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    Emsy EMSY, BRCA2-interacting transcriptional repressor [ Mus musculus (house mouse) ]

    Gene ID: 233545, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Emsyprovided by MGI
    Official Full Name
    EMSY, BRCA2-interacting transcriptional repressorprovided by MGI
    Primary source
    MGI:MGI:1924203
    See related
    Ensembl:ENSMUSG00000035401 AllianceGenome:MGI:1924203
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2210018M11Rik; 2310016L09Rik
    Summary
    Enables identical protein binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to act upstream of or within DNA repair and chromatin organization. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. Orthologous to human EMSY (EMSY transcriptional repressor, BRCA2 interacting). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 5.9), CNS E14 (RPKM 5.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    7 E1; 7 53.86 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (98236344..98308779, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (98587130..98656827, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 33394 Neighboring gene predicted gene, 23040 Neighboring gene STARR-positive B cell enhancer mm9_chr7:105682961-105683262 Neighboring gene STARR-seq mESC enhancer starr_19631 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:105711530-105711812 Neighboring gene STARR-positive B cell enhancer ABC_E10453 Neighboring gene STARR-positive B cell enhancer mm9_chr7:105737605-105737906 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:105805164-105805273 Neighboring gene STARR-positive B cell enhancer mm9_chr7:105842676-105842977 Neighboring gene predicted gene 15506 Neighboring gene STARR-positive B cell enhancer ABC_E2833 Neighboring gene predicted gene, 57488 Neighboring gene THAP domain containing 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. EMSY inhibits homologous recombination repair and the interferon response, promoting lung cancer immune evasion. Marzio A, et al. Cell, 2022 Jan 6. PMID 34963055, Free PMC Article
    2. The protein kinase Akt1 regulates the interferon response through phosphorylation of the transcriptional repressor EMSY. Ezell SA, et al. Proc Natl Acad Sci U S A, 2012 Mar 6. PMID 22315412, Free PMC Article
    3. EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Hughes-Davies L, et al. Cell, 2003 Nov 26. PMID 14651845
    4. Binding of EMSY to HP1beta: implications for recruitment of HP1beta and BS69. Ekblad CM, et al. EMBO Rep, 2005 Jul. PMID 15947784, Free PMC Article
    5. O-linked N-acetylglucosamine proteomics of postsynaptic density preparations using lectin weak affinity chromatography and mass spectrometry. Vosseller K, et al. Mol Cell Proteomics, 2006 May. PMID 16452088

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EMSY inhibits homologous recombination repair and the interferon response, promoting lung cancer immune evasion.
      Title: EMSY inhibits homologous recombination repair and the interferon response, promoting lung cancer immune evasion.
    2. Akt1 regulates the interferon response through phosphorylation of the transcriptional repressor EMSY
      Title: The protein kinase Akt1 regulates the interferon response through phosphorylation of the transcriptional repressor EMSY.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (2) 
    • Endonuclease-mediated (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC101920

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    BRCA2-interacting transcriptional repressor EMSY
    Names
    protein EMSY

    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_001381867.1 → NP_001368796.1  BRCA2-interacting transcriptional repressor EMSY isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC111124
      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      PRK10263
      Location:922 → 1098
      PRK10263; DNA translocase FtsK; Provisional
      pfam03735
      Location:19 → 85
      ENT; ENT domain

    2. NM_001381868.1 → NP_001368797.1  BRCA2-interacting transcriptional repressor EMSY isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC111124
      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      PRK10263
      Location:897 → 1073
      PRK10263; DNA translocase FtsK; Provisional
      pfam03735
      Location:19 → 59
      ENT; ENT domain

    3. NM_001381869.1 → NP_001368798.1  BRCA2-interacting transcriptional repressor EMSY isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC111124
      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      pfam03154
      Location:904 → 1106
      Atrophin-1; Atrophin-1 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    4. NM_001381870.1 → NP_001368799.1  BRCA2-interacting transcriptional repressor EMSY isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC111124
      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (1) summary
      pfam03735
      Location:19 → 85
      ENT; ENT domain

