Gene description for SMCHD1
Gene name structural maintenance of chromosomes flexible hinge domain containing 1
Gene symbol SMCHD1
Other names/aliases -
Species Homo sapiens
 Database cross references - SMCHD1
ExoCarta ExoCarta_23347
Vesiclepedia VP_23347
Entrez Gene 23347
HGNC 29090
MIM 614982
UniProt A6NHR9  
 SMCHD1 identified in exosomes 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    
Chondrocytes 35931686    
Chondrocytes 35931686    
Colorectal cancer cells 23161513    
Colorectal cancer cells 23161513    
Colorectal cancer cells 23161513    
Hepatocellular carcinoma cells 26054723    
Mesenchymal stem cells 36408942    
Thymus 23844026    
 Gene ontology annotations for SMCHD1
Molecular Function
    DNA binding GO:0003677 IEA
    DNA clamp loader activity GO:0003689 IEA
    protein binding GO:0005515 IPI
    ATP binding GO:0005524 IEA
    ATP hydrolysis activity GO:0016887 ISS
    protein homodimerization activity GO:0042803 ISS
    cohesin loader activity GO:0061775 IEA
    chromatin extrusion motor activity GO:0140584 IEA
    ATP-dependent H3-H4 histone complex chaperone activity GO:0140665 IEA
    ATP-dependent H2AZ histone chaperone activity GO:0140849 IEA
Biological Process
    double-strand break repair GO:0006302 IEA
    dosage compensation by inactivation of X chromosome GO:0009048 IDA
    nose development GO:0043584 IMP
    positive regulation of DNA repair GO:0045739 IMP
    chromosome organization GO:0051276 IEA
    chromatin looping GO:0140588 IEA
    negative regulation of double-strand break repair via homologous recombination GO:2000042 IMP
    positive regulation of double-strand break repair via nonhomologous end joining GO:2001034 IMP
Subcellular Localization
    chromosome, telomeric region GO:0000781 IDA
    Barr body GO:0001740 IBA
    Barr body GO:0001740 IDA
    site of double-strand break GO:0035861 IDA
 Experiment description of studies that identified SMCHD1 in exosomes
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
5
Experiment ID 497
MISEV standards
✘ Biophysical techniques
✔
CD9|CD151|CD63|CD81|CD82|FLOT1|FLOT2|GAPDH|LAMP1|LAMP2|RAB5A|SDCBP|TFRC|TSG101|UCHL1
Enriched markers
✘ Negative markers
✔
NTA
Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 35931686    
Organism Homo sapiens
Experiment description Extracellular vesicles enriched in connexin 43 promote a senescent phenotype in bone and synovial cells contributing to osteoarthritis progression
Authors "Varela-Eirín M, Carpintero-Fernández P, Guitián-Caamaño A, Varela-Vázquez A, García-Yuste A, Sánchez-Temprano A, Bravo-López SB, Yañez-Cabanas J, Fonseca E, Largo R, Mobasheri A, Caeiro JR, Mayán MD."
Journal name Cell Death Dis
Publication year 2022
Sample Chondrocytes
Sample name T/C-28a2
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
6
Experiment ID 498
MISEV standards
✔
EM
Biophysical techniques
✔
CD9|CD151|CD63|CD81|CD82|FLOT1|FLOT2|GAPDH|LAMP1|LAMP2|RAB5A|SDCBP|TFRC|TSG101|UCHL1
Enriched markers
✘ Negative markers
✔
NTA
Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 35931686    
Organism Homo sapiens
Experiment description Extracellular vesicles enriched in connexin 43 promote a senescent phenotype in bone and synovial cells contributing to osteoarthritis progression
Authors "Varela-Eirín M, Carpintero-Fernández P, Guitián-Caamaño A, Varela-Vázquez A, García-Yuste A, Sánchez-Temprano A, Bravo-López SB, Yañez-Cabanas J, Fonseca E, Largo R, Mobasheri A, Caeiro JR, Mayán MD."
Journal name Cell Death Dis
Publication year 2022
Sample Chondrocytes
Sample name T/C-28a2
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
7
Experiment ID 207
MISEV standards
✔
EM
Biophysical techniques
✔
TSG101|HSP70|FLOT1
Enriched markers
✔
VDAC
Negative markers
✔
NTA
Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 23161513    
Organism Homo sapiens
Experiment description Proteomic analysis of exosomes from mutant KRAS colon cancer cells identifies intercellular transfer of mutant KRAS.
