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

    Gene ID: 9656, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:21163
    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
    mouse all
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    Genomic context

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    See MDC1 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30699807..30717281, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30564011..30584416, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30667584..30685058, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 18 Neighboring gene nurim Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30668297-30668798 Neighboring gene ribosomal protein L7 pseudogene 4 Neighboring gene MDC1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30683707-30684454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30685203-30685950 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30687755-30688653 Neighboring gene tubulin beta class I Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30698119-30698743 Neighboring gene flotillin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30709349-30710229

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. NFBD1/KIAA0170 is a novel nuclear transcriptional transactivator with BRCT domain. Ozaki T, et al. DNA Cell Biol, 2000 Aug. PMID 10975465
    2. Impacts of lipid-related metabolites, adiposity, and genetic background on blood eosinophil counts: the Nagahama study. Nishi K, et al. Sci Rep, 2021 Jul 28. PMID 34321534, Free PMC Article
    3. Knockdown of NFBD1/MDC1 enhances chemosensitivity to cisplatin or 5-fluorouracil in nasopharyngeal carcinoma CNE1 cells. Zeng Q, et al. Mol Cell Biochem, 2016 Jul. PMID 27334757
    4. Depletion of NFBD1/MDC1 Induces Apoptosis in Nasopharyngeal Carcinoma Cells Through the p53-ROS-Mitochondrial Pathway. Wang Z, et al. Oncol Res, 2017 Jan 2. PMID 28081741, Free PMC Article
    5. Mediator of DNA damage checkpoint protein 1 (MDC1) as a prognostic marker for patients with oral squamous cell carcinoma. Dave JH, et al. J Oral Pathol Med, 2017 Apr. PMID 28161894

    See all (260) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epigenome-wide Association Study Shows Differential DNA Methylation of MDC1, KLF9, and CUTA in Autoimmune Thyroid Disease.
      Title: Epigenome-wide Association Study Shows Differential DNA Methylation of MDC1, KLF9, and CUTA in Autoimmune Thyroid Disease.
    2. A positive feedback loop between ID3 and PPARgamma via DNA damage repair regulates the efficacy of radiotherapy for rectal cancer.
      Title: A positive feedback loop between ID3 and PPARγ via DNA damage repair regulates the efficacy of radiotherapy for rectal cancer.
    3. MDC1 maintains active elongation complexes of RNA polymerase II.
      Title: MDC1 maintains active elongation complexes of RNA polymerase II.
    4. Targeting MDC1 promotes apoptosis and sensitizes Imatinib resistance in CML cells by mainly disrupting non-homologous end-joining repair.
      Title: Targeting MDC1 promotes apoptosis and sensitizes Imatinib resistance in CML cells by mainly disrupting non-homologous end-joining repair.
    5. Loss of ID3 in pancreatic cancer cells increases DNA damage without impairing MDC1 recruitment to the nuclear foci.
      Title: Loss of ID3 in pancreatic cancer cells increases DNA damage without impairing MDC1 recruitment to the nuclear foci.
    6. Functional defects of cancer-associated MDC1 mutations in DNA damage repair.
      Title: Functional defects of cancer-associated MDC1 mutations in DNA damage repair.
    7. Mediator of DNA Damage Checkpoint 1 (MDC1) Is a Novel Estrogen Receptor Coregulator in Invasive Lobular Carcinoma of the Breast.
      Title: Mediator of DNA Damage Checkpoint 1 (MDC1) Is a Novel Estrogen Receptor Coregulator in Invasive Lobular Carcinoma of the Breast.
    8. Impacts of lipid-related metabolites, adiposity, and genetic background on blood eosinophil counts: the Nagahama study.
      Title: Impacts of lipid-related metabolites, adiposity, and genetic background on blood eosinophil counts: the Nagahama study.
    9. MDC1 depletion promotes cisplatin induced cell death in cervical cancer cells.
      Title: MDC1 depletion promotes cisplatin induced cell death in cervical cancer cells.
    10. MDC1 plays a role in tumorigenesis of oral squamous cell carcinoma
      Title: Effect of silencing of mediator of DNA damage checkpoint protein 1 on the growth of oral squamous cell carcinoma in vitro and in vivo.
    Submit: New GeneRIF Correction See all GeneRIFs (101)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0170, MGC166888, DKFZp781A0122

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin-protein adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone reader activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA replication checkpoint signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic intra-S DNA damage checkpoint signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein localization to site of double-strand break IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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)

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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_014641.3 → NP_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
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBB2, A0A1U9XBC1
      Related
      ENSP00000365588.3, ENST00000376406.8
      Conserved Domains (5) summary
      pfam00498
      Location:55 → 110
      FHA; FHA domain
      cl00038
      Location:1882 → 1968
      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:822 → 962
      SMC_N; RecF/RecN/SMC N terminal domain
      cl25751
      Location:943 → 1376
      DUF4045; Domain of unknown function (DUF4045)
      cl26464
      Location:1227 → 1757
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      30699807..30717281 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419589.1 → XP_047275545.1  mediator of DNA damage checkpoint protein 1 isoform X11

    2. XM_047419588.1 → XP_047275544.1  mediator of DNA damage checkpoint protein 1 isoform X10

    3. XM_047419586.1 → XP_047275542.1  mediator of DNA damage checkpoint protein 1 isoform X7

    4. XM_005249494.6 → XP_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
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBB2, A0A1U9XBC1
      Conserved Domains (5) summary
      pfam00498
      Location:55 → 110
      FHA; FHA domain
      cl00038
      Location:1882 → 1968
      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:822 → 962
      SMC_N; RecF/RecN/SMC N terminal domain
      cl25751
      Location:943 → 1376
      DUF4045; Domain of unknown function (DUF4045)
      cl26464
      Location:1227 → 1757
      Atrophin-1; Atrophin-1 family

    5. XM_047419582.1 → XP_047275538.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    6. XM_047419584.1 → XP_047275540.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    7. XM_017011522.3 → XP_016867011.1  mediator of DNA damage checkpoint protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DYH4

    8. XM_047419585.1 → XP_047275541.1  mediator of DNA damage checkpoint protein 1 isoform X6

    9. XM_047419581.1 → XP_047275537.1  mediator of DNA damage checkpoint protein 1 isoform X2

    10. XM_047419587.1 → XP_047275543.1  mediator of DNA damage checkpoint protein 1 isoform X8

    11. XM_047419580.1 → XP_047275536.1  mediator of DNA damage checkpoint protein 1 isoform X1

    12. XM_047419583.1 → XP_047275539.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    13. XM_011515003.4 → XP_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
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBB2, A0A1U9XBC1
      Conserved Domains (5) summary
      pfam00498
      Location:55 → 110
      FHA; FHA domain
      cl00038
      Location:1882 → 1968
      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:822 → 962
      SMC_N; RecF/RecN/SMC N terminal domain
      cl25751
      Location:943 → 1376
      DUF4045; Domain of unknown function (DUF4045)
      cl26464
      Location:1227 → 1757
      Atrophin-1; Atrophin-1 family

    14. XM_005249498.5 → XP_005249555.1  mediator of DNA damage checkpoint protein 1 isoform X8

      See identical proteins and their annotated locations for XP_005249555.1

      UniProtKB/TrEMBL
      B4DYH4
      Conserved Domains (2) summary
      cd00027
      Location:1663 → 1715
      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:76 → 144
      FHA; FHA domain

    15. XM_005249497.5 → XP_005249554.1  mediator of DNA damage checkpoint protein 1 isoform X5

      See identical proteins and their annotated locations for XP_005249554.1

      UniProtKB/TrEMBL
      A0A1U9XBB2
      Conserved Domains (2) summary
      cd00027
      Location:1737 → 1789
      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:76 → 144
      FHA; FHA domain

    16. XM_005249492.3 → XP_005249549.1  mediator of DNA damage checkpoint protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005249549.1

      UniProtKB/TrEMBL
      A0A1U9XBB2
      Conserved Domains (6) summary
      PTZ00449
      Location:964 → 1397
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      PHA03247
      Location:1248 → 1778
      PHA03247; large tegument protein UL36; Provisional
      cd00060
      Location:54 → 144
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      TIGR02169
      Location:843 → 983
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      cd17744
      Location:1914 → 1984
      BRCT_MDC1_rpt1; first BRCT domain of mediator of DNA damage checkpoint protein 1 (MDC1) and similar proteins
      cd18441
      Location:2016 → 2096
      BRCT_MDC1_rpt2; second BRCT domain of mediator of DNA damage checkpoint protein 1 (MDC1) and similar proteins

    17. XM_011515004.4 → XP_011513306.1  mediator of DNA damage checkpoint protein 1 isoform X4

      See identical proteins and their annotated locations for XP_011513306.1

      UniProtKB/TrEMBL
      A0A1U9XBB2
      Conserved Domains (1) summary
      cd00027
      Location:1778 → 1830
      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 ...

