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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MDC1 Gene

protein-coding GIFtS: 61
GCID: GC06M030667

mediator of DNA-damage checkpoint 1

Explore 18 diseases affiliated with
MDC1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Mediator Of DNA-Damage Checkpoint 1¹ ²		Em:AB023051.5¹
NFBD1¹ ² ³ ⁵		Homologue To Drosophila Photoreceptor Protein Calphotin²
KIAA0170¹ ³ ⁵		Mediator Of DNA Damage Checkpoint 1²
Nuclear Factor With BRCT Domains 1² ³		Mediator Of DNA Damage Checkpoint Protein 1²

External Ids:	HGNC: 21163¹	Entrez Gene: 9656²	Ensembl: ENSG00000137337⁷	OMIM: 607593⁵	UniProtKB: Q14676³

Export aliases for MDC1 gene to outside databases

Previous GC identifers: GC06M030438 GC06M030773 GC06M030775

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MDC1:

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)

UniProtKB/Swiss-Prot: MDC1_HUMAN, Q14676

Function: 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

Gene Wiki entry for MDC1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167244.1 NT_167245.1 NT_167246.1 NT_167247.1

NT_167248.1 NT_167249.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MDC1 gene promoter:
STAT1 p53 STAT3 GR-alpha IRF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MDC1 promoter sequence

Search SABiosciences Chromatin IP Primers for MDC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MDC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.33 HGNC cytogenetic band: 6p21.3

MDC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MDC1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M030667: view genomic region (about GC identifiers)

Start:	30,667,584 bp from pter	End:	30,685,666 bp from pter
Size:	18,083 bases	Orientation:	minus strand

6/7 alternative locations (see all 7):

Chr6-,ALT_REF_LOCI_2 30,657,449-30,714,511	Chr6-,ALT_REF_LOCI_3 30,657,847-30,686,758	Chr6-,ALT_REF_LOCI_6 30,657,119-30,710,573
Chr6-,ALT_REF_LOCI_4 30,635,338-30,653,211	Chr6-,ALT_REF_LOCI_5 30,660,891-30,678,764	Chr6-,ALT_REF_LOCI_1 30,675,831-30,702,004

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MDC1_HUMAN, Q14676 (See protein sequence)

Recommended Name: Mediator of DNA damage checkpoint protein 1

Size: 2089 amino acids; 226666 Da

Subunit: Homodimer. Interacts with several proteins involved in the DNA damage response, although not all these

interactions may be direct. Interacts with H2AFX, which requires phosphorylation of H2AFX on 'Ser-139'. Interacts with

the MRN complex, composed of MRE11A/MRE11, RAD50, and NBN. Interacts with CHEK2, which requires ATM-mediated

phosphorylation of 'Thr-68' within the FHA domain of CHEK2. Interacts constitutively with the BRCA1-BARD1 complex,

SMC1A and TP53BP1. Interacts with ATM and FANCD2, and these interactions are reduced upon DNA damage. Also interacts

with the PRKDC complex, composed of XRCC6/KU70, XRCC5/KU80 and PRKDC/XRCC7. This interaction may be required for PRKDC

autophosphorylation, which is essential for DNA double strand break (DSB) repair. When phosphorylated by ATM,

interacts with RNF8 (via FHA domain). Interacts with CEP164. When phosphorylated, interacts with APTX (via FHA-like

domain)

Subcellular location: Nucleus. Chromosome (By similarity). Note=Associated with chromatin. Relocalizes to discrete

nuclear foci following DNA damage, this requires 'Ser-139' phosphorylation of H2AFX. Colocalizes with APTX at sites of

DNA double-strand breaks

Sequence caution: Sequence=BAA11487.2; Type=Erroneous initiation; Sequence=CAH18685.1; Type=Erroneous termination;

Positions=1804; Note=Translated as Gln;

6/9 PDB 3D structures from and Proteopedia for MDC1 (see all 9):

2ADO (3D)

2AZM (3D)

2ETX (3D)