Authors "Demory Beckler M, Higginbotham JN, Franklin JL, Ham AJ, Halvey PJ, Imasuen IE, Whitwell C, Li M, Liebler DC, Coffey RJ."
Journal name Mol Cell Proteomics
Publication year 2012
Sample Colorectal cancer cells
Sample name DKO-1
Isolation/purification methods Differential centrifugation
Filtration
Flotation density -
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
8
Experiment ID 208
MISEV standards
✔
EM
Biophysical techniques
✔
TSG101|HSP70|FLOT1
Enriched markers
✔
VDAC
Negative markers
✔
NTA
Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 23161513    
Organism Homo sapiens
Experiment description Proteomic analysis of exosomes from mutant KRAS colon cancer cells identifies intercellular transfer of mutant KRAS.
Authors "Demory Beckler M, Higginbotham JN, Franklin JL, Ham AJ, Halvey PJ, Imasuen IE, Whitwell C, Li M, Liebler DC, Coffey RJ."
Journal name Mol Cell Proteomics
Publication year 2012
Sample Colorectal cancer cells
Sample name Dks-8
Isolation/purification methods Differential centrifugation
Filtration
Flotation density -
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
9
Experiment ID 209
MISEV standards
✘ Biophysical techniques
✔
TSG101|HSP70|FLOT1
Enriched markers
✔
VDAC
Negative markers
✔
NTA
Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 23161513    
Organism Homo sapiens
Experiment description Proteomic analysis of exosomes from mutant KRAS colon cancer cells identifies intercellular transfer of mutant KRAS.
Authors "Demory Beckler M, Higginbotham JN, Franklin JL, Ham AJ, Halvey PJ, Imasuen IE, Whitwell C, Li M, Liebler DC, Coffey RJ."
Journal name Mol Cell Proteomics
Publication year 2012
Sample Colorectal cancer cells
Sample name DLD-1
Isolation/purification methods Differential centrifugation
Filtration
Flotation density -
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
10
Experiment ID 235
MISEV standards
✔
EM
Biophysical techniques
✔
TSG101|Alix|HSC70|GAPDH
Enriched markers
✔
HSP90B1
Negative markers
✔
qNano
Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 26054723    
Organism Homo sapiens
Experiment description Hepatocellular carcinoma-derived exosomes promote motility of immortalized hepatocyte through transfer of oncogenic proteins and RNAs
Authors "He M, Qin H, Poon TC, Sze SC, Ding X, Co NN, Ngai SM, Chan TF, Wong N"
Journal name Carcinogenesis
Publication year 2015
Sample Hepatocellular carcinoma cells
Sample name HKCI-8
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Sucrose density gradient
Flotation density 1.13-1.19 g/mL
Molecules identified in the study Protein
RNA
Methods used in the study Western blotting
Mass spectrometry
RT-PCR
RNA Sequencing
11
Experiment ID 488
MISEV standards
✔
EM
Biophysical techniques
✔
CD9|CD81|CD63|GAPDH|SDCBP|LAMP1|TFRC|UCHL1|FLOT2|LAMP2|FLOT1|ICAM1|RAB5B|CD151|RAB35|TSG101|RAB5A|CD82
Enriched markers
✔
CANX
Negative markers
✔
NTA
Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 36408942    
Organism Homo sapiens
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 Mesenchymal stem cells
Sample name UCMSC
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
12
Experiment ID 217
MISEV standards
✔
EM
Biophysical techniques
✔
TSG101|CD81|CD9|CD63
Enriched markers
✘ Negative markers
✔
NTA
Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 23844026    
Organism Homo sapiens
Experiment description Characterization of human thymic exosomes.
Authors "Skogberg G, Gudmundsdottir J, van der Post S, Sandstrom K, Bruhn S, Benson M, Mincheva-Nilsson L, Baranov V, Telemo E, Ekwall O."
