MDC1 - mediator of DNA damage checkpoint 1 Gene

Also Known as NFBD1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9656

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	Verweise	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	Verweise	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	Verweise	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
2000
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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS08255	MDC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19917	Mdc1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26418	Mdc1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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