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Tbio
SMCHD1
Structural maintenance of chromosomes flexible hinge domain-containing protein 1

Protein Summary
Description
Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments (By similarity). Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin (PubMed:23542155). Recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments: promotes random chromatin interactions that span the boundaries of existing structures, leading to create a compartment-less architecture typical of inactivated chromosome X (By similarity). Required to facilitate Xist RNA spreading (By similarity). Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus (PubMed:23143600). Has ATPase activity; may participate in structural manipul ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000320876
  • ENSP00000326603
  • ENSG00000101596

Symbol
  • KIAA0650
  • BAMS
  • FSHD2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
interacting protein
0.99
microRNA
0.93
virus perturbation
0.88
histone modification site profile
0.79
transcription factor
0.77


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 97.6   (req: < 5)
Gene RIFs: 25   (req: <= 3)
Antibodies: 70   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 97.6   (req: >= 5)
Gene RIFs: 25   (req: > 3)
Antibodies: 70   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (61)
DGKG
Tbio
Family:  Enzyme
Novelty:  0.03666646
p_int:  0.99999985
p_ni:  1.5e-7
Data Source:  BioPlex
TRPC4AP
Tbio
Novelty:  0.02170224
p_int:  0.999999082
p_ni:  9.18e-7
Score:  0.232
Data Source:  BioPlex,STRINGDB
TSHB
Tbio
Novelty:  0.00194403
p_int:  0.999998895
p_ni:  5.37e-7
p_wrong:  5.67e-7
Score:  0.345
Data Source:  BioPlex,STRINGDB
CDC5L
Tbio
Family:  TF
Novelty:  0.00663599
Score:  0.98
Data Source:  STRINGDB
MVB12A
Tbio
Novelty:  0.09794
Score:  0.902
Data Source:  STRINGDB
TRIM25
Tbio
Family:  Enzyme
Novelty:  0.0045864
Score:  0.86
Data Source:  STRINGDB
DUX4
Tbio
Novelty:  0.00765247
Score:  0.86
Data Source:  STRINGDB
WARS
Tbio
Family:  Enzyme
Novelty:  0.00202764
Score:  0.85
Data Source:  STRINGDB
TSG101
Tbio
Novelty:  0.00211746
Score:  0.845
Data Source:  STRINGDB
DUX4L7
Tdark
Novelty:  0.00860736
Score:  0.84
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (0)
No pathways found
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (11)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
BMI-adjusted waist-hip ratio
4
3
5
93.6
sex hormone-binding globulin measurement
7
2
7
6
75.8
BMI-adjusted waist circumference
2
1
2
29.4
body weight
1
1
1
27.5
educational attainment
1
1
1
25.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
BMI-adjusted waist-hip ratio
5
93.6
sex hormone-binding globulin measurement
7
6
75.8
BMI-adjusted waist circumference
2
29.4
body weight
1
27.5
educational attainment
1
25.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
structural maintenance of chromosomes flexible hinge domain containing 1
VGNC:5208
455319
Macaque
structural maintenance of chromosomes flexible hinge domain containing 1
695870
Mouse
MGI:1921605
74355
Rat
RGD:1307234
316732
Dog
structural maintenance of chromosomes flexible hinge domain containing 1
VGNC:46548
490535
Species
Name
OMA
EggNOG
Inparanoid
Chimp
structural maintenance of chromosomes flexible hinge domain containing 1
Macaque
structural maintenance of chromosomes flexible hinge domain containing 1
Mouse
Rat
Dog
structural maintenance of chromosomes flexible hinge domain containing 1
Publication Statistics
PubMed Score 97.60
PubMed score by year
PubTator Score 39.69
PubTator score by year
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Related Publications
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PMID
Year
Title