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MDC1 Gene

protein-coding   GIFtS: 65
GCID: GC06M030667

Mediator Of DNA-Damage Checkpoint 1

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mediator Of DNA-Damage Checkpoint 11 2     Homologue To Drosophila Photoreceptor Protein Calphotin2
NFBD12 3 5     Mediator Of DNA Damage Checkpoint 12
Nuclear Factor With BRCT Domains 12 3     Mediator Of DNA Damage Checkpoint Protein 12
KIAA01703 5     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MDC1 Gene:
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)

GeneCards Summary for MDC1 Gene:
MDC1 (mediator of DNA-damage checkpoint 1) is a protein-coding gene. Diseases associated with MDC1 include hereditary pancreatitis, and seckel syndrome. GO annotations related to this gene include protein C-terminus binding and FHA domain binding. An important paralog of this gene is PAXIP1.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NT_113891.3  NT_167244.2  NT_167245.2  NT_167246.2  NT_167247.2  NT_167248.2  
NT_167249.2  NC_018917.2  
Regulatory elements:
   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 Chromatin IP Primers for MDC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

Selected alternative locations (see all 7):
Chr6-,NT_167244 1,979,228-1,997,101      Chr6-,NT_167245 1,961,244-1,979,117      Chr6-,NT_167247 2,049,468-2,067,341     
Chr6-,NT_113891.2 2,179,653-2,197,527      Chr6-,NT_167249 1,999,891-2,017,765      Chr6-,NT_167248 1,960,516-1,978,389     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
Sequence caution: Sequence=BAA11487.2; Type=Erroneous initiation; Sequence=CAH18685.1; Type=Erroneous termination;
Positions=1804; Note=Translated as Gln;
Selected PDB 3D structures from and Proteopedia for MDC1 (see all 10):
2ADO (3D)        2AZM (3D)        2ETX (3D)        3K05 (3D)        3UEO (3D)        3UMZ (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

Explore proteomics data for MDC1 at MOPED

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
  • Ubiquitination2 at Lys45
  • Modification sites at PhosphoSitePlus

  • See MDC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055456.2  
    ENSEMBL proteins: 
     ENSP00000365588   ENSP00000408962   ENSP00000400979   ENSP00000396989   ENSP00000411310  
     ENSP00000365587  
    Reactome Protein details: Q14676

    MDC1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MDC1

    MDC1 Antibody Products:

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    Abcam antibodies for MDC1
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    MDC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MDC1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MDC1
    Cloud-Clone Corp. CLIAs for MDC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     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 domains:
    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


    MDC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12607005
    GO:0008022protein C-terminus binding IPI17577209
    GO:0070975FHA 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/body  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  no phenotypic analysis  reproductive system 

    MDC1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MDC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MDC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MDC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MDC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MDC1:
    hsa-mir-18a-5p (MIRT050697), hsa-mir-17-3p (MIRT050762), hsa-mir-1 (MIRT023516), hsa-mir-361-5p (MIRT044086), hsa-mir-615-3p (MIRT040462), hsa-mir-877-3p (MIRT036863), hsa-mir-505-3p (MIRT041049), hsa-mir-215-5p (MIRT024535), hsa-mir-18a-3p (MIRT040912), hsa-mir-324-5p (MIRT043058)

    Block miRNA regulation of human, mouse, rat MDC1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidMDC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MDC1
    Predesigned siRNA for gene silencing in human, mouse, rat MDC1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: MDC1 (NM_014641)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MDC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MDC1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MDC1_HUMAN, Q14676: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005694chromosome ISS--
    GO:0005730NOT nucleolus IDA--
    GO:0005925focal adhesion IDA--

    MDC1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MDC1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Homologous Recombination Repair
    Homologous Recombination Repair0.70
    Recruitment of repair and signaling proteins to double-strand breaks0.00
    Double-Strand Break Repair0.70
    Homologous recombination repair of replication-independent double-strand breaks0.00
    ATM mediated response to DNA double-strand break0.31
    ATM mediated phosphorylation of repair proteins0.00
    2DNA Repair
    DNA Repair0.45
    3DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage Role of Brca1 and Brca2 in DNA repair
    4DNA damage DNA damage induced responses
    DNA damage DNA damage induced responses
    5DNA damage ATM ATR regulation of G1 S checkpoint
    DNA damage ATM ATR regulation of G1 S checkpoint

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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

    2 Reactome Pathways for MDC1
        Recruitment of repair and signaling proteins to double-strand breaks
    ATM mediated phosphorylation of repair proteins



    MDC1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MDC1: 
              DNA Damage Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MDC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MDC1 (Q146761, 2, 3 ENSP000003655884) via UniProtKB, MINT, STRING, and/or I2D (see all 98)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NBNO609341, 2, 3, ENSP000002654334EBI-495644,EBI-494844 MINT-6805462 MINT-7891588 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
    H2AFXP161041, 2, 3, ENSP000003643104EBI-495644,EBI-494830 MINT-6805304 I2D: score=4 STRING: ENSP00000364310
    MRE11AP499592, 3MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805250 MINT-6805281 MINT-6805549 MINT-6805304 MINT-6805376 I2D: score=3 
    RAD50Q928782, 3MINT-6805549 MINT-6805304 MINT-6805435 MINT-6805527 MINT-6805376 MINT-6805327 MINT-6805250 MINT-6805281 I2D: score=3 
    CSNK2A1P684002, 3MINT-6805408 I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination TAS--
    GO:0006281DNA repair TAS--
    GO:0006302double-strand break repair TAS--
    GO:0031573intra-S DNA damage checkpoint TAS17577209

