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 near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q14676
• A2AB04
• A2BF04
• A2RRA8
• A7YY86
• B0S8A2
• Q0EFC2
• Q2L6H7
• Q2TAZ4
• Q5JP55
• Q5JP56
• Q5ST83
• Q68CQ3
• Q86Z06
• Q96QC2

Gene Name

• MDC1

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

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

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: 225.19   (req: < 5)

Gene RIFs: 100   (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: 225.19   (req: >= 5)

Gene RIFs: 100   (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