Journal name PLoS One
Publication year 2013
Sample Thymus
Sample name Normal-Thymus
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
 Protein-protein interactions for SMCHD1
  Protein Interactor ExoCarta ID Identification method PubMed Species
1 UBE2H 7328
Affinity Capture-MS Homo sapiens
2 COL6A1 1291
Co-fractionation Homo sapiens
3 HIST2H2BE 8349
Affinity Capture-MS Homo sapiens
4 HMGN5 79366
Affinity Capture-MS Homo sapiens
5 LGR4 55366
Affinity Capture-MS Homo sapiens
6 ELF1 1997
Proximity Label-MS Homo sapiens
7 SPRED2 200734
Affinity Capture-MS Homo sapiens
8 PHYHIPL  
Affinity Capture-MS Homo sapiens
9 LHX2  
Proximity Label-MS Homo sapiens
10 HIST1H2BG 8339
Proximity Label-MS Homo sapiens
11 SOX2  
Proximity Label-MS Homo sapiens
12 TSG101 7251
Co-fractionation Homo sapiens
13 Ndc80  
Affinity Capture-MS Mus musculus
14 BRD2  
Affinity Capture-MS Homo sapiens
15 ELF4 2000
Proximity Label-MS Homo sapiens
16 CENPA  
Proximity Label-MS Homo sapiens
17 APEX1 328
Proximity Label-MS Homo sapiens
18 NOLC1 9221
Affinity Capture-MS Homo sapiens
19 OBSL1 23363
Affinity Capture-MS Homo sapiens
20 SGTA 6449
Proximity Label-MS Homo sapiens
21 AHCY 191
Affinity Capture-MS Homo sapiens
22 TEAD1  
Proximity Label-MS Homo sapiens
23 ITGA4 3676
Affinity Capture-MS Homo sapiens
24 EED  
Affinity Capture-MS Homo sapiens
25 SLX4  
Affinity Capture-MS Homo sapiens
26 TRIM25 7706
Co-fractionation Homo sapiens
27 DGKG  
Affinity Capture-MS Homo sapiens
28 TSHB  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
29 SOX5 6660
Proximity Label-MS Homo sapiens
30 RIF1  
Affinity Capture-MS Homo sapiens
31 PRPS2 5634
Affinity Capture-MS Homo sapiens
32 KLF16  
Proximity Label-MS Homo sapiens
33 EPB41L3 23136
Affinity Capture-MS Homo sapiens
34 CAMK2A 815
Affinity Capture-MS Homo sapiens
35 SRGAP3  
Affinity Capture-MS Homo sapiens
36 FOXC1  
Affinity Capture-MS Homo sapiens
37 HIST1H4A 8359
Affinity Capture-MS Homo sapiens
38 CEP19  
Affinity Capture-MS Homo sapiens
39 PEG10 23089
Two-hybrid Homo sapiens
40 OPTN 10133
Affinity Capture-MS Homo sapiens
41 ELK3  
Proximity Label-MS Homo sapiens
42 LRIF1  
Affinity Capture-MS Homo sapiens
43 CBX3 11335
Proximity Label-MS Homo sapiens
Affinity Capture-MS Homo sapiens
44 ALDH18A1 5832
Affinity Capture-MS Homo sapiens
45 TNRC18  
Cross-Linking-MS (XL-MS) Homo sapiens
46 BARD1 580
Two-hybrid Homo sapiens
47 ACTN4 81
Affinity Capture-MS Homo sapiens
48 NTRK1 4914
Affinity Capture-MS Homo sapiens
49 SUMO2 6613
Reconstituted Complex Homo sapiens
50 RPA4  
Proximity Label-MS Homo sapiens
51 NARS2  
Co-fractionation Homo sapiens
52 HECTD1 25831
Affinity Capture-MS Homo sapiens
53 HIST1H2BK 85236
Cross-Linking-MS (XL-MS) Homo sapiens
54 MPDZ  
Affinity Capture-MS Homo sapiens
55 BIN1 274
Affinity Capture-MS Homo sapiens
56 SF3A3 10946
Affinity Capture-MS Homo sapiens
57 CAMK1 8536
Affinity Capture-MS Homo sapiens
58 CD3EAP  
Proximity Label-MS Homo sapiens
59 CNBP 7555
Affinity Capture-MS Homo sapiens
60 TRIM21 6737
Affinity Capture-MS Homo sapiens
61 PAX6  
Proximity Label-MS Homo sapiens
62 PER2  
Proximity Label-MS Homo sapiens
63 HIST1H3A 8350
Proximity Label-MS Homo sapiens
