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    Mdc1 mediator of DNA damage checkpoint 1 [ Mus musculus (house mouse) ]

    Gene ID: 240087, updated on 12-Mar-2019

    Summary

    Official Symbol
    Mdc1provided by MGI
    Official Full Name
    mediator of DNA damage checkpoint 1provided by MGI
    Primary source
    MGI:MGI:3525201
    See related
    Ensembl:ENSMUSG00000061607
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Nfbd1; AA413496; mKIAA0170; 6820401C03
    Summary
    The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 7 divergent copies 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. Mice with mutations in this gene exhibit growth retardation, male infertility, immune defects, chromosome instability, DNA repair defects, and radiation sensitivity. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis adult (RPKM 20.0), CNS E11.5 (RPKM 9.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See Mdc1 in Genome Data Viewer
    Location:
    17; 17 B1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 17 NC_000083.6 (35841490..35859670)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 17 NC_000083.5 (35978443..35996615)

    Chromosome 17 - NC_000083.6Genomic Context describing neighboring genes Neighboring gene tubulin, beta 5 class I Neighboring gene predicted gene, 32463 Neighboring gene nurim (nuclear envelope membrane protein) Neighboring gene protein phosphatase 1, regulatory subunit 18

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    FHA domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein C-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
    PubMed 

    General protein information

    Preferred Names
    mediator of DNA damage checkpoint protein 1
    Names
    mediation of DNA damage checkpoint 1

    NCBI Reference Sequences (RefSeq)

    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_001010833.2NP_001010833.2  mediator of DNA damage checkpoint protein 1

      See identical proteins and their annotated locations for NP_001010833.2

      Status: REVIEWED

      Source sequence(s)
      AK033009, BC085140, BC094363, BY022698, CR974451
      Consensus CDS
      CCDS37604.1
      UniProtKB/Swiss-Prot
      Q5PSV9
      UniProtKB/TrEMBL
      E9QK89
      Related
      ENSMUSP00000080949.6, ENSMUST00000082337.12
      Conserved Domains (2) summary
      cd00027
      Location:15251577
      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:55110
      FHA; FHA domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000083.6 Reference GRCm38.p4 C57BL/6J

      Range
      35841490..35859670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524262.3XP_006524325.1  mediator of DNA damage checkpoint protein 1 isoform X2

      Conserved Domains (2) summary
      cd00027
      Location:15241576
      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:55110
      FHA; FHA domain
    2. XM_006524263.3XP_006524326.1  mediator of DNA damage checkpoint protein 1 isoform X3

      Conserved Domains (3) summary
      COG1716
      Location:56125
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00027
      Location:13611413
      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:55110
      FHA; FHA domain
    3. XM_006524264.3XP_006524327.1  mediator of DNA damage checkpoint protein 1 isoform X4

      Conserved Domains (3) summary
      COG1716
      Location:56125
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00027
      Location:13601412
      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:55110
      FHA; FHA domain
    4. XM_006524260.1XP_006524323.1  mediator of DNA damage checkpoint protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006524323.1

      UniProtKB/TrEMBL
      E9QK89
      Conserved Domains (2) summary
      cd00027
      Location:15251577
      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:55110
      FHA; FHA domain
    5. XM_006524261.3XP_006524324.1  mediator of DNA damage checkpoint protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006524324.1

      UniProtKB/TrEMBL
      E9QK89
      Conserved Domains (2) summary
      cd00027
      Location:15251577
      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:55110
      FHA; FHA domain

    RNA

    1. XR_385325.2 RNA Sequence

    Reference GRCm38.p4 NOD/MrkTac

    Genomic

    1. NT_187027.1 Reference GRCm38.p4 NOD/MrkTac

      Range
      2151338..2169321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCm38.p4 NOD/ShiLtJ

    Genomic

    1. NT_187004.1 Reference GRCm38.p4 NOD/ShiLtJ

      Range
      2174964..2192947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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