Aliases for SFR1 Gene

Aliases for SFR1 Gene

  • SWI5 Dependent Homologous Recombination Repair Protein 1 2 3 5
  • Swi5-Dependent Recombination DNA Repair Protein 1 Homolog 3 4
  • SWI5-Dependent Recombination Repair 1 2 3
  • Meiosis Protein 5 Homolog 3 4
  • C10orf78 3 4
  • MEIR5 3 4
  • MEI5 3 4
  • MEI5 Recombination Repair Protein Homolog (S. Cerevisiae) 2
  • SWI5-Dependent Homologous Recombination Repair Protein 1 2
  • SWI5-Dependent Recombination Repair Protein 1 3
  • MEI5 Recombination Repair Protein Homolog 3
  • Chromosome 10 Open Reading Frame 78 2
  • BA373N18.1 3

External Ids for SFR1 Gene

Previous HGNC Symbols for SFR1 Gene

  • C10orf78
  • MEIR5

Previous GeneCards Identifiers for SFR1 Gene

  • GC10P105882

Summaries for SFR1 Gene

GeneCards Summary for SFR1 Gene

SFR1 (SWI5 Dependent Homologous Recombination Repair Protein 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for SFR1 Gene

  • Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination (PubMed:21252223). Acts as a transcriptional modulator for ESR1 (PubMed:23874500).

Additional gene information for SFR1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFR1 Gene

Genomics for SFR1 Gene

GeneHancer (GH) Regulatory Elements for SFR1 Gene

Promoters and enhancers for SFR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J104115 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -2.5 -2522 8.3 FOXK2 ZBTB40 EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G USF1 SFR1 MIR936 CFAP43 lnc-CFAP43-5 RF00017-796
GH10J104109 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 42.8 -11.9 -11857 2 TCF12 FOS EP300 HES1 SIX5 FOSL2 CEBPB PBX2 JUN ATF3 SFR1 COL17A1 MIR936 STN1 CFAP43 GSTO1 CFAP58 SLK RF00017-796 lnc-CFAP43-5
GH10J104089 Enhancer 0.8 FANTOM5 Ensembl dbSUPER 71 -31.5 -31457 2 FOS MAFK STAT3 SFR1 MIR936 GSTO1 CFAP58 CFAP43 SLK COL17A1 RF00017-796
GH10J104316 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.4 +206.7 206713 24.8 ZBTB40 ZNF217 ZSCAN5C TCF12 MYC POLR2G SP1 RBAK PHF8 JUND ITPRIP CFAP58 TAF5 PDCD11 GSTO2 SFR1 ENSG00000260461 CFAP58-DT GSTO1 SLK
GH10J103691 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.6 -429.5 -429521 2.3 SIN3A NRF1 SP1 EP300 ZBTB10 ZBTB26 SAP30 RELA RCOR1 POLR2A ENSG00000260461 PCGF6 SFR1 SLK PDCD11 SH3PXD2A CALHM2 NEURL1 NEURL1-AS1 STN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFR1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFR1

Genomic Locations for SFR1 Gene

Genomic Locations for SFR1 Gene
chr10:104,122,058-104,126,385
(GRCh38/hg38)
Size:
4,328 bases
Orientation:
Plus strand
chr10:105,881,816-105,886,143
(GRCh37/hg19)
Size:
4,328 bases
Orientation:
Plus strand

Genomic View for SFR1 Gene

Genes around SFR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFR1 Gene

Proteins for SFR1 Gene

  • Protein details for SFR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XK3-SFR1_HUMAN
    Recommended name:
    Swi5-dependent recombination DNA repair protein 1 homolog
    Protein Accession:
    Q86XK3
    Secondary Accessions:
    • A8K569
    • B2RTV8
    • Q5JT39
    • Q5JT40
    • Q8WW47

    Protein attributes for SFR1 Gene

    Size:
    245 amino acids
    Molecular mass:
    28262 Da
    Quaternary structure:
    • Component of the SWI5-SFR1 complex. Interacts with RAD51; the interaction is weak (PubMed:21252223). Interacts with ESR1 in the ligand-independent and ligand-dependent manner (PubMed:23874500).

    Alternative splice isoforms for SFR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SFR1 Gene

Post-translational modifications for SFR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SFR1 Gene

No data available for DME Specific Peptides for SFR1 Gene

Domains & Families for SFR1 Gene

Gene Families for SFR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SFR1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SFR1 Gene

GenScript: Design optimal peptide antigens:
  • Meiosis protein 5 homolog (SFR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86XK3

UniProtKB/Swiss-Prot:

SFR1_HUMAN :
  • Belongs to the SFR1/MEI5 family.
Family:
  • Belongs to the SFR1/MEI5 family.
genes like me logo Genes that share domains with SFR1: view

Function for SFR1 Gene

Molecular function for SFR1 Gene

UniProtKB/Swiss-Prot Function:
Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination (PubMed:21252223). Acts as a transcriptional modulator for ESR1 (PubMed:23874500).

