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

    Gene ID: 119392, updated on 26-Nov-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 DNA-templated transcription. Located in centrosome; nucleolus; and nucleoplasm. Part of Swi5-Sfr1 complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 6.8), appendix (RPKM 2.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SFR1 in Genome Data Viewer
    Location:
    10q25.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (104120166..104126383)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (105008277..105014494)
    RS_2024_09 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. 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. 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
    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 (19) 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)

    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 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_2024_08

    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

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

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