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SFR1 SWI5 dependent homologous recombination repair protein 1 [ Homo sapiens (human) ]

Gene ID: 119392, updated on 5-Mar-2024

Summary

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Official Symbol
SFR1provided by HGNC
Official Full Name
SWI5 dependent homologous recombination repair protein 1provided by HGNC
Primary source
HGNC:HGNC:29574
See related
Ensembl:ENSG00000156384 MIM:616527; AllianceGenome:HGNC:29574
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
MEI5; MEIR5; C10orf78; bA373N18.1
Summary
Enables nuclear receptor coactivator activity. Involved in cellular response to estrogen stimulus; double-strand break repair via homologous recombination; and positive regulation of transcription, DNA-templated. Located in nucleus. Part of Swi5-Sfr1 complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 6.8), appendix (RPKM 2.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
10q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (104120166..104126383)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (105008277..105014494)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105879924..105886141)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 524, pseudogene Neighboring gene STE20 like kinase Neighboring gene collagen type XVII alpha 1 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105812840-105813426 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:105813739-105814938 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105826696-105827351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105827352-105828006 Neighboring gene microRNA 936 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:105879992-105881191 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105881347-105882010 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:105906549-105907080 Neighboring gene cilia and flagella associated protein 43 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:105915186-105915853 Neighboring gene tropomyosin 3 pseudogene Neighboring gene microRNA 609

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. The epistatic relationship between BRCA2 and the other RAD51 mediators in homologous recombination. Qing Y, et al. PLoS Genet, 2011 Jul. PMID 21779174, Free PMC Article
  2. DNA homologous recombination factor SFR1 physically and functionally interacts with estrogen receptor alpha. Feng Y, et al. PLoS One, 2013. PMID 23874500, Free PMC Article
  3. 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
  4. 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
  5. Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. Zhao L, et al. Ann Hum Genet, 2013 Jul. PMID 23551011, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SFR1 is a novel transcriptional modulator for ERalpha and a potential target in breast cancer therapy.
    Title: DNA homologous recombination factor SFR1 physically and functionally interacts with estrogen receptor alpha.
  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.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
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

EBI GWAS Catalog

Description
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
EBI GWAS Catalog

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

Clone Names

  • FLJ41960

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nuclear receptor coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nuclear receptor coactivator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to estrogen stimulus 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 
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
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 centrosome IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus 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
swi5-dependent recombination DNA repair protein 1 homolog
Names
MEI5 recombination repair protein homolog
SWI5-dependent recombination repair 1
SWI5-dependent recombination repair protein 1
meiosis protein 5 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_001002759.2 → NP_001002759.1  swi5-dependent recombination DNA repair protein 1 homolog isoform a

    See identical proteins and their annotated locations for NP_001002759.1

    Status: VALIDATED

    Source sequence(s)
    AL357336
    Consensus CDS
    CCDS31279.1
    UniProtKB/Swiss-Prot
    A8K569, B2RTV8, Q5JT39, Q5JT40, Q86XK3, Q8WW47
    Related
    ENSP00000358742.3, ENST00000369727.4
    Conserved Domains (1) summary
    pfam10376
    Location:25 → 236
    Mei5; Double-strand recombination repair protein

  2. NM_001384829.1 → NP_001371758.1  swi5-dependent recombination DNA repair protein 1 homolog isoform b

    Status: VALIDATED

    Source sequence(s)
    AL357336
    Consensus CDS
    CCDS31280.1
    Conserved Domains (1) summary
    pfam10376
    Location:12 → 223
    Mei5; Double-strand recombination repair protein

  3. NM_001384830.1 → NP_001371759.1  swi5-dependent recombination DNA repair protein 1 homolog isoform b

    Status: VALIDATED

    Source sequence(s)
    AL357336
    Consensus CDS
    CCDS31280.1
    Conserved Domains (1) summary
    pfam10376
    Location:12 → 223
    Mei5; Double-strand recombination repair protein

  4. NM_145247.5 → NP_660290.3  swi5-dependent recombination DNA repair protein 1 homolog isoform b

    See identical proteins and their annotated locations for NP_660290.3

    Status: VALIDATED

    Source sequence(s)
    AL357336
    Consensus CDS
    CCDS31280.1
    UniProtKB/Swiss-Prot
    Q86XK3
    Related
    ENSP00000358744.3, ENST00000369729.7
    Conserved Domains (1) summary
    pfam10376
    Location:12 → 223
    Mei5; Double-strand recombination repair protein

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    104120166..104126383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047424579.1 → XP_047280535.1  swi5-dependent recombination DNA repair protein 1 homolog isoform X2

  2. XM_005269521.4 → XP_005269578.1  swi5-dependent recombination DNA repair protein 1 homolog isoform X1

    See identical proteins and their annotated locations for XP_005269578.1

    UniProtKB/Swiss-Prot
    Q86XK3
    Conserved Domains (1) summary
    pfam10376
    Location:87 → 298
    Mei5; Double-strand recombination repair protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    105008277..105014494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054364750.1 → XP_054220725.1  swi5-dependent recombination DNA repair protein 1 homolog isoform X2

  2. XM_054364749.1 → XP_054220724.1  swi5-dependent recombination DNA repair protein 1 homolog isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86XK3.2 GenPept UniProtKB/Swiss-Prot:Q86XK3

Gene LinkOut

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