AutismKB 2.0

Annotation Details for MDC1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MDC1 ( DKFZp781A0122,KIAA0170,MGC166888,NFBD1 )
Gene Full Name: mediator of DNA-damage checkpoint 1
Band: 6p21.33
Quick LinksEntrez ID:9656; OMIM: 607593; Uniprot ID:MDC1_HUMAN; ENSEMBL ID: ENSG00000137337; HGNC ID: 21163
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus15604234
GO:0005654IDA-nucleoplasm-
GO:0005654TAS-nucleoplasm-
GO:0005694ISS-chromosome-
GO:0005925IDA-focal adhesion-
GO:0016604IDA-nuclear body-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding12607005
GO:0008022IPI-protein C-terminus binding17577209
GO:0070975IPI-FHA domain binding20008512
GO ID Evidence Qualifier GO_term References
GO:0006303TAS-double-strand break repair via nonhomologous end joining-
GO:0031573TAS-intra-S DNA damage checkpoint17577209
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MDC1ATM11501414519663 Affinity Capture-Western
MDC1ATM10696214519663 Affinity Capture-Western
MDC1BRCA110714017525332 Affinity Capture-Western
MDC1BRCA111501417525332 Affinity Capture-Western
MDC1CDC2711501417827148 Affinity Capture-Western; Reconstituted Complex
MDC1CDC2710743117827148 Affinity Capture-Western; Reconstituted Complex
MDC1CENPC110748914578343 Protein-peptide
MDC1CENPC111501414578343 Protein-peptide
MDC1GATA411501414578343 Protein-peptide
MDC1GATA410889614578343 Protein-peptide
MDC1H2AFX11501412607005 14519663 15201865 Affinity Capture-Western; Reconstituted Complex
MDC1H2AFX10926812607005 14519663 15201865 Affinity Capture-Western; Reconstituted Complex
MDC1MDM211501414578343 Protein-peptide
MDC1MDM211035814578343 Protein-peptide
MDC1MRE11A11501412607003 14519663 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
MDC1MRE11A11050112607003 14519663 Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
MDC1NBN11076312607003 14519663 15201865 Affinity Capture-Western
MDC1NBN11501412607003 14519663 15201865 Affinity Capture-Western
MDC1POLR2A11142614578343 Protein-peptide
MDC1POLR2A11501414578343 Protein-peptide
MDC1RAD5111501416186822 Affinity Capture-Western; Reconstituted Complex
MDC1RAD5111182516186822 Affinity Capture-Western; Reconstituted Complex
MDC1SUMO211249719394292 Affinity Capture-MS
MDC1SUMO211501419394292 Affinity Capture-MS
MDC1TP5311301014519663 Affinity Capture-Western
MDC1TP5311501414519663 Affinity Capture-Western
MDC1TP53BP111301117925396 18986980 Affinity Capture-Western; Co-localization; Reconstituted Complex
MDC1TP53BP111501417925396 18986980 Affinity Capture-Western; Co-localization; Reconstituted Complex
MDC1UBC11316418757370 Affinity Capture-Western
MDC1UBC11501418757370 Affinity Capture-Western
MDC1WRN11501414578343 Protein-peptide
MDC1WRN11332314578343 Protein-peptide
MDC1BANF111501419759913 Affinity Capture-MS
MDC1BANF111434219759913 Affinity Capture-MS
MDC1CDC1611501417827148 Affinity Capture-MS; Affinity Capture-Western
MDC1CDC1611440017827148 Affinity Capture-MS; Affinity Capture-Western
MDC1RNF811501418001824 18001825 Affinity Capture-Western; Reconstituted Complex
MDC1RNF811449218001824 18001825 Affinity Capture-Western; Reconstituted Complex
RAD50MDC111501412607003 14519663 Affinity Capture-Western
RAD50MDC111541712607003 14519663 Affinity Capture-Western
CHEK2MDC111501412607004 Affinity Capture-Western; Reconstituted Complex
CHEK2MDC111636912607004 Affinity Capture-Western; Reconstituted Complex
HDAC8MDC112096814578343 Protein-peptide
HDAC8MDC111501414578343 Protein-peptide
HDAC10MDC112381814578343 Protein-peptide
HDAC10MDC111501414578343 Protein-peptide
MCPH1MDC112277616872911 Co-localization
MCPH1MDC111501416872911 Co-localization
USP28MDC112168316901786 Affinity Capture-Western
USP28MDC111501416901786 Affinity Capture-Western
ANAPC5MDC111501417827148 Affinity Capture-MS
ANAPC5MDC111953717827148 Affinity Capture-MS
ANAPC1MDC112222917827148 Affinity Capture-MS
ANAPC1MDC111501417827148 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:3525201
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved