Reactome | MDC1 [nucleoplasm]

MDC1 [nucleoplasm]

Stable Identifier

R-HSA-75231

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

MDC1/NFBD1

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Locations in the PathwayBrowser for interactor UniProt:Q9BXW9 FANCD2

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External Reference Information

External Reference

UniProt:Q14676 MDC1

Gene Names

MDC1, KIAA0170, NFBD1

Chain

chain:1-2089

Reference Genes

BioGPS Gene:9656 MDC1

COSMIC (genes):MDC1 MDC1

CTD Gene:9656 MDC1

dbSNP Gene:9656 MDC1

ENSEMBL:ENSG00000137337 MDC1

HGNC:21163 MDC1

KEGG:hsa:9656 MDC1

Monarch:9656 MDC1

NCBI Gene:9656 MDC1

OMIM:607593 MDC1

UCSC:Q14676 MDC1

Reference Transcript

Other Identifiers

11748150_a_at

11748405_a_at

11751800_a_at

11758138_s_at

17016966

17026706

17028857

17031635

17034090

17036357

17039133

17041700

203061_PM_s_at

203061_s_at

203062_PM_s_at

203062_s_at

2948565

2948566

2948567

2948568

2948569

2948570

2948571

2948572

2948573

2948574

2948575

2948576

2948577

2948578

2948579

2948580

2948581

2948582

2948583

2948584

2948586

32661_s_at

32662_at

8124813

8178404

9656

A_23_P19455

D79992_at

GE87930

GO:0000076

GO:0005515

GO:0005634

GO:0005654

GO:0005694

GO:0005925

GO:0006281

GO:0006325

GO:0006355

GO:0006974

GO:0016604

GO:0031573

GO:0035861

GO:0043226

GO:0060090

GO:0060261

GO:0140463

GO:0140566

GO:1990166

HMNXSV003044036

Hs.277585.0.A1_3p_a_at

ILMN_1814122

PH_hs_0020142

TC06001507.hg

TC6_apd_hap1000077.hg

TC6_cox_hap2000141.hg

TC6_dbb_hap3000130.hg

TC6_mann_hap4000119.hg

TC6_mcf_hap5000120.hg

TC6_qbl_hap6000131.hg

TC6_ssto_hap7000121.hg

g7661965_3p_a_at

Participates

as an input of

as a candidate of

BRCA1, ATR, FANCD2, FANCI, ATM, MDC1, CHEK1, RAD51D [nucleoplasm] (Homo sapiens)

as a component of

MDC1 [nucleoplasm] (Homo sapiens)

Other forms of this molecule

p-5T-MDC1 [nucleoplasm]

SUMO2-K1840,p-5T-MDC1 [nucleoplasm]

K48PolyUb,SUMO2-K1840,p-5T-MDC1 [nucleoplasm]

polySUMO2,3-K1840-MDC1 [nucleoplasm]

monoSUMO1-K1840-MDC1 [nucleoplasm]

Inferred To

Mdc1 [nucleoplasm] (Mus musculus)

Mdc1 [nucleoplasm] (Rattus norvegicus)

Ghost homologue of MDC1 [nucleoplasm] (Dictyostelium discoideum)

Ghost homologue of MDC1 [nucleoplasm] (Gallus gallus)

Ghost homologue of MDC1 [nucleoplasm] (Saccharomyces cerevisiae)

Ghost homologue of MDC1 [nucleoplasm] (Schizosaccharomyces pombe)

Ptip [nucleoplasm] (Drosophila melanogaster)

pis-1 [nucleoplasm] (Caenorhabditis elegans)

MDC1 [nucleoplasm] (Bos taurus)

MDC1 [nucleoplasm] (Canis familiaris)

MDC1 [nucleoplasm] (Sus scrofa)

mdc1 [nucleoplasm] (Xenopus tropicalis)

Cross References

RefSeq

NP_055456.2, XP_005249551.1, XP_016867008.1, XP_011513305.1, XP_011513303.1

OpenTargets

ENSG00000137337

ENSEMBL

ENST00000427406, ENST00000449153, ENSP00000387429, ENSP00000373060, ENST00000420320, ENSP00000409167, ENSP00000396484, ENSP00000415212, ENSP00000416511, ENST00000420019, ENST00000440369, ENST00000435664, ENSP00000365588, ENSP00000404318, ENST00000383566

