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

Gene ID: 73747, updated on 2-Nov-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 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, Nov 2024]
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 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 (20) 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
involved_in 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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of isotype switching ISO
Inferred from Sequence Orthology
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
located_in 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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