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

    Gene ID: 119392, updated on 23-Nov-2021

    Summary

    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
    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
    Expression
    Broad expression in testis (RPKM 6.8), appendix (RPKM 2.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SFR1 in Genome Data Viewer
    Location:
    10q25.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (104120166..104126385)
    105.20201022 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 microRNA 936 Neighboring gene cilia and flagella associated protein 43 Neighboring gene tropomyosin 3 pseudogene Neighboring gene microRNA 609

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    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.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    enables nuclear receptor coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    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

    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)

    NEW Try the new Transcript table

    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_001002759.2NP_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
      Q86XK3
      Related
      ENSP00000358742.3, ENST00000369727.4
      Conserved Domains (1) summary
      pfam10376
      Location:25236
      Mei5; Double-strand recombination repair protein
    2. NM_001384829.1NP_001371758.1  swi5-dependent recombination DNA repair protein 1 homolog isoform b

      Status: VALIDATED

      Source sequence(s)
      AL357336
      Conserved Domains (1) summary
      pfam10376
      Location:12223
      Mei5; Double-strand recombination repair protein
    3. NM_001384830.1NP_001371759.1  swi5-dependent recombination DNA repair protein 1 homolog isoform b

      Status: VALIDATED

      Source sequence(s)
      AL357336
      Conserved Domains (1) summary
      pfam10376
      Location:12223
      Mei5; Double-strand recombination repair protein
    4. NM_145247.5NP_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:12223
      Mei5; Double-strand recombination repair protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      104120166..104126385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269521.3XP_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:87298
      Mei5; Double-strand recombination repair protein
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