HPA

ENSG00000137337-MDC1

PRO

Q14676

Pharos - Targets

Q14676

GlyGen

Q14676

PDB

2ETX, 3UNN, 3UEO, 3UN0, 2ADO, 3UOT, 3K05, 2AZM, 3UNM, 3UMZ

Interactors (14)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O60934 NBN	3	p-S343-NBN [nucleoplasm] (R-HSA-75237) NBN [cytosol] (R-HSA-5684005) NBN [nucleoplasm] (R-HSA-75163)	0.968	33
UniProt:P16104 H2AFX	7	H2AFX [nucleoplasm] (R-HSA-56151) p-Y143-H2AFX [nucleoplasm] (R-HSA-5683942) p-S140,Y143-H2AFX [nucleoplasm] (R-HSA-5683953) p-S140-H2AFX [nucleoplasm] (R-HSA-75170) K63PolyUb-K14,K16,p-S140-H2AFX [nucleoplasm] (R-HSA-5682847) H2AFX [extracellular region] (R-HSA-977583) Me2sR4-H2AFX [nucleoplasm] (R-HSA-5218317)	0.965	21
UniProt:O76064 RNF8	1	RNF8 [nucleoplasm] (R-HSA-5682539)	0.725	11
UniProt:Q92878 RAD50	1	RAD50 [nucleoplasm] (R-HSA-75160)	0.671	9
UniProt:P49959 MRE11	2	MRE11A [nucleoplasm] (R-HSA-59544) MRE11A [cytosol] (R-HSA-3204309)	0.671	9
UniProt:P38398 BRCA1	20	polySUMO2,3-BRCA1 [nucleoplasm] (R-HSA-2997624) monoSUMO1-K109-BRCA1 [nucleoplasm] (R-HSA-2997644) BRCA1 M1411T [nucleoplasm] (R-HSA-9702140) BRCA1 M1400V [nucleoplasm] (R-HSA-9701202) BRCA1 L1407P [nucleoplasm] (R-HSA-9702135) BRCA1 Y777* [nucleoplasm] (R-HSA-9702765) BRCA1 S1009* [nucleoplasm] (R-HSA-9702755) BRCA1 P724Lfs12 [nucleoplasm] (R-HSA-9703778) BRCA1 S451 [nucleoplasm] (R-HSA-9702754) BRCA1 S864* [nucleoplasm] (R-HSA-9702752) BRCA1 P897Kfs5 [nucleoplasm] (R-HSA-9703782) BRCA1 N555Kfs17 [nucleoplasm] (R-HSA-9703781) BRCA1 Y1127Sfs6 [nucleoplasm] (R-HSA-9703780) BRCA1 S886Cfs16 [nucleoplasm] (R-HSA-9703802) BRCA1 V83Cfs2 [nucleoplasm] (R-HSA-9703800) BRCA1 T464Pfs11 [nucleoplasm] (R-HSA-9703807) BRCA1 G813Dfs2 [nucleoplasm] (R-HSA-9703549) BRCA1 V340Gfs6 [nucleoplasm] (R-HSA-9703804) BRCA1 Y655* [nucleoplasm] (R-HSA-9702769) BRCA1 W372* [nucleoplasm] (R-HSA-9702768)	0.629	4
UniProt:Q13315 ATM	5	ATM [cytosol] (R-HSA-9665171) ATM [peroxisomal matrix] (R-HSA-9665169) p-S1981,Ac-K3016-ATM [nucleoplasm] (R-HSA-5693527) ATM [nucleoplasm] (R-HSA-69484) Ac-K3016-ATM [nucleoplasm] (R-HSA-5682043)	0.604	3
UniProt:O96028-1 NSD2			0.602	3
UniProt:O96028 NSD2	2	p-S102-WHSC1 [nucleoplasm] (R-HSA-5682984) WHSC1 [nucleoplasm] (R-HSA-1183215)	0.591	3
UniProt:Q12888 TP53BP1	3	TP53BP1 [nucleoplasm] (R-HSA-61175) p-S25,S1778-TP53BP1 [nucleoplasm] (R-HSA-5683418) monoSUMO1-K-TP53BP1 [nucleoplasm] (R-HSA-2997591)	0.548	4
UniProt:Q14676 MDC1	6	MDC1 [nucleoplasm] (R-HSA-75231) p-5T-MDC1 [nucleoplasm] (R-HSA-75236) SUMO2-K1840,p-5T-MDC1 [nucleoplasm] (R-HSA-5684061) K48PolyUb,SUMO2-K1840,p-5T-MDC1 [nucleoplasm] (R-HSA-5684074) polySUMO2,3-K1840-MDC1 [nucleoplasm] (R-HSA-4570473) monoSUMO1-K1840-MDC1 [nucleoplasm] (R-HSA-4570546)	0.536	2
UniProt:Q06609 RAD51	2	RAD51 [nucleoplasm] (R-HSA-62637) p-T309-RAD51 [nucleoplasm] (R-HSA-5685231)	0.524	3
UniProt:O76064-1 RNF8			0.524	2
UniProt:Q9BXW9 FANCD2	3	FANCD2 [nucleoplasm] (R-HSA-419522) p-T691,S717-FANCD2 [nucleoplasm] (R-HSA-6788481) MonoUb-K561,p-T691,S717-FANCD2 [nucleoplasm] (R-HSA-6785318)	0.483	2

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