    MDC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MDC1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR 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 plasmidMDC1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: MDC1 (NM_014641)
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      QuantiTect SYBR Green Assays in human, mouse, rat MDC1
      QuantiFast Probe-based Assays in human, mouse, rat MDC1

    Additional mRNA 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 CR749828 BI053907 AA834198 AW361872 BE177140 BF331944 AW370574 
    AF049565 BI023383 BE177118 BI053834 BF355434 BE694194 AW580204 BE177176 
    BI023382 BF326101 BE082779 BF919122 BQ301344 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MDC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTGGGACCA
    MDC1 Expression
    About this image


    MDC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
    MDC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MDC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.653495

    UniProtKB/Swiss-Prot: MDC1_HUMAN, Q14676
    Tissue specificity: Highly expressed in testis

        Pathway & Disease-focused RT2 Profiler PCR Array including MDC1: 
              DNA Damage Signaling Pathway in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for MDC1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mdc11 , 5 mediator of DNA damage checkpoint 11, 5 70.86(n)1
    56.72(a)1
      17 (18.70 cM)5
    2400871  NM_001010833.21  NP_001010833.21 
     358415155 
    lizard
    (Anolis carolinensis)
    Reptilia MDC16
    mediator of DNA-damage checkpoint 1
    19(a)
    1 ↔ 1
    GL343438.1(742746-770961)
    zebrafish
    (Danio rerio)
    Actinopterygii MDC16
    mediator of DNA-damage checkpoint 1
    16(a)
    1 ↔ 1
    16(11947107-11963017) ENSDARG00000086764
    fruit fly
    (Drosophila melanogaster)
    Insecta ptip6
    --
    8(a)
    1 → many
    3L(14013415-14022221)
    worm
    (Caenorhabditis elegans)
    Secernentea pis-16
    Protein PIS-1, isoform a (pis-1) mRNA, complete cd...
    12(a)
    1 → many
    IV(9791940-9796589) WBGene00004031


    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, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MDC1 (see all 601)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1845439091,2
    --30667091(+) AACCCC/TGTCTC 1 -- ds50010--------
    rs2003375741,2
    --30667278(+) ACAAT-/AAAAAA 1 -- ds50010--------
    rs1500165031,2
    C--30667351(+) TGGGAC/GTATTG 1 -- ds50010--------
    rs2007471531,2
    C--30667444(+) TCAAG-/AAAAAA 1 -- ds50010--------
    rs2019206971,2
    C--30667524(+) ATGAC-/TTTTTT 1 -- ds50010--------
    rs1128046501,2
    C--30667717(+) GCCAGA/GAGAGA 1 -- ut310--------
    rs1442707391,2
    C--30667808(+) AGTAAA/GAATCT 1 -- ut310--------
    rs132009131,2
    C--30667846(+) CAAATA/GGGAGG 1 -- ut311Minor allele frequency- G:0.00NA 2
    rs1889429711,2
    --30667922(+) GACATA/CTGAGC 1 -- ut310--------
    rs1487734701,2
    --30667938(+) ACTAGC/TTAATT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MDC1 (30667584 - 30685666 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MDC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670269CNV Deletion23128226
    esv2731797CNV Deletion23290073
    esv2731796CNV Deletion23290073
    esv2731791CNV Deletion23290073
    esv2731798CNV Deletion23290073
    nsv830626CNV Loss17160897
    nsv884086CNV Gain21882294
    dgv1917e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607593    OMIM disorders: --

    Selected diseases for MDC1 (see all 27):    
    About MalaCards
    hereditary pancreatitis    seckel syndrome    nijmegen breakage syndrome    ataxia telangiectasia
    esophageal cancer    ataxia    cervical cancer    chronic lymphocytic leukemia
    pancreatitis    esophageal squamous cell carcinoma    systemic lupus erythematosus    esophagitis
    lupus erythematosus    cervicitis    pancreatic cancer    tonsillitis
    squamous cell carcinoma    lung cancer    leukemia    multiple myeloma

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

    MDC1 for disorders           About GeneDecksing

    1 Novoseek inferred 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)

    Genetic Association Database (GAD): MDC1
    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 10 sources (see all 152):
    (articles sorted by number of sources associating them with MDC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MDC1 is a mediator of the mammalian DNA damage checkpoint. (PubMed id 12607005)1, 2, 3, 9 Stewart G.S.... Elledge S.J. (Nature 2003)
    2. 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. (J. Biol. Chem. 2003)
    3. 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. (J. Biol. Chem. 2003)
    4. 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. (J. Biol. Chem. 2003)
    5. Sequence variant discovery in DNA repair genes from radiosensitive and radiotolerant prostate brachytherapy patients. (PubMed id 19638463)1, 4, 9 Pugh T.J....Moore R.A. (Clin. Cancer Res. 2009)
    6. Sumoylation of MDC1 is important for proper DNA damage response. (PubMed id 22635276)1, 2 Luo K.... Lou Z. (EMBO J. 2012)
    7. Comparison of the structures and peptide binding specificities of the BRCT domains of MDC1 and BRCA1. (PubMed id 20159462)1, 2 Campbell S.J.... Glover J.N. (Structure 2010)
    8. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1, 4 Ucisik-Akkaya E....Dorak M.T. (Mol. Hum. Reprod. 2010)
    9. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    10. Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk. (PubMed id 19690177)1, 4 McWilliams R.R....Petersen G.M. (amp 2009)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MDC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MDC1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MDC1 gene:
    Search GeneIP for patents involving MDC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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