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      2029312..2047039 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328530.1 → XP_054184505.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    2. XM_054328540.1 → XP_054184515.1  mediator of DNA damage checkpoint protein 1 isoform X11

    3. XM_054328539.1 → XP_054184514.1  mediator of DNA damage checkpoint protein 1 isoform X10

    4. XM_054328531.1 → XP_054184506.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    5. XM_054328533.1 → XP_054184508.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    6. XM_054328538.1 → XP_054184513.1  mediator of DNA damage checkpoint protein 1 isoform X9

    7. XM_054328536.1 → XP_054184511.1  mediator of DNA damage checkpoint protein 1 isoform X6

    8. XM_054328529.1 → XP_054184504.1  mediator of DNA damage checkpoint protein 1 isoform X2

    9. XM_054328537.1 → XP_054184512.1  mediator of DNA damage checkpoint protein 1 isoform X8

    10. XM_054328535.1 → XP_054184510.1  mediator of DNA damage checkpoint protein 1 isoform X5

    11. XM_054328527.1 → XP_054184502.1  mediator of DNA damage checkpoint protein 1 isoform X1

    12. XM_054328532.1 → XP_054184507.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    13. XM_054328528.1 → XP_054184503.1  mediator of DNA damage checkpoint protein 1 isoform X1

    14. XM_054328534.1 → XP_054184509.1  mediator of DNA damage checkpoint protein 1 isoform X4

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2179547..2198636 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329934.1 → XP_054185909.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    2. XM_054329941.1 → XP_054185916.1  mediator of DNA damage checkpoint protein 1 isoform X7

    3. XM_054329946.1 → XP_054185921.1  mediator of DNA damage checkpoint protein 1 isoform X11

    4. XM_054329945.1 → XP_054185920.1  mediator of DNA damage checkpoint protein 1 isoform X10

    5. XM_054329935.1 → XP_054185910.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    6. XM_054329937.1 → XP_054185912.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    7. XM_054329944.1 → XP_054185919.1  mediator of DNA damage checkpoint protein 1 isoform X9

    8. XM_054329940.1 → XP_054185915.1  mediator of DNA damage checkpoint protein 1 isoform X6

    9. XM_054329933.1 → XP_054185908.1  mediator of DNA damage checkpoint protein 1 isoform X2

    10. XM_054329942.1 → XP_054185917.1  mediator of DNA damage checkpoint protein 1 isoform X8

    11. XM_054329939.1 → XP_054185914.1  mediator of DNA damage checkpoint protein 1 isoform X5

    12. XM_054329931.1 → XP_054185906.1  mediator of DNA damage checkpoint protein 1 isoform X1

    13. XM_054329943.1 → XP_054185918.1  mediator of DNA damage checkpoint protein 1 isoform X8

    14. XM_054329936.1 → XP_054185911.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    15. XM_054329932.1 → XP_054185907.1  mediator of DNA damage checkpoint protein 1 isoform X1

    16. XM_054329938.1 → XP_054185913.1  mediator of DNA damage checkpoint protein 1 isoform X4

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1955659..1974752 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330428.1 → XP_054186403.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    2. XM_054330439.1 → XP_054186414.1  mediator of DNA damage checkpoint protein 1 isoform X11

    3. XM_054330438.1 → XP_054186413.1  mediator of DNA damage checkpoint protein 1 isoform X10

    4. XM_054330429.1 → XP_054186404.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    5. XM_054330431.1 → XP_054186406.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    6. XM_054330437.1 → XP_054186412.1  mediator of DNA damage checkpoint protein 1 isoform X9

