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    SWI5 SWI5 homologous recombination repair protein [ Homo sapiens (human) ]

    Gene ID: 375757, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SWI5provided by HGNC
    Official Full Name
    SWI5 homologous recombination repair proteinprovided by HGNC
    Primary source
    HGNC:HGNC:31412
    See related
    Ensembl:ENSG00000175854 MIM:616528; AllianceGenome:HGNC:31412
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SAE3; C9orf119
    Summary
    Involved in cellular response to ionizing radiation and double-strand break repair via homologous recombination. Part of Swi5-Sfr1 complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 16.4), thyroid (RPKM 8.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SWI5 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128275356..128288989)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140482470..140496104)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131037635..131051268)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene dynamin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20333 Neighboring gene microRNA 199b Neighboring gene microRNA 3154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131017330-131017834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131017835-131018337 Neighboring gene golgin A2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:131061384-131061884 Neighboring gene Sharpr-MPRA regulatory region 12606 Neighboring gene Sharpr-MPRA regulatory region 14380 Neighboring gene uncharacterized LOC105376286 Neighboring gene TruB pseudouridine synthase family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131095861-131096360 Neighboring gene coenzyme Q4

    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. Downregulation of SWI5 and CTC1 genes: hepatitis B virus DNA polymerase transactivated protein 1-mediated inhibition of DNA repair. Yao XK, et al. Acta Virol, 2016 Jun. PMID 27265469
    2. The role of the human SWI5-MEI5 complex in homologous recombination repair. Yuan J, et al. J Biol Chem, 2011 Mar 18. PMID 21252223, Free PMC Article
    3. Role for the mammalian Swi5-Sfr1 complex in DNA strand break repair through homologous recombination. Akamatsu Y, et al. PLoS Genet, 2010 Oct 14. PMID 20976249, Free PMC Article
    4. FIGNL1-containing protein complex is required for efficient homologous recombination repair. Yuan J, et al. Proc Natl Acad Sci U S A, 2013 Jun 25. PMID 23754376, Free PMC Article
    5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HBV DNAPTP1 downregulated the expression of SWI5 and CTC1 at translation level.
      Title: Downregulation of SWI5 and CTC1 genes: hepatitis B virus DNA polymerase transactivated protein 1-mediated inhibition of DNA repair.
    2. that human SWI5-MEI5 has an evolutionarily conserved function in homologous recombination repair.
      Title: The role of the human SWI5-MEI5 complex in homologous recombination repair.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Swi5-Sfr1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Swi5-Sfr1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    DNA repair protein SWI5 homolog
    Names
    HBV DNAPTP1-transactivated protein A
    SWI5 recombination repair homolog
    protein SAE3 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_001040011.2 → NP_001035100.2  DNA repair protein SWI5 homolog isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL590708, DQ414820
      Consensus CDS
      CCDS43883.2
      UniProtKB/TrEMBL
      V9GYD7, V9GZ11
      Related
      ENSP00000476650.2, ENST00000608796.6
      Conserved Domains (1) summary
      pfam07061
      Location:94 → 169
      Swi5

    2. NM_001318089.2 → NP_001305018.2  DNA repair protein SWI5 homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AL590708, BG541668
      Consensus CDS
      CCDS94496.1
      UniProtKB/TrEMBL
      A0A494C0Z4, H7C3F2
      Related
      ENSP00000411469.3, ENST00000418976.3
      Conserved Domains (1) summary
      pfam07061
      Location:54 → 129
      Swi5

    3. NM_001318092.2 → NP_001305021.1  DNA repair protein SWI5 homolog isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, lacks a portion of the 5' coding region and initiates translation at an alternate start site, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL590708, BC029911, CF129530
      Consensus CDS
      CCDS83422.1
      UniProtKB/TrEMBL
      H3BLW9, H7C5E9
      Related
      ENSP00000419719.2, ENST00000495313.5
      Conserved Domains (1) summary
      pfam07061
      Location:66 → 137
      Swi5; Swi5

    4. NM_001379267.1 → NP_001366196.1  DNA repair protein SWI5 homolog isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL590708
      Conserved Domains (1) summary
      pfam07061
      Location:103 → 178
      Swi5

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      128275356..128288989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      140482470..140496104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q1ZZU3.1 GenPept UniProtKB/Swiss-Prot:Q1ZZU3

    Gene LinkOut

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

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