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Protein

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

Gene

Mkks

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (By similarity). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:28753627). May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (By similarity).By similarity1 Publication

Regions

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChaperone
LigandATP-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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 2

Organism-specific databases

MGIiMGI:1891836 Mkks

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

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

iPTMnetiQ9JI70
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 Expressed in 270 organ(s), highest expression level in facial nucleus
CleanExiMM_MKKS
GenevisibleiQ9JI70 MM

Interactioni

Subunit structurei

Component of a 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. Interacts with BBS12. Interacts with SMARCC1, a component of the SWI/SNF complexes; the interaction takes place predominantly in the cytoplasm and may modulate SMARCC1 location.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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni198 – 370Substrate-binding apical domainBy similarityAdd BLAST173

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, 1 hit
3.30.260.10, 1 hit
3.50.7.10, 1 hit
InterProiView protein in InterPro
IPR002423 Cpn60/TCP-1
IPR027409 GroEL-like_apical_dom_sf
IPR027413 GROEL-like_equatorial_sf
IPR028790 MKKS
IPR027410 TCP-1-like_intermed_sf
PANTHERiPTHR11353:SF77 PTHR11353:SF77, 1 hit
PfamiView protein in Pfam
PF00118 Cpn60_TCP1, 1 hit
SUPFAMiSSF48592 SSF48592, 1 hit
SSF52029 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 No translation available.
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

Similar proteinsi

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 No translation available.
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

iPTMnetiQ9JI70
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
PROiPR:Q9JI70
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000027274 Expressed in 270 organ(s), highest expression level in facial nucleus
CleanExiMM_MKKS
GenevisibleiQ9JI70 MM

Family and domain databases

Gene3Di1.10.560.10, 1 hit
3.30.260.10, 1 hit
3.50.7.10, 1 hit
InterProiView protein in InterPro
IPR002423 Cpn60/TCP-1
IPR027409 GroEL-like_apical_dom_sf
IPR027413 GROEL-like_equatorial_sf
IPR028790 MKKS
IPR027410 TCP-1-like_intermed_sf
PANTHERiPTHR11353:SF77 PTHR11353:SF77, 1 hit
PfamiView protein in Pfam
PF00118 Cpn60_TCP1, 1 hit
SUPFAMiSSF48592 SSF48592, 1 hit
SSF52029 SSF52029, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMKKS_MOUSE
AccessioniPrimary (citable) accession number: Q9JI70
Secondary accession number(s): Q8BGQ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: July 27, 2011
Last modified: November 7, 2018
This is version 128 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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