    7. XM_054330434.1 → XP_054186409.1  mediator of DNA damage checkpoint protein 1 isoform X6

    8. XM_054330426.1 → XP_054186401.1  mediator of DNA damage checkpoint protein 1 isoform X2

    9. XM_054330435.1 → XP_054186410.1  mediator of DNA damage checkpoint protein 1 isoform X8

    10. XM_054330433.1 → XP_054186408.1  mediator of DNA damage checkpoint protein 1 isoform X5

    11. XM_054330424.1 → XP_054186399.1  mediator of DNA damage checkpoint protein 1 isoform X1

    12. XM_054330427.1 → XP_054186402.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    13. XM_054330430.1 → XP_054186405.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    14. XM_054330425.1 → XP_054186400.1  mediator of DNA damage checkpoint protein 1 isoform X1

    15. XM_054330436.1 → XP_054186411.1  mediator of DNA damage checkpoint protein 1 isoform X8

    16. XM_054330432.1 → XP_054186407.1  mediator of DNA damage checkpoint protein 1 isoform X4

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      2010059..2030465 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330696.1 → XP_054186671.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    2. XM_054330702.1 → XP_054186677.1  mediator of DNA damage checkpoint protein 1 isoform X7

    3. XM_054330704.1 → XP_054186679.1  mediator of DNA damage checkpoint protein 1 isoform X11

    4. XM_054330703.1 → XP_054186678.1  mediator of DNA damage checkpoint protein 1 isoform X10

    5. XM_054330697.1 → XP_054186672.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    6. XM_054330699.1 → XP_054186674.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    7. XM_054330698.1 → XP_054186673.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    8. XM_054330701.1 → XP_054186676.1  mediator of DNA damage checkpoint protein 1 isoform X13

    9. XM_054330695.1 → XP_054186670.1  mediator of DNA damage checkpoint protein 1 isoform X12

    10. XM_054330700.1 → XP_054186675.1  mediator of DNA damage checkpoint protein 1 isoform X4

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      2043883..2064289 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330922.1 → XP_054186897.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    2. XM_054330928.1 → XP_054186903.1  mediator of DNA damage checkpoint protein 1 isoform X7

    3. XM_054330933.1 → XP_054186908.1  mediator of DNA damage checkpoint protein 1 isoform X11

    4. XM_054330932.1 → XP_054186907.1  mediator of DNA damage checkpoint protein 1 isoform X10

    5. XM_054330921.1 → XP_054186896.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    6. XM_054330924.1 → XP_054186899.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    7. XM_054330931.1 → XP_054186906.1  mediator of DNA damage checkpoint protein 1 isoform X9

    8. XM_054330927.1 → XP_054186902.1  mediator of DNA damage checkpoint protein 1 isoform X6

    9. XM_054330919.1 → XP_054186894.1  mediator of DNA damage checkpoint protein 1 isoform X2

    10. XM_054330929.1 → XP_054186904.1  mediator of DNA damage checkpoint protein 1 isoform X8

    11. XM_054330926.1 → XP_054186901.1  mediator of DNA damage checkpoint protein 1 isoform X5

    12. XM_054330917.1 → XP_054186892.1  mediator of DNA damage checkpoint protein 1 isoform X1

    13. XM_054330930.1 → XP_054186905.1  mediator of DNA damage checkpoint protein 1 isoform X8

    14. XM_054330920.1 → XP_054186895.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    15. XM_054330923.1 → XP_054186898.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    16. XM_054330918.1 → XP_054186893.1  mediator of DNA damage checkpoint protein 1 isoform X1

    17. XM_054330925.1 → XP_054186900.1  mediator of DNA damage checkpoint protein 1 isoform X4

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      1954920..1972647 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331201.1 → XP_054187176.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBE3