64 FANCD2  
Affinity Capture-MS Homo sapiens
65 Rbm38  
Two-hybrid Mus musculus
66 KDM4D  
Affinity Capture-MS Homo sapiens
67 CHERP 10523
Affinity Capture-MS Homo sapiens
68 SOX6  
Proximity Label-MS Homo sapiens
69 SIRT7  
Affinity Capture-MS Homo sapiens
70 NR3C1 2908
Proximity Label-MS Homo sapiens
71 MAB21L2  
Affinity Capture-MS Homo sapiens
72 YY1 7528
Proximity Label-MS Homo sapiens
73 FBXO6 26270
Affinity Capture-MS Homo sapiens
74 METTL21B  
Affinity Capture-MS Homo sapiens
75 HNRNPCL2 440563
Affinity Capture-MS Homo sapiens
76 ERP44 23071
Affinity Capture-MS Homo sapiens
77 SOX15  
Proximity Label-MS Homo sapiens
78 AURKB 9212
Affinity Capture-MS Homo sapiens
79 TMEM173  
Affinity Capture-MS Homo sapiens
80 MYCN  
Affinity Capture-MS Homo sapiens
81 MYC  
Affinity Capture-MS Homo sapiens
82 HECW2  
Affinity Capture-MS Homo sapiens
83 SF3A1 10291
Affinity Capture-MS Homo sapiens
84 RPL35A 6165
Affinity Capture-MS Homo sapiens
85 ETV3  
Proximity Label-MS Homo sapiens
86 SNW1 22938
Affinity Capture-MS Homo sapiens
87 DDRGK1 65992
Affinity Capture-MS Homo sapiens
88 RNF2  
Affinity Capture-MS Homo sapiens
89 KIAA0368 23392
Co-fractionation Homo sapiens
90 CEBPA  
Protein-peptide Homo sapiens
91 BRD3 8019
Affinity Capture-MS Homo sapiens
92 TAF4 6874
Affinity Capture-MS Homo sapiens
93 CCDC8  
Affinity Capture-MS Homo sapiens
94 MVB12A 93343
Co-fractionation Homo sapiens
95 U2SURP 23350
Affinity Capture-MS Homo sapiens
96 Cbx1  
Affinity Capture-MS Mus musculus
97 FN1 2335
Affinity Capture-MS Homo sapiens
98 PLEKHA4 57664
Affinity Capture-MS Homo sapiens
99 MKRN1 23608
Affinity Capture-MS Homo sapiens
100 SPTAN1 6709
Affinity Capture-MS Homo sapiens
101 MAGEF1  
Affinity Capture-MS Homo sapiens
102 PARP1 142
Proximity Label-MS Homo sapiens
103 BKRF1  
Affinity Capture-MS
104 NMI  
Affinity Capture-MS Homo sapiens
105 PPP1R13L 10848
Affinity Capture-MS Homo sapiens
106 KEAP1 9817
Negative Genetic Homo sapiens
107 HIST1H2BC 8347
Cross-Linking-MS (XL-MS) Homo sapiens
108 Gnpnat1  
Affinity Capture-MS Mus musculus
109 KDM4C  
Affinity Capture-MS Homo sapiens
110 SHMT2 6472
Affinity Capture-MS Homo sapiens
111 WIF1 11197
Affinity Capture-MS Homo sapiens
112 ESR1  
Affinity Capture-MS Homo sapiens
113 UFL1 23376
Affinity Capture-MS Homo sapiens
114 IDH2 3418
Affinity Capture-MS Homo sapiens
115 KRT18 3875
Cross-Linking-MS (XL-MS) Homo sapiens
116 CIT 11113
Affinity Capture-MS Homo sapiens
117 XRCC6 2547
Proximity Label-MS Homo sapiens
118 CUL7 9820
Affinity Capture-MS Homo sapiens
119 Brca1  
Affinity Capture-MS Mus musculus
120 AR 367
Proximity Label-MS Homo sapiens
121 PTS  
Co-fractionation Homo sapiens
122 WARS 7453
Co-fractionation Homo sapiens
123 MEN1 4221
Affinity Capture-MS Homo sapiens
124 RPA3 6119
Proximity Label-MS Homo sapiens
125 NOTCH1 4851
Affinity Capture-MS Homo sapiens
126 TRPC4AP  
Affinity Capture-MS Homo sapiens
Affinity Capture-MS Homo sapiens
127 CDC5L 988
Affinity Capture-MS Homo sapiens
128 DERL1 79139
Affinity Capture-MS Homo sapiens
View the network image/svg+xml
 Pathways in which SMCHD1 is involved
No pathways found





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