Gene description for MKS1
Gene name Meckel syndrome, type 1
Gene symbol MKS1
Other names/aliases BBS13
MES
MKS
POC12
Species Homo sapiens
 Database cross references - MKS1
ExoCarta ExoCarta_54903
Vesiclepedia VP_54903
Entrez Gene 54903
HGNC 7121
MIM 609883
UniProt Q9NXB0  
 MKS1 identified in sEVs derived from the following tissue/cell type
Bone marrow mesenchymal stem cells 36408942    
Bone marrow mesenchymal stem cells 36408942    
Bone marrow mesenchymal stem cells 36408942    
Bone marrow mesenchymal stem cells 36408942    
 Gene ontology annotations for MKS1
Molecular Function
    protein binding GO:0005515 IPI
Biological Process
    neural tube closure GO:0001843 IEA
    smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation GO:0003271 IEA
    determination of left/right symmetry GO:0007368 IEA
    regulation of smoothened signaling pathway GO:0008589 IEA
    epithelial structure maintenance GO:0010669 IEA
    embryonic digit morphogenesis GO:0042733 IEA
    motile cilium assembly GO:0044458 IEA
    embryonic skeletal system development GO:0048706 IEA
    branching morphogenesis of an epithelial tube GO:0048754 IEA
    inner ear receptor cell stereocilium organization GO:0060122 IEA
    cilium assembly GO:0060271 IBA
    cilium assembly GO:0060271 IMP
    cilium assembly GO:0060271 ISS
    head development GO:0060322 IEA
    cardiac septum morphogenesis GO:0060411 IEA
    regulation of canonical Wnt signaling pathway GO:0060828 IEA
    common bile duct development GO:0061009 IEA
    non-motile cilium assembly GO:1905515 IEA
    embryonic brain development GO:1990403 IEA
    regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 IEA
Subcellular Localization
    cytoplasm GO:0005737 IDA
    centrosome GO:0005813 IDA
    centriole GO:0005814 IEA
    cytosol GO:0005829 TAS
    membrane GO:0016020 IEA
    MKS complex GO:0036038 IBA
    MKS complex GO:0036038 ISS
    ciliary basal body GO:0036064 IDA
 Experiment description of studies that identified MKS1 in sEVs
1
Experiment ID 489
MISEV standards
✔
EM
Biophysical techniques
✔
Cd9|Cd81|Cd63|Gapdh|Sdcbp|Lamp1|Aqp1|Rab5a|Icam1|Cd82|Itga2b|Tsg101|Lamp2|Rab35|Flot1|Flot2|Cd151|Rab5b|Tfrc|Uchl1
Enriched markers
✔
Canx
Negative markers
✔
NTA
Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 36408942    
Organism Rattus norvegicus
Experiment description Quantitative proteomic analysis of exosomes from umbilical cord mesenchymal stem cells and rat bone marrow stem cells
Authors "Xu X, Yin F, Guo M, Gan G, Lin G, Wen C, Wang J, Song P, Wang J, Qi ZQ, Zhong CQ."
Journal name Proteomics
Publication year 2023
Sample Bone marrow mesenchymal stem cells
Sample name BMSC - Passage 6
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
2
Experiment ID 490
MISEV standards
✔
EM
Biophysical techniques
✔
Cd9|Cd81|Cd63|Gapdh|Sdcbp|Lamp1|Aqp1|Rab5a|Icam1|Cd82|Itga2b|Tsg101|Lamp2|Rab35|Flot1|Flot2|Cd151|Rab5b|Tfrc|Uchl1
Enriched markers
✔
Canx
Negative markers
✔
NTA
Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 36408942    
Organism Rattus norvegicus
Experiment description Quantitative proteomic analysis of exosomes from umbilical cord mesenchymal stem cells and rat bone marrow stem cells
Authors "Xu X, Yin F, Guo M, Gan G, Lin G, Wen C, Wang J, Song P, Wang J, Qi ZQ, Zhong CQ."
Journal name Proteomics
Publication year 2023
Sample Bone marrow mesenchymal stem cells
Sample name BMSC - Passage 7
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
3
Experiment ID 491
MISEV standards
✔
EM
Biophysical techniques
✔
Cd9|Cd81|Cd63|Gapdh|Sdcbp|Lamp1|Aqp1|Rab5a|Icam1|Cd82|Itga2b|Tsg101|Lamp2|Rab35|Flot1|Flot2|Cd151|Rab5b|Tfrc|Uchl1
Enriched markers
✔
Canx
Negative markers
✔
NTA
Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 36408942    
Organism Rattus norvegicus
Experiment description Quantitative proteomic analysis of exosomes from umbilical cord mesenchymal stem cells and rat bone marrow stem cells
Authors "Xu X, Yin F, Guo M, Gan G, Lin G, Wen C, Wang J, Song P, Wang J, Qi ZQ, Zhong CQ."