    2. XM_054331208.1 → XP_054187183.1  mediator of DNA damage checkpoint protein 1 isoform X7

    3. XM_054331212.1 → XP_054187187.1  mediator of DNA damage checkpoint protein 1 isoform X11

    4. XM_054331211.1 → XP_054187186.1  mediator of DNA damage checkpoint protein 1 isoform X10

    5. XM_054331202.1 → XP_054187177.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBE3

    6. XM_054331204.1 → XP_054187179.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBE3

    7. XM_054331210.1 → XP_054187185.1  mediator of DNA damage checkpoint protein 1 isoform X9

    8. XM_054331209.1 → XP_054187184.1  mediator of DNA damage checkpoint protein 1 isoform X8

    9. XM_054331198.1 → XP_054187173.1  mediator of DNA damage checkpoint protein 1 isoform X1

    10. XM_054331203.1 → XP_054187178.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBE3

    11. XM_054331200.1 → XP_054187175.1  mediator of DNA damage checkpoint protein 1 isoform X2

    12. XM_054331199.1 → XP_054187174.1  mediator of DNA damage checkpoint protein 1 isoform X1

    13. XM_054331207.1 → XP_054187182.1  mediator of DNA damage checkpoint protein 1 isoform X6

    14. XM_054331206.1 → XP_054187181.1  mediator of DNA damage checkpoint protein 1 isoform X5

    15. XM_054331205.1 → XP_054187180.1  mediator of DNA damage checkpoint protein 1 isoform X4

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      2000593..2019687 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331438.1 → XP_054187413.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBF2

    2. XM_054331439.1 → XP_054187414.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBF2

    3. XM_054331447.1 → XP_054187422.1  mediator of DNA damage checkpoint protein 1 isoform X9

    4. XM_054331444.1 → XP_054187419.1  mediator of DNA damage checkpoint protein 1 isoform X6

    5. XM_054331437.1 → XP_054187412.1  mediator of DNA damage checkpoint protein 1 isoform X2

    6. XM_054331445.1 → XP_054187420.1  mediator of DNA damage checkpoint protein 1 isoform X8

    7. XM_054331443.1 → XP_054187418.1  mediator of DNA damage checkpoint protein 1 isoform X5

    8. XM_054331436.1 → XP_054187411.1  mediator of DNA damage checkpoint protein 1 isoform X1

    9. XM_054331440.1 → XP_054187415.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBF2

    10. XM_054331446.1 → XP_054187421.1  mediator of DNA damage checkpoint protein 1 isoform X8

    11. XM_054331441.1 → XP_054187416.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBF2

    12. XM_054331442.1 → XP_054187417.1  mediator of DNA damage checkpoint protein 1 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      30564011..30584416 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356869.1 → XP_054212844.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    2. XM_054356875.1 → XP_054212850.1  mediator of DNA damage checkpoint protein 1 isoform X7

    3. XM_054356880.1 → XP_054212855.1  mediator of DNA damage checkpoint protein 1 isoform X11

    4. XM_054356879.1 → XP_054212854.1  mediator of DNA damage checkpoint protein 1 isoform X10

    5. XM_054356868.1 → XP_054212843.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    6. XM_054356871.1 → XP_054212846.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    7. XM_054356878.1 → XP_054212853.1  mediator of DNA damage checkpoint protein 1 isoform X9

    8. XM_054356874.1 → XP_054212849.1  mediator of DNA damage checkpoint protein 1 isoform X6

    9. XM_054356867.1 → XP_054212842.1  mediator of DNA damage checkpoint protein 1 isoform X2

    10. XM_054356876.1 → XP_054212851.1  mediator of DNA damage checkpoint protein 1 isoform X8

    11. XM_054356873.1 → XP_054212848.1  mediator of DNA damage checkpoint protein 1 isoform X5

    12. XM_054356865.1 → XP_054212840.1  mediator of DNA damage checkpoint protein 1 isoform X1

    13. XM_054356877.1 → XP_054212852.1  mediator of DNA damage checkpoint protein 1 isoform X8

    14. XM_054356870.1 → XP_054212845.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AB04, A2BF04, A2RRA8, A7YY86, B0S8A2, Q0EFC2, Q14676, Q2L6H7, Q2TAZ4, Q5JP55, Q5JP56, Q5ST83, Q68CQ3, Q86Z06, Q96QC2
      UniProtKB/TrEMBL
      A0A1U9XBC1

    15. XM_054356866.1 → XP_054212841.1  mediator of DNA damage checkpoint protein 1 isoform X1

    16. XM_054356872.1 → XP_054212847.1  mediator of DNA damage checkpoint protein 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14676.3 GenPept UniProtKB/Swiss-Prot:Q14676

    Gene LinkOut

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