3K05 (3D)

3UMZ (3D)

3UN0 (3D)

Secondary accessions: A2AB04 A2BF04 A2RRA8 A7YY86 B0S8A2 Q0EFC2 Q2L6H7 Q2TAZ4 Q5JP55 Q5JP56 Q5ST83

Q68CQ3 Q86Z06 Q96QC2

Alternative splicing: 4 isoforms: Q14676-1 Q14676-2 Q14676-3 Q14676-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MDC1: NX_Q14676

Post-translational modifications:

Phosphorylated upon exposure to ionizing radiation (IR), ultraviolet radiation (UV), and hydroxyurea (HU).

Phosphorylation in response to IR requires ATM, NBN, and possibly CHEK2. Also phosphorylated during the G2/M phase of

the cell cycle and during activation of the mitotic spindle checkpoint. Phosphorylation at Thr-4 by ATM stabilizes and

enhances homodimerization via the FHA domain¹

Sumoylation at Lys-1840 by PIAS4 following DNA damage promotes ubiquitin-mediated degradation¹

Ubiquitinated by RNF4, leading to proteasomal degradation; undergoes 'Lys-48'-linked polyubiquitination¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q14676

MDC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_055456.2

ENSEMBL proteins:

ENSP00000365588 ENSP00000408962 ENSP00000400979 ENSP00000396989 ENSP00000411310

ENSP00000365587

Reactome Protein details: Q14676
Human Recombinant Protein Products for MDC1:

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	Novus Biologicals MDC1 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MDC1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005694	chromosome	ISS	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005925	focal adhesion	IDA	--

MDC1 for ontologies About GeneDecksing

MDC1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of MDC1
	R&D Systems Antibodies for MDC1
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	GenScript Custom Superior Antibodies Services for MDC1
	Novus Biologicals MDC1 Antibodies
	Abcam antibodies for MDC1
	Uscn Antibodies for MDC1
	ThermoFisher Antibodies for MDC1

Assay Products for MDC1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for MDC1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MDC1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MDC1 for domains About GeneDecksing

3 InterPro domains/families:

IPR008984 SMAD_FHA_domain

IPR000253 FHA_dom

IPR001357 BRCT_dom

Graphical View of Domain Structure for InterPro Entry Q14676

ProtoNet protein and cluster: Q14676

2 Blocks protein families:

IPB000253 Forkhead-associated (FHA)

IPB001357 BRCT domain

UniProtKB/Swiss-Prot: MDC1_HUMAN, Q14676

Domain: Tandemly repeated BRCT domains are characteristic of proteins involved in DNA damage signaling. In MDC1, these

repeats are required for localization to chromatin which flanks sites of DNA damage marked by 'Ser-139'

phosphorylation of H2AFX

Similarity: Contains 2 BRCT domains

Similarity: Contains 1 FHA domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MDC1_HUMAN, Q14676

Function: 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

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	19804756
GO:0008022	protein C-terminus binding	IPI	17577209
GO:0070975	FHA domain binding	IPI	--

MDC1 for ontologies About GeneDecksing

Phenotypes:
9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Mdc1):

cellular	endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism
immune system	mortality/aging	no phenotypic analysis	reproductive system

MDC1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MDC1

miRNA Products:		OriGene 3'-UTR Clone: MDC1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MDC1
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate MDC1 (see all 11):
		hsa-miR-3910 hsa-miR-576-5p hsa-miR-4263 hsa-miR-759 hsa-miR-340 hsa-miR-3680 hsa-miR-374a* hsa-miR-124

		SwitchGear 3'UTR luciferase reporter plasmid: MDC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MDC1 (see all 4) OriGene shRNA RFP: MDC1 OriGene siRNA: MDC1
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		Sirion Biotech Custom design and validation of potent shRNA sequences against MDC1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for MDC1
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MDC1 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MDC1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MDC1 (NM_014641)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MDC1
		Search LifeMap BioReagents cell lines for MDC1
		Sirion Biotech Customized stable knockdown cell line services for MDC1 Sirion Biotech Customized inducible knockdown cell line services for MDC1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDC1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Recruitment of repair and signaling proteins to double-strand breaks

