2. Gene
  3. MDC1 - mediator of DNA damage checkpoint 1 Gene

MDC1 - mediator of DNA damage checkpoint 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：DNA 损伤检查点 1 的介质

种属: Homo sapiens

同用名: NFBD1

基因 ID: 9656 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质包含一个 N 末端叉头结构域、两个 BRCA1 C 末端 (BRCT) 基序和一个具有 13 次重复的大约 41 个氨基酸序列的中心结构域。编码的蛋白质需要激活 S 期内和 G2/M 期细胞周期检查点以响应 DNA 损伤。这种核蛋白与 DNA 双链位点附近的磷酸化组蛋白 H2AX 相互作用，突破其 BRCT 基序，并促进 ATM 激酶和减数分裂重组 11 蛋白复合物向 DNA 损伤灶的募集。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_014641.3 NP_055456.2 mediator of DNA damage checkpoint protein 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables chromatin-protein adaptor activity IDA
IDA: 通过直接分析推断
18006705 GOA
enables histone reader activity IDA
IDA: 通过直接分析推断
16377563 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12607005 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
30898438 GOA
involved in DNA replication checkpoint signaling IDA
IDA: 通过直接分析推断
21482717 GOA
involved in protein localization to site of double-strand break IDA
IDA: 通过直接分析推断
16377563 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
15604234 GOA
is active in site of double-strand break IDA
IDA: 通过直接分析推断
16377563 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MDC1 蛋白结构

FHA

FHA: FHA domain (55 - 123)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2089 a.a.
蛋白主名 其他名称

mediator of DNA damage checkpoint protein 1

homologue to Drosophila photoreceptor protein calphotin

MDC1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08255 MDC1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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