Journal name Proteomics
Publication year 2023
Sample Bone marrow mesenchymal stem cells
Sample name BMSC - Passage 8
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
4
Experiment ID 492
MISEV standards
✔
EM
Biophysical techniques
✔
Cd9|Cd81|Cd63|Gapdh|Sdcbp|Lamp1|Aqp1|Rab5a|Icam1|Cd82|Itga2b|Tsg101|Lamp2|Rab35|Flot1|Flot2|Cd151|Rab5b|Tfrc|Uchl1
Enriched markers
✔
Canx
Negative markers
✔
NTA
Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 36408942    
Organism Rattus norvegicus
Experiment description Quantitative proteomic analysis of exosomes from umbilical cord mesenchymal stem cells and rat bone marrow stem cells
Authors "Xu X, Yin F, Guo M, Gan G, Lin G, Wen C, Wang J, Song P, Wang J, Qi ZQ, Zhong CQ."
Journal name Proteomics
Publication year 2023
Sample Bone marrow mesenchymal stem cells
Sample name BMSC - Passage 9
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
 Protein-protein interactions for MKS1
  Protein Interactor ExoCarta ID Identification method PubMed Species
1 RNF34  
Biochemical Activity Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-MS Homo sapiens
2 CDC73  
Affinity Capture-MS Homo sapiens
3 IL17RA 23765
Affinity Capture-MS Homo sapiens
4 CCDC96  
Affinity Capture-MS Homo sapiens
5 POSTN 10631
Affinity Capture-MS Homo sapiens
6 LCN8  
Affinity Capture-MS Homo sapiens
7 NPAS1  
Affinity Capture-MS Homo sapiens
8 ADAMTS4  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
9 PPIAL4G  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
10 B9D1 27077
Affinity Capture-MS Homo sapiens
11 LIPH 200879
Affinity Capture-MS Homo sapiens
12 TCTN1  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
13 KLK5 25818
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
14 DOCK5 80005
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
15 R3HCC1L  
Affinity Capture-MS Homo sapiens
16 TSPYL6  
Affinity Capture-MS Homo sapiens
17 LOC100128554  
Affinity Capture-MS Homo sapiens
18 DNAJA2 10294
Affinity Capture-MS Homo sapiens
19 ENPP6 133121
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
20 CTNNB1 1499
Affinity Capture-Western Homo sapiens
21 BAG2 9532
Affinity Capture-MS Homo sapiens
22 PDDC1 347862
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
23 SYNE2 23224
Affinity Capture-Western Homo sapiens
24 TGM2 7052
Affinity Capture-MS Homo sapiens
25 XPO1 7514
Affinity Capture-MS Homo sapiens
26 SHMT2 6472
Affinity Capture-RNA Homo sapiens
27 SNX21  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
28 LGALS7 3963
Affinity Capture-MS Homo sapiens
29 C10orf91  
Affinity Capture-MS Homo sapiens
30 SSH3 54961
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
31 RAD51D  
Affinity Capture-MS Homo sapiens
32 C6orf141  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
33 PPP4R1L  
Affinity Capture-MS Homo sapiens
34 C12orf74  
Affinity Capture-MS Homo sapiens
35 CDC16 8881
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
36 RCCD1  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
37 LAGE3  
Affinity Capture-MS Homo sapiens
38 CRYBA4  
Affinity Capture-MS Homo sapiens
39 HNRNPH3 3189
Affinity Capture-MS Homo sapiens
40 DDX24 57062
Two-hybrid Homo sapiens
41 UBE2E1  
Reconstituted Complex Homo sapiens
Affinity Capture-Western Homo sapiens
Affinity Capture-MS Homo sapiens
42 TRIM35 23087
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
43 LGALS7B 653499
Affinity Capture-MS Homo sapiens
44 TCTN2  
Affinity Capture-MS Homo sapiens
45 THBS3 7059
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
46 TMEM231 79583
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
47 B9D2 80776
Affinity Capture-MS Homo sapiens
48 ENPP7 339221
Affinity Capture-MS Homo sapiens
49 KRT2 3849
Affinity Capture-MS Homo sapiens
50 GUSBP5  
Affinity Capture-MS Homo sapiens
51 ARPC5 10092
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
52 DDX58 23586
Affinity Capture-RNA Homo sapiens
53 C1orf115  
Affinity Capture-MS Homo sapiens
54 NSUN5P1  
Affinity Capture-MS Homo sapiens
55 CCDC136  
Affinity Capture-MS Homo sapiens
56 PSG8  
Affinity Capture-MS Homo sapiens
57 LRP1B 53353
Affinity Capture-MS Homo sapiens
58 CAPN2 824
Affinity Capture-MS Homo sapiens
View the network image/svg+xml



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