	Recruitment of repair and signaling proteins to double-strand breaks	1.00			ATM mediated phosphorylation of repair proteins	0.62
	ATM mediated response to DNA double-strand break	0.62

Homologous Recombination Repair

	Homologous Recombination Repair	1.00			Double-Strand Break Repair	0.71
	Homologous recombination repair of replication-independent double-strand breaks	1.00

DNA damage ATM/ATR regulation of G1/S checkpoint

DNA damage ATM/ATR regulation of G1/S checkpoint

1.00

DNA damage_ATM/ATR regulation of G1/S checkpoint

0.98

G2/M DNA damage checkpoint

DNA damage_DNA-damage-induced responses

0.29

DNA damage DNA-damage-induced responses

0.29

Formation of RNA Pol II elongation complex

DNA damage_Role of Brca1 and Brca2 in DNA repair

0.17

DNA damage Role of Brca1 and Brca2 in DNA repair

0.17

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for MDC1

	DNA damage ATM/ATR regulation of G1/S checkpoint
	DNA damage DNA-damage-induced responses
	DNA damage Role of Brca1 and Brca2 in DNA repair

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MDC1

ATM Pathway

3 GeneGo (Thomson Reuters) Pathways for MDC1

	DNA damage Role of Brca1 and Brca2 in DNA repair
	DNA damage ATM/ATR regulation of G1/S checkpoint
	DNA damage DNA-damage-induced responses

5/7 Reactome Pathways for MDC1 (see all 7)

	ATM mediated response to DNA double-strand break
	DNA Repair
	Homologous recombination repair of replication-independent double-strand breaks
	Homologous Recombination Repair
	Recruitment of repair and signaling proteins to double-strand breaks

MDC1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MDC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/40 Interacting proteins for MDC1 (Q14676^{1, 2, 3} ENSP00000365588⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 40)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NBN	O60934¹^,²^,³, ENSP00000265433⁴	EBI-495644,EBI-494844 MINT-7891588 MINT-6805462 MINT-6805527 MINT-6805435 MINT-7891606 MINT-7891437 MINT-6805493 MINT-6805327 MINT-7891485 MINT-6805569 MINT-6805250 MINT-6805281 MINT-7891501 MINT-6805304 MINT-7891455 MINT-6805376 MINT-7891515 MINT-6805510 MINT-7891469 I2D: score=5 STRING: ENSP00000265433
H2AFX	P16104¹^,²^,³, ENSP00000364310⁴	EBI-495644,EBI-494830 MINT-6805304 I2D: score=4 STRING: ENSP00000364310
MRE11A	P49959²^,³	MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805250 MINT-6805281 MINT-6805549 MINT-6805304 MINT-6805376 I2D: score=3
RAD50	Q92878²^,³	MINT-6805549 MINT-6805304 MINT-6805435 MINT-6805527 MINT-6805376 MINT-6805327 MINT-6805250 MINT-6805281 I2D: score=3
CSNK2A1	P68400²^,³	MINT-6805408 I2D: score=1

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000724	double-strand break repair via homologous recombination	TAS	--
GO:0006281	DNA repair	TAS	--
GO:0006302	double-strand break repair	TAS	--
GO:0007049	cell cycle	IEA	--
GO:0031573	intra-S DNA damage checkpoint	TAS	17577209

MDC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MDC1
Search CenterWatch for drugs/clinical trials and news about MDC1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MDC1 gene:

NM_014641.2

Unigene Cluster for MDC1:

Mediator of DNA-damage checkpoint 1

Hs.653495 [show with all ESTs]

Unigene Representative Sequence: NM_014641

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000376406(uc003nrf.4 uc003nrg.4) ENST00000489540 ENST00000417033