Phenotypes From GWAS Catalog for SFR1 Gene

Gene Ontology (GO) - Molecular Function for SFR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21252223
GO:0030374 nuclear receptor transcription coactivator activity IBA,IDA 23874500
genes like me logo Genes that share ontologies with SFR1: view
genes like me logo Genes that share phenotypes with SFR1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SFR1 Gene

Localization for SFR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFR1 Gene

Nucleus. Note=Colocalizes with ESR1 in the nucleus. {ECO:0000269 PubMed:23874500}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SFR1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 0

Gene Ontology (GO) - Cellular Components for SFR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0032798 Swi5-Sfr1 complex IEA,IDA 21252223
genes like me logo Genes that share ontologies with SFR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SFR1 Gene

Pathways & Interactions for SFR1 Gene

PathCards logo

SuperPathways for SFR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SFR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP 21252223
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0045893 positive regulation of transcription, DNA-templated IDA,IBA 23874500
GO:0071391 cellular response to estrogen stimulus IDA 23874500
genes like me logo Genes that share ontologies with SFR1: view

No data available for Pathways by source and SIGNOR curated interactions for SFR1 Gene

Drugs & Compounds for SFR1 Gene

No Compound Related Data Available

Transcripts for SFR1 Gene

mRNA/cDNA for SFR1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SFR1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1:
SP2: - -
SP3: - -
SP4:

Relevant External Links for SFR1 Gene

GeneLoc Exon Structure for
SFR1

Expression for SFR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SFR1 Gene

Protein differential expression in normal tissues from HIPED for SFR1 Gene

This gene is overexpressed in Colon muscle (64.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SFR1 Gene



Protein tissue co-expression partners for SFR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SFR1

SOURCE GeneReport for Unigene cluster for SFR1 Gene:

Hs.93667

mRNA Expression by UniProt/SwissProt for SFR1 Gene:

Q86XK3-SFR1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for SFR1 Gene

  • Lung(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SFR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SFR1 Gene

Orthologs for SFR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SFR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SFR1 31 30
  • 99.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SFR1 31 30
  • 87.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SFR1 31 30
  • 86.19 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sfr1 30
  • 75.31 (n)
mouse
(Mus musculus)
Mammalia Sfr1 17 31 30
  • 68.35 (n)
oppossum
(Monodelphis domestica)
Mammalia SFR1 31
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SFR1 31
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SFR1 31 30
  • 61.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SFR1 31
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sfr1 30
  • 57.24 (n)
zebrafish
(Danio rerio)
Actinopterygii sfr1 31 30
  • 53.44 (n)
OneToOne
Species where no ortholog for SFR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SFR1 Gene

ENSEMBL:
Gene Tree for SFR1 (if available)
TreeFam:
Gene Tree for SFR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFR1: view image

Paralogs for SFR1 Gene

Pseudogenes.org Pseudogenes for SFR1 Gene

genes like me logo Genes that share paralogs with SFR1: view

No data available for Paralogs for SFR1 Gene

Variants for SFR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFR1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs10786783 - p.Asp19Gly

Additional dbSNP identifiers (rs#s) for SFR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SFR1 Gene

Variant ID Type Subtype PubMed ID
nsv831971 CNV gain 17160897

Variation tolerance for SFR1 Gene

Residual Variation Intolerance Score: 80.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.58; 78.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFR1 Gene

Disorders for SFR1 Gene

Additional Disease Information for SFR1

No disorders were found for SFR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SFR1 Gene

Publications for SFR1 Gene

  1. The role of the human SWI5-MEI5 complex in homologous recombination repair. (PMID: 21252223) Yuan J … Chen J (The Journal of biological chemistry 2011) 2 3 4 54
  2. DNA homologous recombination factor SFR1 physically and functionally interacts with estrogen receptor alpha. (PMID: 23874500) Feng Y … Khan S (PloS one 2013) 3 4 54
  3. The epistatic relationship between BRCA2 and the other RAD51 mediators in homologous recombination. (PMID: 21779174) Qing Y … Takeda S (PLoS genetics 2011) 2 3 54
  4. Role for the mammalian Swi5-Sfr1 complex in DNA strand break repair through homologous recombination. (PMID: 20976249) Akamatsu Y … Jasin M (PLoS genetics 2010) 2 3 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for SFR1 Gene

Sources for SFR1 Gene