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    Shld1 shieldin complex subunit 1 [ Mus musculus (house mouse) ]

    Gene ID: 73747, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Shld1provided by MGI
    Official Full Name
    shieldin complex subunit 1provided by MGI
    Primary source
    MGI:MGI:1920997
    See related
    Ensembl:ENSMUSG00000044991 AllianceGenome:MGI:1920997
    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
    1110034G24Rik
    Summary
    Predicted to be involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Predicted to act upstream of or within DNA repair. Predicted to be located in chromosome. Predicted to be active in site of double-strand break. Orthologous to human SHLD1 (shieldin complex subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart adult (RPKM 2.8), CNS E14 (RPKM 2.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Shld1 in Genome Data Viewer
    Location:
    2 F2; 2 64.74 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (132528871..132592975)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (132686931..132751055)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene ubiquitin-conjugating enzyme E2S pseudogene Neighboring gene STARR-seq mESC enhancer starr_05750 Neighboring gene high mobility group box 2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_05751 Neighboring gene predicted gene, 38455 Neighboring gene armadillo repeat containing 1 pseudogene Neighboring gene predicted gene, 52525 Neighboring gene predicted gene, 22245 Neighboring gene chromogranin B Neighboring gene STARR-positive B cell enhancer ABC_E4502 Neighboring gene tRNA methyltransferase 6 Neighboring gene minichromosome maintenance 8 homologous recombination repair factor

    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. The dystonia gene THAP1 controls DNA double-strand break repair choice. Shinoda K, et al. Mol Cell, 2021 Jun 17. PMID 33857404, Free PMC Article
    2. SHLD1 is dispensable for 53BP1-dependent V(D)J recombination but critical for productive class switch recombination. Vincendeau E, et al. Nat Commun, 2022 Jun 28. PMID 35764636, Free PMC Article
    3. 53BP1-shieldin-dependent DSB processing in BRCA1-deficient cells requires CST-Polα-primase fill-in synthesis. Mirman Z, et al. Nat Cell Biol, 2022 Jan. PMID 35027730, Free PMC Article
    4. DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity. Gupta R, et al. Cell, 2018 May 3. PMID 29656893, Free PMC Article
    5. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The dystonia gene THAP1 controls DNA double-strand break repair choice.
      Title: The dystonia gene THAP1 controls DNA double-strand break repair choice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC118301

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    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
    		  
    involved_in negative regulation of double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of double-strand break repair via nonhomologous end joining IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of double-strand break repair via nonhomologous end joining ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of double-strand break repair via nonhomologous end joining NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of isotype switching IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of isotype switching ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of double-strand break repair via nonhomologous end joining IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in somatic diversification of immunoglobulins involved in immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in telomere maintenance in response to DNA damage NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of chromatin NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in chromosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in site of double-strand break IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in site of double-strand break ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in site of double-strand break NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    shieldin complex subunit 1
    Names
    RINN1-REV7-interacting novel NHEJ regulator 3
    uncharacterized protein C20orf196 homolog

    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_001358260.2 → NP_001345189.1  shieldin complex subunit 1

      Status: VALIDATED

      Source sequence(s)
      AL935270
      Consensus CDS
      CCDS50727.1
      UniProtKB/Swiss-Prot
      A2AW53, Q9D112
      UniProtKB/TrEMBL
      B2RR16
      Related
      ENSMUSP00000057009.5, ENSMUST00000061891.11
      Conserved Domains (1) summary
      pfam15021
      Location:4 → 201
      DUF4521; Protein of unknown function (DUF4521)

    2. NM_001358261.2 → NP_001345190.1  shieldin complex subunit 1

      Status: VALIDATED

      Source sequence(s)
      AL935270
      Consensus CDS
      CCDS50727.1
      UniProtKB/Swiss-Prot
      A2AW53, Q9D112
      UniProtKB/TrEMBL
      B2RR16
      Conserved Domains (1) summary
      pfam15021
      Location:4 → 201
      DUF4521; Protein of unknown function (DUF4521)

    3. NM_028637.3 → NP_082913.1  shieldin complex subunit 1

      See identical proteins and their annotated locations for NP_082913.1

      Status: VALIDATED

      Source sequence(s)
      AL935270
      Consensus CDS
      CCDS50727.1
      UniProtKB/Swiss-Prot
      A2AW53, Q9D112
      UniProtKB/TrEMBL
      B2RR16
      Related
      ENSMUSP00000105759.3, ENSMUST00000110132.3
      Conserved Domains (1) summary
      pfam15021
      Location:4 → 201
      DUF4521; Protein of unknown function (DUF4521)

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      132528871..132592975
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011239800.2 → XP_011238102.1  shieldin complex subunit 1 isoform X3

      See identical proteins and their annotated locations for XP_011238102.1

      UniProtKB/Swiss-Prot
      A2AW53, Q9D112
      UniProtKB/TrEMBL
      B2RR16
      Conserved Domains (1) summary
      pfam15021
      Location:4 → 201
      DUF4521; Protein of unknown function (DUF4521)

    2. XM_036162619.1 → XP_036018512.1  shieldin complex subunit 1 isoform X1

      Conserved Domains (1) summary
      pfam15021
      Location:62 → 259
      DUF4521; Protein of unknown function (DUF4521)

    3. XM_036162621.1 → XP_036018514.1  shieldin complex subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AW53, Q9D112
      UniProtKB/TrEMBL
      B2RR16
      Conserved Domains (1) summary
      pfam15021
      Location:4 → 201
      DUF4521; Protein of unknown function (DUF4521)

    4. XM_011239799.1 → XP_011238101.1  shieldin complex subunit 1 isoform X2

      Conserved Domains (1) summary
      pfam15021
      Location:6 → 203
      DUF4521; Protein of unknown function (DUF4521)

    5. XM_011239802.3 → XP_011238104.1  shieldin complex subunit 1 isoform X3

      See identical proteins and their annotated locations for XP_011238104.1

      UniProtKB/Swiss-Prot
      A2AW53, Q9D112
      UniProtKB/TrEMBL
      B2RR16
      Conserved Domains (1) summary
      pfam15021
      Location:4 → 201
      DUF4521; Protein of unknown function (DUF4521)

    6. XM_036162622.1 → XP_036018515.1  shieldin complex subunit 1 isoform X4

      Conserved Domains (1) summary
      pfam15021
      Location:9 → 150
      DUF4521; Protein of unknown function (DUF4521)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D112.1 GenPept UniProtKB/Swiss-Prot:Q9D112

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