ENST00000492462 ENST00000494654 ENST00000416571 ENST00000425072 ENST00000422266

ENST00000376405(uc011dmp.1 uc003nrh.1 uc003nri.2)

miRNA Products:		OriGene 3'-UTR Clone: MDC1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MDC1
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate MDC1 (see all 11):
		hsa-miR-3910 hsa-miR-576-5p hsa-miR-4263 hsa-miR-759 hsa-miR-340 hsa-miR-3680 hsa-miR-374a* hsa-miR-124

		SwitchGear 3'UTR luciferase reporter plasmid: MDC1 3' UTR sequence

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		Sirion Biotech Custom design and validation of potent shRNA sequences against MDC1

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MDC1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MDC1

Additional cDNA sequence:

AK298749.1 AK302434.1 BC110645.1 BC131491.1 BC152556.1 D79992.1 EF177820.1 EF177821.1

EF177822.1 EF177823.1

11 DOTS entries:

DT.120954 DT.95154688 DT.121386407 DT.121386393 DT.121386406 DT.95267622 DT.92431886 DT.100813952

DT.91666577 DT.95284178 DT.97823063

21 AceView cDNA sequences:

D79992 BI053907 CR749828 AA834198 BI023383 BE177118 AW361872 AF049565

BE177140 BF331944 AW370574 BI053834 BF355434 BE694194 AW580204 BE177176

BI023382 BF326101 BF919122 BE082779 BQ301344

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for MDC1 (see all 11) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	·	4c	·	4d	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12a	·	12b	·	12c	^	13	^	14	^	15a	·	15b	^	16	^	17	^
SP1:																													-		-
SP2:
SP3:					-		-		-
SP4:									-
SP5:

ExUns:	18
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for MDC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MDC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGTGGGACCA

About this image
See MDC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MDC1

SOURCE GeneReport for Unigene cluster: Hs.653495

UniProtKB/Swiss-Prot: MDC1_HUMAN, Q14676

Tissue specificity: Highly expressed in testis

SABiosciences Expression via Pathway-Focused PCR Array including MDC1:

DNA Damage Signaling Pathway in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MDC1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MDC1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MDC1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDC1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for MDC1 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mdc1^{1 , 5}	mediator of DNA damage checkpoint 1^{1, 5}	69.44(n)¹ 55.11(a)¹		17 (18.70 cM)⁵ 240087¹ NM_001010833.2¹ NP_001010833.2¹ 35841515⁵
zebrafish (Danio rerio)	Actinopterygii	im:7163673⁶	im:7163673	17(a)	1 ↔ 1	16(11947107-11963017)
honey bee (Apis mellifera)	Insecta	--	--	15(a)	1 ↔ 1	Group3.12(224245-234037)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G41450⁶ AT4G03130⁶ (see all 3)	BRCT domain-containing DNA repair protein (see all 3)	12(a) 10(a) (see all 3)	many → 1 many → 1 (see all 3)	2(17278158-17281830) 4(1387781-1390646)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	expressed protein acetyltransferase, GNAT family, putative, expresse... (see all 3)	8(a) 14(a) (see all 3)	many → 1 many → 1 (see all 3)	5(2703371-2711899) 5(18109856-18122349)

ENSEMBL Gene Tree for MDC1 (if available)
TreeFam Gene Tree for MDC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for MDC1 gene

