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

Gene ID: 375757, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in testis (RPKM 16.4), thyroid (RPKM 8.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
9q34.11
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128275356..128288989)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140482470..140496104)
105.20220307 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)

Genotypes

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 
part_of Swi5-Swi2 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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

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