MDC1 - mediator of DNA damage checkpoint 1 Gene

Homo sapiens

Also known as NFBD1

Gene ID: 9656 | Gene type: protein coding

About MDC1

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:30,699,807-30,717,281 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 181 orthologues and 1 paralogue. Broad expression in testis (RPKM 20.6), thyroid (RPKM 7.4) and 25 other tissues.

Summary

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]

MDC1 Products(1)

mRNA	Protein	Name
NM_014641.3	NP_055456.2	mediator of DNA damage checkpoint protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables chromatin-protein adaptor activity	IDA IDA: Inferred from direct assay	18006705	GOA
enables histone reader activity	IDA IDA: Inferred from direct assay	16377563	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12607005	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	30898438	GOA
involved in DNA replication checkpoint signaling	IDA IDA: Inferred from direct assay	21482717	GOA
involved in protein localization to site of double-strand break	IDA IDA: Inferred from direct assay	16377563	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	15604234	GOA
is active in site of double-strand break	IDA IDA: Inferred from direct assay	16377563	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MDC1 Protein Structure

FHA

0
400
800
1200
1600
2089 a.a.

Protein Preferred Names

Protein Names

mediator of DNA damage checkpoint protein 1

homologue to Drosophila photoreceptor protein calphotin

MDC1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MDC1	Q14676	NSD2	Homo sapiens	O96028	Anti Tag CoIP	21293379
Intra	MDC1	Q14676	NSD2	Homo sapiens	O96028	Anti Bait CoIP	21293379
Intra	MDC1	Q14676	NSD2	Homo sapiens	O96028	Pull Down	21293379
Intra	MDC1	Q14676	RAD51	Homo sapiens	Q06609	Pull Down	16186822
Intra	MDC1	Q14676	RAD51	Homo sapiens	Q06609	Anti Bait CoIP	16186822
Intra	MDC1	Q14676	BRCA1	Homo sapiens	P38398	BioID	29656893
Intra	MDC1	Q14676	RNF8	Homo sapiens	O76064	IF	18001825
Intra	MDC1	Q14676	RNF8	Homo sapiens	O76064	Anti Tag CoIP	18001824
Intra	MDC1	Q14676	RNF8	Homo sapiens	O76064	Confocal	18001824
Intra	MDC1	Q14676	RNF8	Homo sapiens	O76064	Pull Down	18001825
Intra	MDC1	Q14676	RNF8	Homo sapiens	O76064	ITC	18001825
Intra	MDC1	Q14676	H2AX	Homo sapiens	P16104	Confocal	18001824
Intra	MDC1	Q14676	H2AX	Homo sapiens	P16104	Enzymatic Footprint	16377563
Intra	MDC1	Q14676	H2AX	Homo sapiens	P16104	ITC	16377563
Intra	MDC1	Q14676	H2AX	Homo sapiens	P16104	Pull Down	16377563
Intra	MDC1	Q14676	H2AX	Homo sapiens	P16104	SPR	21293379
Intra	MDC1	Q14676	H2AX	Homo sapiens	P16104	FPS	20159462
Intra	MDC1	Q14676	H2AX	Homo sapiens	P16104	IF	18001825
Intra	MDC1	Q14676	H2AX	Homo sapiens	P16104	Pull Down	12607005
Intra	MDC1	Q14676	H2AX	Homo sapiens	P16104	CoIP	12607005
Intra	MDC1	Q14676	NBN	Homo sapiens	O60934	BioID	29656893
Intra	MDC1	Q14676	NBN	Homo sapiens	O60934	ITC	19804756
Intra	MDC1	Q14676	NBN	Homo sapiens	O60934	Pull Down	18583988
Intra	MDC1	Q14676	NBN	Homo sapiens	O60934	Anti Tag CoIP	19804756
Intra	MDC1	Q14676	NBN	Homo sapiens	O60934	CoIP	12607005
Intra	MDC1	Q14676	NBN	Homo sapiens	O60934	Pull Down	20224574
Intra	MDC1	Q14676	NBN	Homo sapiens	O60934	Anti Bait CoIP	18678890
Intra	MDC1	Q14676	NBN	Homo sapiens	O60934	Anti Tag CoIP	18583988
Intra	MDC1	Q14676	ATM	Homo sapiens	Q13315	CoIP	12607005
Intra	MDC1	Q14676	ATM	Homo sapiens	Q13315	BioID	29656893