PAXIP1²

MDC1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs184543909^1,2		--	30667091(+)	`AACCCC/TGTCTC`	1	--	ds500¹		0	--	--	--	--
rs200337574^1,2		--	30667278(+)	`ACAAT-/AAAAAA`	1	--	ds500¹		0	--	--	--	--
rs150016503^1,2		--	30667351(+)	`TGGGAC/GTATTG`	1	--	ds500¹		0	--	--	--	--
rs144270739^1,2		--	30667808(+)	`AGTAAA/GAATCT`	1	--	ut3¹		0	--	--	--	--
rs13200913^1,2	C	--	30667846(+)	`CAAATA/GGGAGG`	1	--	ut3¹		1		NA	2
rs188942971^1,2		--	30667922(+)	`GACATA/CTGAGC`	1	--	ut3¹		0	--	--	--	--
rs148773470^1,2		--	30667938(+)	`ACTAGC/TTAATT`	1	--	ut3¹		0	--	--	--	--
rs139775092^1,2	C	--	30668046(+)	`TAAAA-/AAAC AAACA`	1	--	ut3¹		0	--	--	--	--
rs199502906^1,2		--	30668061(+)	`ACAAA-/CAAAAA`	1	--	ut3¹		0	--	--	--	--
rs61059475^1,2	C	--	30668071(+)	`AACAAC/GCTGTG`	1	--	ut3¹		3		WA NA	240

HapMap Linkage Disequilibrium report for MDC1 (30667584 - 30685666 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MDC1
1 CNV: 3600

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MDC1 for disorders           About GeneDecksing

OMIM gene information: 607593    OMIM disorders: --

18 diseases for MDC1:    About MalaCards

nijmegen breakage syndrome systemic lupus erythematosus seckel syndrome lupus erythematosus

ataxia telangiectasia chronic lymphocytic leukemia lymphocytic leukemia hereditary pancreatitis

ataxia esophageal cancer esophagitis pancreatitis

pancreatic cancer leukemia lung cancer myeloma

prostatitis neuronitis

1 disease from the University of Copenhagen DISEASES database for MDC1:

Nijmegen breakage syndrome

1 Novoseek disease relationship for MDC1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
breast cancer	0	4	12551934 (1), 18582474 (1)

Human Genome Epidemiology (HuGE) Navigator: MDC1 (8 documents)

Export disorders for MDC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MDC1 gene, integrated from 9 sources (see all 140):
(articles sorted by number of sources associating them with MDC1)

Utopia: connect your pdf to the dynamic
world of online information

MDC1 is a mediator of the mammalian DNA damage checkpoint. (PubMed id 12607005)^{1, 2, 3, 9} Stewart G.S....Elledge S.J. (2003)
NFBD1, a novel nuclear protein with signature motifs of FHA and BRCT, and an internal 41-amino acid repeat sequence, is an early participant in DNA damage response. (PubMed id 12475977)^{1, 2, 9} Shang Y.L.... Chen P.-L. (2003)
NFBD1, like 53BP1, is an early and redundant transducer mediating Chk2 phosphorylation in response to DNA damage. (PubMed id 12551934)^{1, 2, 9} Peng A. and Chen P.-L. (2003)
Mediator of DNA damage checkpoint protein 1 regulates BRCA1 localization and phosphorylation in DNA damage checkpoint control. (PubMed id 12611903)^{1, 2, 9} Lou Z.... Chen J. (2003)
Sumoylation of MDC1 is important for proper DNA damage response. (PubMed id 22635276)^{1, 2} Luo K.... Lou Z. (2012)
Comparison of the structures and peptide binding spec ificities of the BRCT domains of MDC1 and BRCA1. (PubMed id 20159462)^{1, 2} Campbell S.J....Glover J.N. (2010)
Orchestration of the DNA-damage response by the RNF8 ubiquitin ligase. (PubMed id 18006705)^{1, 2} Kolas N.K.... Durocher D. (2007)
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)^{1, 2} Matsuoka S.... Elledge S.J. (2007)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Structure of the BRCT repeat domain of MDC1 and its specificity for the free COOH-terminal end of the gamma-H2AX histone tail. (PubMed id 16049003)^{1, 2} Lee M.S.... Glover J.N.M. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 9656	HGNC: 21163	AceView: MDC1	Ensembl:ENSG00000137337	euGenes: HUgn9656
ECgene: MDC1	H-InvDB: MDC1

(According to HUGE)
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HUGE: KIAA0170

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MDC1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MDC1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for MDC1 gene
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Patent Information for MDC1 gene:
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mediator of DNA-damage checkpoint 1

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mediator of DNA-damage checkpoint 1

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