    5. NM_172280.2 → NP_758484.2  BRCA2-interacting transcriptional repressor EMSY isoform 4

      See identical proteins and their annotated locations for NP_758484.2

      Status: VALIDATED

      Source sequence(s)
      BC089304
      Consensus CDS
      CCDS40028.1
      UniProtKB/Swiss-Prot
      Q5FWK5, Q80XU1, Q8BMB0, Q8VDW9
      UniProtKB/TrEMBL
      A0A0U1RPK1
      Related
      ENSMUSP00000145858.2, ENSMUST00000205276.2
      Conserved Domains (1) summary
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      98236344..98308779 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036152990.1 → XP_036008883.1  BRCA2-interacting transcriptional repressor EMSY isoform X33

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (1) summary
      pfam03735
      Location:19 → 59
      ENT; ENT domain

    2. XM_036152991.1 → XP_036008884.1  BRCA2-interacting transcriptional repressor EMSY isoform X35

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (1) summary
      pfam03735
      Location:19 → 85
      ENT; ENT domain

    3. XM_017322180.3 → XP_017177669.1  BRCA2-interacting transcriptional repressor EMSY isoform X34

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:793 → 932
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    4. XM_036152989.1 → XP_036008882.1  BRCA2-interacting transcriptional repressor EMSY isoform X31

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (1) summary
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    5. XM_036152988.1 → XP_036008881.1  BRCA2-interacting transcriptional repressor EMSY isoform X28

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (1) summary
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    6. XM_006507630.5 → XP_006507693.1  BRCA2-interacting transcriptional repressor EMSY isoform X25

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Related
      ENSMUSP00000038216.6, ENSMUST00000038359.6
      Conserved Domains (2) summary
      TIGR01628
      Location:914 → 1053
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    7. XM_017322179.3 → XP_017177668.1  BRCA2-interacting transcriptional repressor EMSY isoform X32

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:844 → 983
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    8. XM_017322178.3 → XP_017177667.1  BRCA2-interacting transcriptional repressor EMSY isoform X30

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:896 → 1035
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    9. XM_030242484.2 → XP_030098344.1  BRCA2-interacting transcriptional repressor EMSY isoform X29

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:899 → 1038
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    10. XM_017322176.3 → XP_017177665.1  BRCA2-interacting transcriptional repressor EMSY isoform X23

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:951 → 1090
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    11. XM_006507629.5 → XP_006507692.1  BRCA2-interacting transcriptional repressor EMSY isoform X21

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:965 → 1104
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    12. XM_006507615.5 → XP_006507678.1  BRCA2-interacting transcriptional repressor EMSY isoform X1

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:965 → 1108
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    13. XM_011241736.4 → XP_011240038.1  BRCA2-interacting transcriptional repressor EMSY isoform X19

      Conserved Domains (1) summary
      TIGR01628
      Location:837 → 980
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

    14. XM_006507631.5 → XP_006507694.1  BRCA2-interacting transcriptional repressor EMSY isoform X26

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Related
      ENSMUSP00000146011.2, ENSMUST00000205911.2
      Conserved Domains (2) summary
      TIGR01628
      Location:754 → 897
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 59
      ENT; ENT domain

    15. XM_006507627.5 → XP_006507690.1  BRCA2-interacting transcriptional repressor EMSY isoform X14

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:875 → 1018
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 59
      ENT; ENT domain

    16. XM_006507620.5 → XP_006507683.1  BRCA2-interacting transcriptional repressor EMSY isoform X6

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:926 → 1069
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 59
      ENT; ENT domain

    17. XM_030242482.2 → XP_030098342.1  BRCA2-interacting transcriptional repressor EMSY isoform X15

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:850 → 993
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 83
      ENT; ENT domain

