MDC1 (mediator of DNA damage checkpoint 1)

2003-02-01  

Identity

HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
NFBD1
FUSION GENES

Other Information

Locus ID:

NCBI: 9656
MIM: 607593
HGNC: 21163
Ensembl: ENSG00000137337

Variants:

dbSNP: 9656
ClinVar: 9656
TCGA: ENSG00000137337
COSMIC: MDC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137337ENST00000376406Q14676
ENSG00000137337ENST00000376406A0A1U9XBC1
ENSG00000137337ENST00000416571A2AB05
ENSG00000137337ENST00000417033H0Y6Z8
ENSG00000137337ENST00000422266A2AB06
ENSG00000137337ENST00000425072A2AB07
ENSG00000137337ENST00000613547A0A087X0R2

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571
TP53 Regulates Transcription of DNA Repair GenesREACTOMER-HSA-6796648

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
180018242007RNF8 ubiquitylates histones at DNA double-strand breaks and promotes assembly of repair proteins.525
180018252007RNF8 transduces the DNA-damage signal via histone ubiquitylation and checkpoint protein assembly.486
126070052003MDC1 is a mediator of the mammalian DNA damage checkpoint.312
126070032003MDC1 is required for the intra-S-phase DNA damage checkpoint.178
152018652004Mdc1 couples DNA double-strand break recognition by Nbs1 with its H2AX-dependent chromatin retention.148
20081839201053BP1-dependent robust localized KAP-1 phosphorylation is essential for heterochromatic DNA double-strand break repair.138
185839882008Phospho-dependent interactions between NBS1 and MDC1 mediate chromatin retention of the MRN complex at sites of DNA damage.122
126070042003MDC1 is coupled to activated CHK2 in mammalian DNA damage response pathways.115
160097232005Dynamic assembly and sustained retention of 53BP1 at the sites of DNA damage are controlled by Mdc1/NFBD1.108
184113072008Phosphorylation of SDT repeats in the MDC1 N terminus triggers retention of NBS1 at the DNA damage-modified chromatin.100

Citation

Dessen P

MDC1 (mediator of DNA damage checkpoint 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41326/mdc1