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    Mdc1 mediator of DNA damage checkpoint 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 309595, updated on 9-Dec-2024

    Summary

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    Symbol
    Mdc1provided by RGD
    Full Name
    mediator of DNA damage checkpoint 1provided by RGD
    Primary source
    RGD:1559468
    See related
    EnsemblRapid:ENSRNOG00000032813 AllianceGenome:RGD:1559468
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable histone reader activity. Predicted to be involved in DNA damage response; DNA replication checkpoint signaling; and protein localization to site of double-strand break. Predicted to be located in chromosome; focal adhesion; and nuclear body. Predicted to be active in site of double-strand break. Orthologous to human MDC1 (mediator of DNA damage checkpoint 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 103.5), Spleen (RPKM 88.4) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Mdc1 in Genome Data Viewer
    Location:
    20p12
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 20 NC_086038.1 (2898496..2914960, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 20 NC_051355.1 (2893693..2912394, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 20 NC_005119.4 (3405017..3419831, complement)

    Chromosome 20 - NC_086038.1Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1, regulatory subunit 18 Neighboring gene microRNA 6328 Neighboring gene nurim Neighboring gene tubulin, beta 5 class I Neighboring gene flotillin 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Loss of BRCA1 expression leads to worse survival in patients with gastric carcinoma. Zhang ZZ, et al. World J Gastroenterol, 2013 Mar 28. PMID 23569343, Free PMC Article
    2. NFBD1/MDC1 is a protein of oncogenic potential in human cervical cancer. Yuan C, et al. Mol Cell Biochem, 2012 Jan. PMID 21853275
    3. DNA damage response mediators MDC1 and 53BP1: constitutive activation and aberrant loss in breast and lung cancer, but not in testicular germ cell tumours. Bartkova J, et al. Oncogene, 2007 Nov 22. PMID 17546051
    4. MMSET regulates histone H4K20 methylation and 53BP1 accumulation at DNA damage sites. Pei H, et al. Nature, 2011 Feb 3. PMID 21293379, Free PMC Article
    5. CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. Becherel OJ, et al. Nucleic Acids Res, 2010 Mar. PMID 20008512, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Clone Names

    • KIAA0170

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables chromatin-protein adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables chromatin-protein adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables histone reader activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables histone reader activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA replication checkpoint signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA replication checkpoint signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to site of double-strand break ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to site of double-strand break ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in focal adhesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in site of double-strand break ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in site of double-strand break ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    mediator of DNA damage checkpoint protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001166275.1 → NP_001159747.1  mediator of DNA damage checkpoint protein 1

      See identical proteins and their annotated locations for NP_001159747.1

      Status: VALIDATED

      Source sequence(s)
      BC085955
      UniProtKB/Swiss-Prot
      Q5U2M8, Q6MG15
      Related
      ENSRNOP00000049009.4, ENSRNOT00000046798.6
      Conserved Domains (3) summary
      cd00027
      Location:1099 → 1151
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      pfam00498
      Location:55 → 110
      FHA; FHA domain
      pfam00533
      Location:1186 → 1259
      BRCT; BRCA1 C Terminus (BRCT) domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086038.1 Reference GRCr8

      Range
      2898496..2914960 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039098645.2 → XP_038954573.1  mediator of DNA damage checkpoint protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A8I6AKS9
      Related
      ENSRNOP00000095067.1, ENSRNOT00000081676.3
      Conserved Domains (6) summary
      PHA03307
      Location:500 → 868
      PHA03307; transcriptional regulator ICP4; Provisional
      COG5271
      Location:197 → 370
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
      pfam05109
      Location:791 → 1232
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd17744
      Location:1345 → 1415
      BRCT_MDC1_rpt1; first BRCT domain of mediator of DNA damage checkpoint protein 1 (MDC1) and similar proteins
      cd18441
      Location:1447 → 1526
      BRCT_MDC1_rpt2; second BRCT domain of mediator of DNA damage checkpoint protein 1 (MDC1) and similar proteins
      pfam00498
      Location:55 → 110
      FHA; FHA domain

    2. XM_039098643.2 → XP_038954571.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A8I6GIV7
      Related
      ENSRNOP00000091266.3, ENSRNOT00000086914.4
      Conserved Domains (6) summary
      PHA03307
      Location:507 → 875
      PHA03307; transcriptional regulator ICP4; Provisional
      COG5271
      Location:204 → 377
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
      pfam05109
      Location:798 → 1239
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd17744
      Location:1352 → 1422
      BRCT_MDC1_rpt1; first BRCT domain of mediator of DNA damage checkpoint protein 1 (MDC1) and similar proteins
      cd18441
      Location:1454 → 1533
      BRCT_MDC1_rpt2; second BRCT domain of mediator of DNA damage checkpoint protein 1 (MDC1) and similar proteins
      pfam00498
      Location:62 → 117
      FHA; FHA domain

    3. XM_039098647.1 → XP_038954575.1  mediator of DNA damage checkpoint protein 1 isoform X3

      Conserved Domains (6) summary
      PHA03307
      Location:507 → 875
      PHA03307; transcriptional regulator ICP4; Provisional
      COG5271
      Location:204 → 377
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
      pfam05109
      Location:782 → 1006
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd17744
      Location:1093 → 1163
      BRCT_MDC1_rpt1; first BRCT domain of mediator of DNA damage checkpoint protein 1 (MDC1) and similar proteins
      cd18441
      Location:1195 → 1274
      BRCT_MDC1_rpt2; second BRCT domain of mediator of DNA damage checkpoint protein 1 (MDC1) and similar proteins
      pfam00498
      Location:62 → 117
      FHA; FHA domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5U2M8.2 GenPept UniProtKB/Swiss-Prot:Q5U2M8

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