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MDC1 mediator of DNA damage checkpoint 1 [ Homo sapiens (human) ]

Gene ID: 9656, updated on 4-Oct-2020

Summary

Official Symbol
MDC1provided by HGNC
Official Full Name
mediator of DNA damage checkpoint 1provided by HGNC
Primary source
HGNC:HGNC:21163
See related
Ensembl:ENSG00000137337 MIM:607593
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NFBD1
Summary
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]
Expression
Broad expression in testis (RPKM 20.6), thyroid (RPKM 7.4) and 25 other tissues See more
Orthologs

Genomic context

See MDC1 in Genome Data Viewer
Location:
6p21.33
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (30699807..30717988, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30667584..30685458, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene nurim Neighboring gene ribosomal protein L7 pseudogene 4 Neighboring gene MDC1 antisense RNA 1 Neighboring gene tubulin beta class I Neighboring gene flotillin 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0170, MGC166888, DKFZp781A0122

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FHA domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
intra-S DNA damage checkpoint TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
chromosome ISS
Inferred from Sequence or Structural Similarity
more info
 
focal adhesion IDA
Inferred from Direct Assay
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
mediator of DNA damage checkpoint protein 1
Names
homologue to Drosophila photoreceptor protein calphotin
nuclear factor with BRCT domains 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_014641.3NP_055456.2  mediator of DNA damage checkpoint protein 1

    See identical proteins and their annotated locations for NP_055456.2

    Status: REVIEWED

    Source sequence(s)
    AL662797, BU621433, D79992, EF177823
    Consensus CDS
    CCDS34384.1
    UniProtKB/Swiss-Prot
    Q14676
    UniProtKB/TrEMBL
    A0A1U9XBC1, A1Z5I9
    Related
    ENSP00000365588.3, ENST00000376406.8
    Conserved Domains (5) summary
    pfam00498
    Location:55110
    FHA; FHA domain
    cl00038
    Location:18821968
    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 ...
    cl25732
    Location:822962
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25751
    Location:9431376
    DUF4045; Domain of unknown function (DUF4045)
    cl26464
    Location:12271757
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    30699807..30717988 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249494.5XP_005249551.1  mediator of DNA damage checkpoint protein 1 isoform X3

    See identical proteins and their annotated locations for XP_005249551.1

    UniProtKB/Swiss-Prot
    Q14676
    UniProtKB/TrEMBL
    A0A1U9XBC1
    Conserved Domains (5) summary
    pfam00498
    Location:55110
    FHA; FHA domain
    cl00038
    Location:18821968
    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 ...
    cl25732
    Location:822962
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25751
    Location:9431376
    DUF4045; Domain of unknown function (DUF4045)
    cl26464
    Location:12271757
    Atrophin-1; Atrophin-1 family
  2. XM_017011520.2XP_016867009.1  mediator of DNA damage checkpoint protein 1 isoform X4

    Conserved Domains (2) summary
    cd00027
    Location:19051957
    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:55123
    FHA; FHA domain
  3. XM_017011521.2XP_016867010.1  mediator of DNA damage checkpoint protein 1 isoform X7

    Conserved Domains (2) summary
    cd00027
    Location:17161768
    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:55123
    FHA; FHA domain
  4. XM_011515001.3XP_011513303.1  mediator of DNA damage checkpoint protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011513303.1

    UniProtKB/Swiss-Prot
    Q14676
    UniProtKB/TrEMBL
    A0A1U9XBC1
    Conserved Domains (5) summary
    pfam00498
    Location:55110
    FHA; FHA domain
    cl00038
    Location:18821968
    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 ...
    cl25732
    Location:822962
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25751
    Location:9431376
    DUF4045; Domain of unknown function (DUF4045)
    cl26464
    Location:12271757
    Atrophin-1; Atrophin-1 family
  5. XM_011515004.3XP_011513306.1  mediator of DNA damage checkpoint protein 1 isoform X5

    See identical proteins and their annotated locations for XP_011513306.1

    Conserved Domains (1) summary
    cd00027
    Location:17781830
    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 ...
  6. XM_017011522.2XP_016867011.1  mediator of DNA damage checkpoint protein 1 isoform X9

  7. XM_005249493.4XP_005249550.1  mediator of DNA damage checkpoint protein 1 isoform X2

    See identical proteins and their annotated locations for XP_005249550.1

    Conserved Domains (2) summary
    cd00027
    Location:19261978
    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:76144
    FHA; FHA domain
  8. XM_005249498.4XP_005249555.1  mediator of DNA damage checkpoint protein 1 isoform X8

    See identical proteins and their annotated locations for XP_005249555.1

    Conserved Domains (2) summary
    cd00027
    Location:16631715
    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:76144
    FHA; FHA domain
  9. XM_005249497.4XP_005249554.1  mediator of DNA damage checkpoint protein 1 isoform X6

    See identical proteins and their annotated locations for XP_005249554.1

    Conserved Domains (2) summary
    cd00027
    Location:17371789
    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:76144
    FHA; FHA domain
  10. XM_005249492.2XP_005249549.1  mediator of DNA damage checkpoint protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005249549.1

    Conserved Domains (2) summary
    cd00027
    Location:19271979
    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:76144
    FHA; FHA domain
  11. XM_011515003.3XP_011513305.1  mediator of DNA damage checkpoint protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011513305.1

    UniProtKB/Swiss-Prot
    Q14676
    UniProtKB/TrEMBL
    A0A1U9XBC1
    Conserved Domains (5) summary
    pfam00498
    Location:55110
    FHA; FHA domain
    cl00038
    Location:18821968
    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 ...
    cl25732
    Location:822962
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25751
    Location:9431376
    DUF4045; Domain of unknown function (DUF4045)
    cl26464
    Location:12271757
    Atrophin-1; Atrophin-1 family
  12. XM_017011519.2XP_016867008.1  mediator of DNA damage checkpoint protein 1 isoform X3

    UniProtKB/Swiss-Prot
    Q14676
    UniProtKB/TrEMBL
    A0A1U9XBC1
    Conserved Domains (5) summary
    pfam00498
    Location:55110
    FHA; FHA domain
    cl00038
    Location:18821968
    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 ...
    cl25732
    Location:822962
    SMC_N; RecF/RecN/SMC N terminal domain
    cl25751
    Location:9431376
    DUF4045; Domain of unknown function (DUF4045)
    cl26464
    Location:12271757
    Atrophin-1; Atrophin-1 family

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    2029312..2046785 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    2179547..2197021 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    1955659..1973132 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    2010059..2027532 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    2043883..2061356 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    1954920..1972393 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    2000593..2018067 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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