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Nijmegen Breakage Syndrome

Berlin Breakage Syndrome	NBS
Microcephaly, Normal Intelligence And Immunodeficiency	Ataxia-Telangiectasia Variant
Ataxia-Telangiectasia Variant V1	Seemanova Syndrome Ii
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome	Seemanova Syndrome Type 2
At-V1	Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies
Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence	Immunodeficiency, Microcephaly, And Chromosomal Instability
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome	Microcephaly Immunodeficiency Lymphoreticuloma
Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies	Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence
Seemanova Syndrome 2	Ataxia-Telangiectasia Variant 1
Seemanova Syndrome	At V1
Ataxia-Telangiectasia, Variant 1	Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome
V-At	Ataxia Telangiectasia Variant V1

Dyskeratosis Congenita, Autosomal Recessive 3

DKCB3	Autosomal Recessive Dyskeratosis Congenita 3
Dyskeratosis Congenita, Autosomal Recessive, 3	Dyskeratosis Congenita, Autosomal Recessive, Type 3

Cornelia De Lange Syndrome

De Lange Syndrome	Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome	Cdls
Bdls	Typus Degenerativus Amstelodamensis

Ataxia-Telangiectasia

Ataxia Telangiectasia	Louis-Bar Syndrome
AT	At1
Ataxia-Telangiectasia Syndrome	Ataxia - Telangiectasia Variant
Boder-Sedgwick Syndrome	Louis Bar Syndrome
Cerebello-Oculocutaneous Telangiectasia	Immunodeficiency With Ataxia Telangiectasia
A-T	Ataxia Telangiectasia Syndrome
Atm	Telangiectasia, Cerebello-Oculocutaneous
Ataxia-Telangiectasia Variant

Riddle Syndrome

RIDL	Radiosensitivity-Immunodeficiency-Dysmorphic Features-Learning Difficulties Syndrome
Rnf168 Deficiency	Radiosensitivity, Immunodeficiency, Dysmorphic Facial Features, And Learning Difficulties
Radiosensitivity, Immunodeficiency, Dysmorphic Features, And Learning Difficulties

Autosomal Recessive Cerebellar Ataxia

Arca

Lig4 Syndrome

Dna Ligase Iv Deficiency	Ligase 4 Syndrome
LIG4S

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome	Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
Breast And/Or Ovarian Cancer	Breast And Ovarian Cancer Syndrome
Hboc Syndrome	Hereditary Breast And Ovarian Cancer
Brca1- Brca2-Associated Hboc

Aplastic Anemia

Aplastic Anemia, Susceptibility To	Anemia Aplastic
Idiopathic Aplastic Anemia	Secondary Aplastic Anemia
Idiopathic Bone Marrow Failure	Aplastic Anemia Idiopathic
AA	Anemia, Aplastic
Aplastic Anemia, Idiopathic	Erythroid Aplasia
Aa - [Aplastic Anaemia]	Haematopoietic Aplasia
Aleukia Haemorrhagica	Anaemia Due To Decreased Red Cell Production
Aplasia Bone Marrow	Aplastic Bone Marrow
Hypoplastic Anaemia Nos	Myeloid Bone Marrow Aplasia
Pancytopenia	Panhaematopenia
Hypoproliferative Anaemia	Medullary Hypoplasia
Red Blood Cells Hypoplastic Anaemia	Panmyelophthisis
Panhemocytopenia	Refractive Hypoproliferative Anaemia
Toxic Anaemia	Toxic Aplastic Anaemia
Aplastic Anaemia Due To Toxic Cause	Idiopathic Aplastic Anaemia Nos

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08255	MDC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MDC1	RGD	RGD:1559468
Felis catus	MDC1	VGNC	VGNC:63424
Mus musculus	MDC1	MGD	MGI:3525201
Bos taurus	MDC1	VGNC	VGNC:31328
Canis familiaris	MDC1	VGNC	VGNC:43098
Macaca mulatta	MDC1	VGNC	VGNC:83433
Others	MDC1	NCBI

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