal tissues. Expressed in the developing heart, brain retina, limb buds, as well as in the developing neural tube. Expressed in the embryo in the first and second branchial arches. Expressed in parafin embedded tissue sections of brain, kidney, retina, olfactory epithelium and the ependymal layer of ventricles. Detected only in restricted regions of these tissue sections, including the ciliated border of renal tubules, the connecting cilium and the inner and outer nuclear layers of retina, and the ciliated layer of olfactory epithelia.1 Publication

Gene expression databases

BgeeiENSMUSG00000027274.
CleanExiMM_MKKS.
GenevisibleiQ9JI70. MM.

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.By similarity

GO - Molecular functioni

Protein-protein interaction databases

DIPiDIP-60355N.
IntActiQ9JI70. 5 interactors.
STRINGi10090.ENSMUSP00000028730.

Structurei

3D structure databases

ProteinModelPortaliQ9JI70.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TCP-1 chaperonin family.Curated

Phylogenomic databases

eggNOGiKOG0360. Eukaryota.
COG0459. LUCA.
GeneTreeiENSGT00390000007214.
HOGENOMiHOG000013131.
HOVERGENiHBG005055.
InParanoidiQ9JI70.
KOiK09492.
OMAiTSKPACM.
OrthoDBiEOG091G0VW9.
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:SF77. PTHR11353:SF77. 2 hits.
PfamiPF00118. Cpn60_TCP1. 1 hit.
[Graphical view]
SUPFAMiSSF52029. SSF52029. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9JI70-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSRLEAKKPS LCKTEPLTSE KVRSTLSVLK GVIASCYGPS GRLKQLHNGL
60 70 80 90 100
GGCVYTTSQS SALLRNLSVT HPVLKILTSS VQNHVSCFSD CGLFTAILCC
110 120 130 140 150
NLIENIQRLD LTPATAIKLN KYLLSLCTSY LKSEACSCRI PVDFRSTHTF
160 170 180 190 200
LSLVHSILTS KPACMLTRKE TDHIGALILK AFLLTIPEST EERMVLGKSI
210 220 230 240 250
IVPLKGQRVT DSTVLPGLLI EASEVQLRRL LPTQKASGLR VALFCTSLSG
260 270 280 290 300
DFSNAGEGVV VAHYQVSLEN AVLEQLLNLG RRLVTDHVDL VLCQKVIHPS
310 320 330 340 350
LKQFFSERHV MAIDRVGVTL MESLSKVTGA TPIGSLNPIV STTYGSVKDV
360 370 380 390 400
CSARFGSKHF FHLLPNEATV CTLLLCSRND TAWEELKLTC QTAMHVLQLT
410 420 430 440 450
IKEPWVLLGG GCTETHLAAY VRHKVHHEAE AIVRDDGCTQ AKLHVAAEAF
460 470 480 490 500
CSALESVAGS LEHDGGEILI DTKYGHLWSC QADSASVGNW SDTLSRCGCG
510 520 530 540 550
LYNSQEELSW SVLRSTYHPF APQTCLPQAA LGSASNLTVD CFTAKLSGLQ
560 570
VAVETANLIL DLSYVIEDKN
Length:570
Mass (Da):61,924
Last modified:July 27, 2011 - v2
Checksum:i7E2AA28D43028800
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti302K → R in AAF73965 (PubMed:10802661).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF254074 mRNA. Translation: AAF73965.1.
AK032528 mRNA. Translation: BAC27912.1.
AK032554 mRNA. Translation: BAC27921.1.
AL731706 Genomic DNA. Translation: CAM17283.1.
BC117836 mRNA. Translation: AAI17837.1.
CCDSiCCDS16794.1.
RefSeqiNP_001135418.1. NM_001141946.1.
NP_067502.2. NM_021527.2.
XP_006500033.1. XM_006499970.1.
XP_011238023.1. XM_011239721.1.
UniGeneiMm.272570.

Genome annotation databases

EnsembliENSMUST00000028730; ENSMUSP00000028730; ENSMUSG00000027274.
ENSMUST00000110089; ENSMUSP00000105716; ENSMUSG00000027274.
GeneIDi59030.
KEGGimmu:59030.
UCSCiuc008moq.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF254074 mRNA. Translation: AAF73965.1.
AK032528 mRNA. Translation: BAC27912.1.
AK032554 mRNA. Translation: BAC27921.1.
AL731706 Genomic DNA. Translation: CAM17283.1.
BC117836 mRNA. Translation: AAI17837.1.
CCDSiCCDS16794.1.
RefSeqiNP_001135418.1. NM_001141946.1.
NP_067502.2. NM_021527.2.
XP_006500033.1. XM_006499970.1.
XP_011238023.1. XM_011239721.1.
UniGeneiMm.272570.

3D structure databases

ProteinModelPortaliQ9JI70.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

DIPiDIP-60355N.
IntActiQ9JI70. 5 interactors.
STRINGi10090.ENSMUSP00000028730.

PTM databases

PhosphoSitePlusiQ9JI70.

Proteomic databases

PaxDbiQ9JI70.
PRIDEiQ9JI70.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000028730; ENSMUSP00000028730; ENSMUSG00000027274.
ENSMUST00000110089; ENSMUSP00000105716; ENSMUSG00000027274.
GeneIDi59030.
KEGGimmu:59030.
UCSCiuc008moq.2. mouse.

Organism-specific databases

CTDi8195.
MGIiMGI:1891836. Mkks.

Phylogenomic databases

eggNOGiKOG0360. Eukaryota.
COG0459. LUCA.
GeneTreeiENSGT00390000007214.
HOGENOMiHOG000013131.
HOVERGENiHBG005055.
InParanoidiQ9JI70.
KOiK09492.
OMAiTSKPACM.
OrthoDBiEOG091G0VW9.
TreeFamiTF329106.

Miscellaneous databases

ChiTaRSiMkks. mouse.
PROiQ9JI70.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000027274.
CleanExiMM_MKKS.
GenevisibleiQ9JI70. MM.

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:SF77. PTHR11353:SF77. 2 hits.
PfamiPF00118. Cpn60_TCP1. 1 hit.
[Graphical view]
SUPFAMiSSF52029. SSF52029. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiMKKS_MOUSE
AccessioniPrimary (citable) accession number: Q9JI70
Secondary accession number(s): Q8BGQ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: July 27, 2011
Last modified: November 30, 2016
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.