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Tbio
MDC1
Mediator of DNA damage checkpoint protein 1

Protein Summary
Description
Required for checkpoint mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle. May serve as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage marked by 'Ser-139' phosphorylation of histone H2AFX. Also required for downstream events subsequent to the recruitment of these proteins. These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1. The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX nea ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000376406
  • ENSP00000365588
  • ENSG00000137337
  • ENST00000383566
  • ENSP00000373060
  • ENSG00000206481
  • ENST00000420019
  • ENSP00000396484
  • ENSG00000224587
  • ENST00000420320
  • ENSP00000416511
  • ENSG00000225589
  • ENST00000427406
  • ENSP00000387429
  • ENSG00000234012
  • ENST00000435664
  • ENSP00000404318
  • ENSG00000231135
  • ENST00000440369
  • ENSP00000415212
  • ENSG00000228575
  • ENST00000449153
  • ENSP00000409167
  • ENSG00000237095

Symbol
  • KIAA0170
  • NFBD1
  • NFBD1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor binding site profile
0.97
hub protein
0.92
kinase
0.89
drug perturbation
0.87
transcription factor
0.85


Related Tools
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
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 187.5   (req: < 5)
Gene RIFs: 88   (req: <= 3)
Antibodies: 435   (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: 187.5   (req: >= 5)
Gene RIFs: 88   (req: > 3)
Antibodies: 435   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5
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
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
2
1
0
1.5
8.4
eosinophil count
1
1
1
7.2
1
1
0
1.1
0.9
1
1
0
1.1
0.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.5
8.4
eosinophil count
1
7.2
0
1.1
0.9
0
1.1
0.9
Orthologs (7)
1 – 5 of 7
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
mediator of DNA damage checkpoint 1
471959
Mouse
MGI:3525201
240087
Rat
RGD:1559468
309595
Dog
mediator of DNA damage checkpoint 1
VGNC:43098
100855462
Horse
mediator of DNA damage checkpoint 1
VGNC:20052
100055473
Species
Name
OMA
EggNOG
Inparanoid
Chimp
mediator of DNA damage checkpoint 1
Mouse
Rat
Dog
mediator of DNA damage checkpoint 1
Horse
mediator of DNA damage checkpoint 1
Protein Data Bank (10)
1 – 5 of 10
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (27)
Cell Cycle (R-HSA-1640170)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 22
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cell Cycle
Reactome
Cell Cycle Checkpoints
Reactome
DNA Double Strand Break Response
Reactome
DNA Double-Strand Break Repair
Reactome
DNA Repair
Name
Explore in Pharos
Explore in Source
Cell Cycle
Cell Cycle Checkpoints
DNA Double Strand Break Response
DNA Double-Strand Break Repair
DNA Repair
Gene Ontology Terms (10)
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Physical Interaction (IPI)
IntAct
Inferred from Physical Interaction (IPI)
UniProtKB
Protein-Protein Interactions (380)
1 – 10 of 380
SH3KBP1
Tbio
Family: Enzyme
Novelty: 0.01454593
p_int: 1
Score: 0.188
Data Source: BioPlex,STRINGDB
GTF2E2
Tbio
Novelty: 0.18033153
p_int: 0.958112786
p_ni: 0.041868035
p_wrong: 0.00001918
Data Source: BioPlex
MLC1
Tbio
Family: IC
Novelty: 0.00957425
p_int: 0.938944999
p_ni: 0.06105457
p_wrong: 4.31e-7
Data Source: BioPlex
USP47
Tchem
Family: Enzyme
Novelty: 0.07579226
p_int: 0.899314592
p_ni: 0.100685408
Score: 0.187
Data Source: BioPlex,STRINGDB
ESAM
Tbio
Novelty: 0.00462452
p_int: 0.881715791
p_ni: 0.118283918
p_wrong: 2.92e-7
Score: 0.252
Data Source: BioPlex,STRINGDB
TP53BP1
Tbio
Family: Epigenetic
Novelty: 0.00131256
Score: 0.998
Data Source: Reactome,STRINGDB
H2AFX
Tbio
Novelty: 0.00048694
Score: 0.998
Data Source: Reactome,STRINGDB
ATM
Tchem
Family: Kinase
Novelty: 0.00019169
Score: 0.998
Data Source: Reactome,STRINGDB
NBN
Tbio
Novelty: 0.00759456
Score: 0.995
Data Source: Reactome,STRINGDB
BRCA1
Tchem
Novelty: 0.00011146
Score: 0.993
Data Source: STRINGDB
Publication Statistics
PubMed Score  187.50

PubMed score by year
PubTator Score  135.64

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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