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

Gene ID: 375757, updated on 26-Oct-2022

Summary

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

See SWI5 in Genome Data Viewer
Location:
9q34.11
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128275356..128288989)
110 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 microRNA 199b Neighboring gene microRNA 3154 Neighboring gene golgin A2 Neighboring gene Sharpr-MPRA regulatory region 12606 Neighboring gene Sharpr-MPRA regulatory region 14380 Neighboring gene TruB pseudouridine synthase family member 2

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of Swi5-Sfr1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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_001040011.2NP_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
    Related
    ENSP00000476650.2, ENST00000608796.6
    Conserved Domains (1) summary
    pfam07061
    Location:94169
    Swi5
  2. NM_001318089.2NP_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
    H7C3F2
    Related
    ENSP00000411469.3, ENST00000418976.3
    Conserved Domains (1) summary
    pfam07061
    Location:54129
    Swi5
  3. NM_001318092.2NP_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/Swiss-Prot
    Q1ZZU3
    UniProtKB/TrEMBL
    H7C5E9
    Related
    ENSP00000419719.2, ENST00000495313.5
    Conserved Domains (1) summary
    pfam07061
    Location:66137
    Swi5; Swi5
  4. NM_001379267.1NP_001366196.1  DNA repair protein SWI5 homolog isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL590708
    Conserved Domains (1) summary
    pfam07061
    Location:103178
    Swi5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)