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HUMAN:MDC1

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) MDC1 (synonyms: KIAA0170, NFBD1)
Protein Name(s) Mediator of DNA damage checkpoint protein 1

Nuclear factor with BRCT domains 1

External Links
UniProt Q14676
EMBL D79992
CR749828
BA000025
AB088099
AB202097
AB103605
AL662848
AL662797
AL845353
AL845353
AL662848
AL662797
BX248307
BX248307
BX927283
BX927283
CR936878
CR936878
CR788240
CR788240
CR759873
CR759873
CH471081
BC110645
BC152556
CCDS CCDS34384.1
RefSeq NP_055456.2
XP_005249551.1
XP_005272968.1
XP_005274958.1
XP_005275124.1
XP_005275253.1
XP_005275257.1
XP_005275380.1
XP_006725919.1
UniGene Hs.653495
PDB 2ADO
2AZM
2ETX
3K05
3UEO
3UMZ
3UN0
3UNM
3UNN
3UOT
PDBsum 2ADO
2AZM
2ETX
3K05
3UEO
3UMZ
3UN0
3UNM
3UNN
3UOT
ProteinModelPortal Q14676
SMR Q14676
BioGrid 115014
DIP DIP-33603N
IntAct Q14676
MINT MINT-259925
PhosphoSite Q14676
MaxQB Q14676
PaxDb Q14676
PRIDE Q14676
Ensembl ENST00000376406
ENST00000383566
ENST00000420019
ENST00000420320
ENST00000427406
ENST00000435664
ENST00000440369
ENST00000449153
GeneID 9656
KEGG hsa:9656
UCSC uc003nrf.4
uc003nrg.4
uc011dmp.1
CTD 9656
GeneCards GC06M030667
GC06Mi30675
GC06Mj30657
GC06Mk30657
GC06Ml30712
GC06Mm30746
GC06Mn30657
GC06Mo30659
HGNC HGNC:21163
HPA HPA006915
MIM 607593
neXtProt NX_Q14676
PharmGKB PA134942837
eggNOG NOG12793
GeneTree ENSGT00600000084454
HOVERGEN HBG080567
InParanoid Q14676
OMA PFCPRES
PhylomeDB Q14676
TreeFam TF329580
Reactome REACT_1924
REACT_97
SignaLink Q14676
ChiTaRS MDC1
EvolutionaryTrace Q14676
GeneWiki MDC1
GenomeRNAi 9656
NextBio 36251
PRO PR:Q14676
Proteomes UP000005640
UP000005640
Bgee Q14676
ExpressionAtlas Q14676
Genevestigator Q14676
GO GO:0005694
GO:0005925
GO:0005654
GO:0005634
GO:0070975
GO:0008022
GO:0006281
GO:0006302
GO:0000724
GO:0031573
Gene3D 2.60.200.20
3.40.50.10190
InterPro IPR001357
IPR000253
IPR008984
Pfam PF00498
SMART SM00292
SM00240
SUPFAM SSF49879
SSF52113
PROSITE PS50172
PS50006

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

enables

GO:0070975

FHA domain binding

PMID:20008512[1]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q7Z2E3

F

Seeded From UniProt

complete

enables

GO:0008022

protein C-terminus binding

PMID:17577209[2]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q9BQA5

F

Seeded From UniProt

complete

part_of

GO:0005694

chromosome

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q5PSV9

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:24550317[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:24217620[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:15604234[5]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:29656893[6]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q14676

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:21293379[7]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q14676

F

Seeded From UniProt

complete

GO:0043517

positive regulation of DNA damage response, signal transduction by p53 class mediator

PMID:18986980[8]

ECO:0000315

P

When MDC1 is knocked down reduced foci formation of DSB DNA repair was observed especially the 53pb1 recruitment. Figure 6B shows the quantitave foci formation 53pb1%. When MDC1 is knocked down, the 53pb1% is greatly reduced which is a known to be involve in DSB DNA repair. This is IMP because of the use of shRNA MDC1 and is this GO because in the presence of MDC1 p53 recruitment to repair foci is increased.

complete

part_of

GO:0016604

nuclear body

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005925

focal adhesion

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0031573

intra-S DNA damage checkpoint

PMID:17577209[2]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006303

double-strand break repair via nonhomologous end joining

Reactome:R-HSA-5693571

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

Reactome:R-HSA-69891
Reactome:R-HSA-5693599
Reactome:R-HSA-5693583
Reactome:R-HSA-5693566
Reactome:R-HSA-5693551
Reactome:R-HSA-5693536
Reactome:R-HSA-5686900
Reactome:R-HSA-5686704
Reactome:R-HSA-5686685
Reactome:R-HSA-5684071
Reactome:R-HSA-5684052
Reactome:R-HSA-5683801
Reactome:R-HSA-5683735
Reactome:R-HSA-5683425
Reactome:R-HSA-5683405
Reactome:R-HSA-5683385
Reactome:R-HSA-5683384
Reactome:R-HSA-5683077
Reactome:R-HSA-5682992
Reactome:R-HSA-5682983
Reactome:R-HSA-5682967
Reactome:R-HSA-5682965
Reactome:R-HSA-5682863
Reactome:R-HSA-5682858
Reactome:R-HSA-5682629
Reactome:R-HSA-5682607
Reactome:R-HSA-5682598
Reactome:R-HSA-5682588
Reactome:R-HSA-5682586
Reactome:R-HSA-4570554
Reactome:R-HSA-4570553

ECO:0000304

author statement supported by traceable reference used in manual assertion































C

Seeded From UniProt

complete

part_of

GO:0005694

chromosome

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0158
UniProtKB-SubCell:SL-0468

C

Seeded From UniProt

complete

involved_in

GO:0007049

cell cycle

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0131

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0227

P

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0234

P

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ Becherel, OJ et al. (2010) CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. Nucleic Acids Res. 38 1489-503 PubMed GONUTS page
  2. ↑ 2.0 2.1 Miele, A et al. (2007) The interactome of the histone gene regulatory factor HiNF-P suggests novel cell cycle related roles in transcriptional control and RNA processing. J. Cell. Biochem. 102 136-48 PubMed GONUTS page
  3. ↑ Khoury-Haddad, H et al. (2014) PARP1-dependent recruitment of KDM4D histone demethylase to DNA damage sites promotes double-strand break repair. Proc. Natl. Acad. Sci. U.S.A. 111 E728-37 PubMed GONUTS page
  4. ↑ Mosammaparast, N et al. (2013) The histone demethylase LSD1/KDM1A promotes the DNA damage response. J. Cell Biol. 203 457-70 PubMed GONUTS page
  5. ↑ Polci, R et al. (2004) NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response. Cancer Res. 64 8800-3 PubMed GONUTS page
  6. ↑ Gupta, R et al. (2018) DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity. Cell 173 972-988.e23 PubMed GONUTS page
  7. ↑ Pei, H et al. (2011) MMSET regulates histone H4K20 methylation and 53BP1 accumulation at DNA damage sites. Nature 470 124-8 PubMed GONUTS page
  8. ↑ Eliezer, Y et al. (2009) The direct interaction between 53BP1 and MDC1 is required for the recruitment of 53BP1 to sites of damage. J. Biol. Chem. 284 426-35 PubMed GONUTS page
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