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

    Gene ID: 9656, updated on 9-Dec-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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
      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: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: 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_047419589.1XP_047275545.1  mediator of DNA damage checkpoint protein 1 isoform X11

      UniProtKB/TrEMBL
      B4DYH4
    2. XM_047419588.1XP_047275544.1  mediator of DNA damage checkpoint protein 1 isoform X10

      UniProtKB/TrEMBL
      B4DYH4
    3. XM_047419586.1XP_047275542.1  mediator of DNA damage checkpoint protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A1U9XBB2
    4. XM_005249494.6XP_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: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_047419582.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    6. XM_047419584.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    7. XM_017011522.3XP_016867011.1  mediator of DNA damage checkpoint protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DYH4
    8. XM_047419585.1XP_047275541.1  mediator of DNA damage checkpoint protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A1U9XBB2
    9. XM_047419581.1XP_047275537.1  mediator of DNA damage checkpoint protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A1U9XBB2
    10. XM_047419587.1XP_047275543.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    11. XM_047419580.1XP_047275536.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    12. XM_047419583.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    13. XM_011515003.4XP_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: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
    14. XM_005249498.5XP_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: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
    15. XM_005249497.5XP_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: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
    16. XM_005249492.3XP_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:9641397
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      PHA03247
      Location:12481778
      PHA03247; large tegument protein UL36; Provisional
      cd00060
      Location:54144
      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:843983
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      cd17744
      Location:19141984
      BRCT_MDC1_rpt1; first BRCT domain of mediator of DNA damage checkpoint protein 1 (MDC1) and similar proteins
      cd18441
      Location:20162096
      BRCT_MDC1_rpt2; second BRCT domain of mediator of DNA damage checkpoint protein 1 (MDC1) and similar proteins
    17. XM_011515004.4XP_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: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 ...

    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_054328530.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    2. XM_054328540.1XP_054184515.1  mediator of DNA damage checkpoint protein 1 isoform X11

      UniProtKB/TrEMBL
      B4DYH4
    3. XM_054328539.1XP_054184514.1  mediator of DNA damage checkpoint protein 1 isoform X10

      UniProtKB/TrEMBL
      B4DYH4
    4. XM_054328531.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    5. XM_054328533.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    6. XM_054328538.1XP_054184513.1  mediator of DNA damage checkpoint protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DYH4
    7. XM_054328536.1XP_054184511.1  mediator of DNA damage checkpoint protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A1U9XBB2
    8. XM_054328529.1XP_054184504.1  mediator of DNA damage checkpoint protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A1U9XBB2
    9. XM_054328537.1XP_054184512.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    10. XM_054328535.1XP_054184510.1  mediator of DNA damage checkpoint protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A1U9XBB2
    11. XM_054328527.1XP_054184502.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    12. XM_054328532.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    13. XM_054328528.1XP_054184503.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    14. XM_054328534.1XP_054184509.1  mediator of DNA damage checkpoint protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A1U9XBB2

    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_054329934.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    2. XM_054329941.1XP_054185916.1  mediator of DNA damage checkpoint protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A1U9XBB2
    3. XM_054329946.1XP_054185921.1  mediator of DNA damage checkpoint protein 1 isoform X11

      UniProtKB/TrEMBL
      B4DYH4
    4. XM_054329945.1XP_054185920.1  mediator of DNA damage checkpoint protein 1 isoform X10

      UniProtKB/TrEMBL
      B4DYH4
    5. XM_054329935.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    6. XM_054329937.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    7. XM_054329944.1XP_054185919.1  mediator of DNA damage checkpoint protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DYH4
    8. XM_054329940.1XP_054185915.1  mediator of DNA damage checkpoint protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A1U9XBB2
    9. XM_054329933.1XP_054185908.1  mediator of DNA damage checkpoint protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A1U9XBB2
    10. XM_054329942.1XP_054185917.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    11. XM_054329939.1XP_054185914.1  mediator of DNA damage checkpoint protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A1U9XBB2
    12. XM_054329931.1XP_054185906.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    13. XM_054329943.1XP_054185918.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    14. XM_054329936.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    15. XM_054329932.1XP_054185907.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    16. XM_054329938.1XP_054185913.1  mediator of DNA damage checkpoint protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A1U9XBB2