    18. XM_036152986.1 → XP_036008879.1  BRCA2-interacting transcriptional repressor EMSY isoform X24

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      PRK10263
      Location:815 → 991
      PRK10263; DNA translocase FtsK; Provisional
      pfam03735
      Location:19 → 85
      ENT; ENT domain

    19. XM_017322174.3 → XP_017177663.1  BRCA2-interacting transcriptional repressor EMSY isoform X20

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:831 → 974
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 83
      ENT; ENT domain

    20. XM_036152985.1 → XP_036008878.1  BRCA2-interacting transcriptional repressor EMSY isoform X17

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      PRK10263
      Location:881 → 1057
      PRK10263; DNA translocase FtsK; Provisional
      pfam03735
      Location:19 → 85
      ENT; ENT domain

    21. XM_006507624.5 → XP_006507687.1  BRCA2-interacting transcriptional repressor EMSY isoform X11

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:900 → 1043
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 83
      ENT; ENT domain

    22. XM_006507619.5 → XP_006507682.1  BRCA2-interacting transcriptional repressor EMSY isoform X5

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:950 → 1093
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 83
      ENT; ENT domain

    23. XM_006507618.5 → XP_006507681.1  BRCA2-interacting transcriptional repressor EMSY isoform X4

      See identical proteins and their annotated locations for XP_006507681.1

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:951 → 1094
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 83
      ENT; ENT domain

    24. XM_036152987.1 → XP_036008880.1  BRCA2-interacting transcriptional repressor EMSY isoform X27

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      pfam03154
      Location:733 → 935
      Atrophin-1; Atrophin-1 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    25. XM_017322175.3 → XP_017177664.1  BRCA2-interacting transcriptional repressor EMSY isoform X22

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:793 → 936
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    26. XM_030242483.2 → XP_030098343.1  BRCA2-interacting transcriptional repressor EMSY isoform X16

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:845 → 988
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    27. XM_006507622.5 → XP_006507685.1  BRCA2-interacting transcriptional repressor EMSY isoform X8

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:914 → 1057
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    28. XM_006507616.5 → XP_006507679.1  BRCA2-interacting transcriptional repressor EMSY isoform X2

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:964 → 1107
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    29. XM_036152984.1 → XP_036008877.1  BRCA2-interacting transcriptional repressor EMSY isoform X10

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      PRK10263
      Location:937 → 1113
      PRK10263; DNA translocase FtsK; Provisional
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    30. XM_006507621.5 → XP_006507684.1  BRCA2-interacting transcriptional repressor EMSY isoform X7

      Conserved Domains (2) summary
      TIGR01628
      Location:915 → 1058
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    31. XM_006507628.5 → XP_006507691.1  BRCA2-interacting transcriptional repressor EMSY isoform X18

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:844 → 987
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    32. XM_006507626.5 → XP_006507689.1  BRCA2-interacting transcriptional repressor EMSY isoform X13

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:896 → 1039
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    33. XM_006507623.5 → XP_006507686.1  BRCA2-interacting transcriptional repressor EMSY isoform X9

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:910 → 1053
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    34. XM_006507625.5 → XP_006507688.1  BRCA2-interacting transcriptional repressor EMSY isoform X12

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:899 → 1042
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    35. XM_006507617.5 → XP_006507680.1  BRCA2-interacting transcriptional repressor EMSY isoform X3

      UniProtKB/TrEMBL
      A0A0U1RPK1
      Conserved Domains (2) summary
      TIGR01628
      Location:951 → 1094
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam03735
      Location:19 → 81
      ENT; ENT domain

    RNA

    1. XR_004934080.1 RNA Sequence

    2. XR_004934082.1 RNA Sequence

    3. XR_004934081.1 RNA Sequence

    4. XR_001785533.3 RNA Sequence

    5. XR_003946459.2 RNA Sequence

    6. XR_001785534.3 RNA Sequence

    7. XR_001785532.3 RNA Sequence

    8. XR_378234.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BMB0.2 GenPept UniProtKB/Swiss-Prot:Q8BMB0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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