    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_054330428.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    2. XM_054330439.1XP_054186414.1  mediator of DNA damage checkpoint protein 1 isoform X11

      UniProtKB/TrEMBL
      B4DYH4
    3. XM_054330438.1XP_054186413.1  mediator of DNA damage checkpoint protein 1 isoform X10

      UniProtKB/TrEMBL
      B4DYH4
    4. XM_054330429.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    5. XM_054330431.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    6. XM_054330437.1XP_054186412.1  mediator of DNA damage checkpoint protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DYH4
    7. XM_054330434.1XP_054186409.1  mediator of DNA damage checkpoint protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A1U9XBB2
    8. XM_054330426.1XP_054186401.1  mediator of DNA damage checkpoint protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A1U9XBB2
    9. XM_054330435.1XP_054186410.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    10. XM_054330433.1XP_054186408.1  mediator of DNA damage checkpoint protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A1U9XBB2
    11. XM_054330424.1XP_054186399.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    12. XM_054330427.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    13. XM_054330430.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    14. XM_054330425.1XP_054186400.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    15. XM_054330436.1XP_054186411.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    16. XM_054330432.1XP_054186407.1  mediator of DNA damage checkpoint protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A1U9XBB2

    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_054330696.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    2. XM_054330702.1XP_054186677.1  mediator of DNA damage checkpoint protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A1U9XBB2
    3. XM_054330704.1XP_054186679.1  mediator of DNA damage checkpoint protein 1 isoform X11

      UniProtKB/TrEMBL
      B4DYH4
    4. XM_054330703.1XP_054186678.1  mediator of DNA damage checkpoint protein 1 isoform X10

      UniProtKB/TrEMBL
      B4DYH4
    5. XM_054330697.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    6. XM_054330699.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    7. XM_054330698.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    8. XM_054330701.1XP_054186676.1  mediator of DNA damage checkpoint protein 1 isoform X13

      UniProtKB/TrEMBL
      A0A1U9XBB2
    9. XM_054330695.1XP_054186670.1  mediator of DNA damage checkpoint protein 1 isoform X12

      UniProtKB/TrEMBL
      A0A1U9XBB2
    10. XM_054330700.1XP_054186675.1  mediator of DNA damage checkpoint protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A1U9XBB2

    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_054330922.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    2. XM_054330928.1XP_054186903.1  mediator of DNA damage checkpoint protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A1U9XBB2
    3. XM_054330933.1XP_054186908.1  mediator of DNA damage checkpoint protein 1 isoform X11

      UniProtKB/TrEMBL
      B4DYH4
    4. XM_054330932.1XP_054186907.1  mediator of DNA damage checkpoint protein 1 isoform X10

      UniProtKB/TrEMBL
      B4DYH4
    5. XM_054330921.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    6. XM_054330924.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    7. XM_054330931.1XP_054186906.1  mediator of DNA damage checkpoint protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DYH4
    8. XM_054330927.1XP_054186902.1  mediator of DNA damage checkpoint protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A1U9XBB2
    9. XM_054330919.1XP_054186894.1  mediator of DNA damage checkpoint protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A1U9XBB2
    10. XM_054330929.1XP_054186904.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    11. XM_054330926.1XP_054186901.1  mediator of DNA damage checkpoint protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A1U9XBB2
    12. XM_054330917.1XP_054186892.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    13. XM_054330930.1XP_054186905.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    14. XM_054330920.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    15. XM_054330923.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    16. XM_054330918.1XP_054186893.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    17. XM_054330925.1XP_054186900.1  mediator of DNA damage checkpoint protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A1U9XBB2

    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_054331201.1XP_054187176.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBB2, A0A1U9XBE3
    2. XM_054331208.1XP_054187183.1  mediator of DNA damage checkpoint protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A1U9XBB2
    3. XM_054331212.1XP_054187187.1  mediator of DNA damage checkpoint protein 1 isoform X11

      UniProtKB/TrEMBL
      B4DYH4
    4. XM_054331211.1XP_054187186.1  mediator of DNA damage checkpoint protein 1 isoform X10

      UniProtKB/TrEMBL
      B4DYH4
    5. XM_054331202.1XP_054187177.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBB2, A0A1U9XBE3
    6. XM_054331204.1XP_054187179.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBB2, A0A1U9XBE3
    7. XM_054331210.1XP_054187185.1  mediator of DNA damage checkpoint protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DYH4
    8. XM_054331209.1XP_054187184.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    9. XM_054331198.1XP_054187173.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    10. XM_054331203.1XP_054187178.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBB2, A0A1U9XBE3
    11. XM_054331200.1XP_054187175.1  mediator of DNA damage checkpoint protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A1U9XBB2
    12. XM_054331199.1XP_054187174.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    13. XM_054331207.1XP_054187182.1  mediator of DNA damage checkpoint protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A1U9XBB2
    14. XM_054331206.1XP_054187181.1  mediator of DNA damage checkpoint protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A1U9XBB2
    15. XM_054331205.1XP_054187180.1  mediator of DNA damage checkpoint protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A1U9XBB2

    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_054331438.1XP_054187413.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBB2, A0A1U9XBF2
    2. XM_054331439.1XP_054187414.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBB2, A0A1U9XBF2
    3. XM_054331447.1XP_054187422.1  mediator of DNA damage checkpoint protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DYH4
    4. XM_054331444.1XP_054187419.1  mediator of DNA damage checkpoint protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A1U9XBB2
    5. XM_054331437.1XP_054187412.1  mediator of DNA damage checkpoint protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A1U9XBB2
    6. XM_054331445.1XP_054187420.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    7. XM_054331443.1XP_054187418.1  mediator of DNA damage checkpoint protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A1U9XBB2
    8. XM_054331436.1XP_054187411.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    9. XM_054331440.1XP_054187415.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBB2, A0A1U9XBF2
    10. XM_054331446.1XP_054187421.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    11. XM_054331441.1XP_054187416.1  mediator of DNA damage checkpoint protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A1U9XBB2, A0A1U9XBF2
    12. XM_054331442.1XP_054187417.1  mediator of DNA damage checkpoint protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A1U9XBB2

    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_054356869.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    2. XM_054356875.1XP_054212850.1  mediator of DNA damage checkpoint protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A1U9XBB2
    3. XM_054356880.1XP_054212855.1  mediator of DNA damage checkpoint protein 1 isoform X11

      UniProtKB/TrEMBL
      B4DYH4
    4. XM_054356879.1XP_054212854.1  mediator of DNA damage checkpoint protein 1 isoform X10

      UniProtKB/TrEMBL
      B4DYH4
    5. XM_054356868.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    6. XM_054356871.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    7. XM_054356878.1XP_054212853.1  mediator of DNA damage checkpoint protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DYH4
    8. XM_054356874.1XP_054212849.1  mediator of DNA damage checkpoint protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A1U9XBB2
    9. XM_054356867.1XP_054212842.1  mediator of DNA damage checkpoint protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A1U9XBB2
    10. XM_054356876.1XP_054212851.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    11. XM_054356873.1XP_054212848.1  mediator of DNA damage checkpoint protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A1U9XBB2
    12. XM_054356865.1XP_054212840.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    13. XM_054356877.1XP_054212852.1  mediator of DNA damage checkpoint protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DYH4
    14. XM_054356870.1XP_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
      A0A1U9XBB2, A0A1U9XBC1
    15. XM_054356866.1XP_054212841.1  mediator of DNA damage checkpoint protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9XBB2
    16. XM_054356872.1XP_054212847.1  mediator of DNA damage checkpoint protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A1U9XBB2