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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SWI5 Gene

protein-coding   GIFtS: 33
GCID: GC09P131044

SWI5 Recombination Repair Homolog (Yeast)

(Previous name: chromosome 9 open reading frame 119)
(Previous symbol: C9orf119)
  Search for SWI5
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SWI5 Recombination Repair Homolog (Yeast)1 2     Chromosome 9 Open Reading Frame 1191
C9orf1191 2 3     bA395P17.92
Protein SAE3 Homolog2 3     DNA Repair Protein SWI5 Homolog2
HBV DNAPTP1-Transactivated Protein A2 3     SAE33

External Ids:    HGNC: 314121   Entrez Gene: 3757572   Ensembl: ENSG000001758547   UniProtKB: Q1ZZU33   

Export aliases for SWI5 gene to outside databases

Previous GC identifers: GC09P131038 GC09P131039 GC09P131041


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SWI5 Gene: 
SWI5 (SWI5 recombination repair homolog (yeast)) is a protein-coding gene. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: SWI5_HUMAN, Q1ZZU3
Function: Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous
recombination




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SWI5
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SWI5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SWI5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.13

SWI5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SWI5 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P131044:  view genomic region     (about GC identifiers)

Start:
131,037,658 bp from pter      End:
131,051,269 bp from pter
Size:
13,612 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
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About This Section

UniProtKB/Swiss-Prot: SWI5_HUMAN, Q1ZZU3 (See protein sequence)
Recommended Name: DNA repair protein SWI5 homolog  
Size: 235 amino acids; 26739 Da
Subunit: Component of the SWI5-SFR1 complex. Interacts with RAD51
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=CAI13840.1; Type=Erroneous gene model prediction; Sequence=CAI13843.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAI13844.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5SYX7 Q5SYX8 Q8N2W6

Explore the universe of human proteins at neXtProt for SWI5: NX_Q1ZZU3

Explore proteomics data for SWI5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q1ZZU3

  • SWI5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SWI5 Protein Expression
    REFSEQ proteins: NP_001035100.1  
    ENSEMBL proteins: 
     ENSP00000419719   ENSP00000361989   ENSP00000316609   ENSP00000411469  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0032798Swi5-Sfr1 complex IDA--

    SWI5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR010760 DNA-repair_Swi5

    Graphical View of Domain Structure for InterPro Entry Q1ZZU3

    ProtoNet protein and cluster: Q1ZZU3

    UniProtKB/Swiss-Prot: SWI5_HUMAN, Q1ZZU3
    Similarity: Belongs to the SWI5/SAE3 family


    SWI5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SWI5_HUMAN, Q1ZZU3
    Function: Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous
    recombination

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    SWI5 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SWI5

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SWI5 (ENSP000003166094) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFR1ENSP000003587424STRING: ENSP00000358742
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination IMP--
    GO:0071479cellular response to ionizing radiation IDA--

    SWI5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SWI5

    Search CenterWatch for drugs/clinical trials and news about SWI5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SWI5 gene: 
    NM_001040011.1  

    Unigene Cluster for SWI5:

    SWI5 recombination repair homolog (yeast)
    Hs.259594  [show with all ESTs]
    Unigene Representative Sequence: BU502597
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000495313 ENST00000372898 ENST00000320188(uc004bup.3) ENST00000419867(uc010mxx.1)
    ENST00000418976
    miRNA
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    Additional mRNA sequence: 

    AK311408.1 BC029911.1 DQ414820.1 

    8 DOTS entries:

    DT.91709622  DT.100755109  DT.211884  DT.91759938  DT.100670445  DT.91759937  DT.95110274  DT.95368338 

    24/97 AceView cDNA sequences (see all 97):

    BU502470 BM835301 AI911723 CB154255 BU731468 CB161208 AA041356 CD678061 
    BC029911 AA864210 BM764620 AI262198 BF516360 AI073907 BE207254 CK300124 
    CB124669 BG656389 AW148808 BE041791 BG541668 BE728958 AW007494 BE729679 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SWI5    About this scheme

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


    ECgene alternative splicing isoforms for SWI5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SWI5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTTTATTT
    SWI5 Expression
    About this image


    See SWI5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SWI5

    SOURCE GeneReport for Unigene cluster: Hs.259594
        SABiosciences Custom PCR Arrays for SWI5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SWI5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SWI5 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Swi51 , 5 SWI5 recombination repair homolog (yeast)1, 5 79.84(n)1
    75.31(a)1
      2 (22.09 cM)5
    729311  NM_175190.41  NP_780399.11 
     322788165 
    chicken
    (Gallus gallus)
    Aves SWI51 SWI5 recombination repair homolog (yeast) 64.08(n)
    60.19(a)
      427767  XM_001234909.2  XP_001234910.2 
    lizard
    (Anolis carolinensis)
    Reptilia SWI56
    Uncharacterized protein
    66(a)
    1 ↔ 1
    GL343763.1(18409-20390)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.332052 Xenopus laevis transcribed sequences 74.21(n)    AW640652.1 
    zebrafish
    (Danio rerio)
    Actinopterygii swi56
    SWI5 recombination repair homolog (yeast)
    35(a)
    1 ↔ 1
    10(10694766-10703146)


    ENSEMBL Gene Tree for SWI5 (if available)
    TreeFam Gene Tree for SWI5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SWI5 gene

    SWI5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SWI5
    PGOHUM00000246840


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/269 SNPs in SWI5 are shown (see all 269)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1900668921,2
    --131040323(+) GCCTCC/GCAGGC 1 -- int10--------
    rs1823530451,2
    --131040459(+) AAACTC/GGTGAG 1 -- int10--------
    rs751863471,2
    C,F--131040482(+) TGCCCG/ACCTCG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1409117951,2
    C--131040526(+) CACCAC/TGCCCA 1 -- int10--------
    rs1910200461,2
    --131040719(+) TACATG/TCCTGT 1 -- int10--------
    rs1841047941,2
    --131040834(+) CGAAAC/TTCCAT 1 -- int10--------
    rs562036221,2
    C,F--131040874(+) GAGCAT/CTGTCC 1 -- int17Minor allele frequency- C:0.38WA NA CSA EA 365
    rs1886536471,2
    --131040916(+) AGTTCC/GTTCCA 1 -- int10--------
    rs1931552151,2
    --131041016(+) CTGGGG/TGCTTT 1 -- int10--------
    rs1832890421,2
    C--131041047(+) TTTTGG/TTTTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for SWI5 (131037658 - 131051269 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SWI5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831728CNV Loss17160897
    dgv8294n71CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SWI5 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SWI5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The role of human SWI5-MEI5 complex in homologous recombination repair. (PubMed id 21252223)1, 2, 3 Yuan J. and Chen J. (2011)
    2. Role for the mammalian Swi5-Sfr1 complex in DNA stran d break repair through homologous recombination. (PubMed id 20976249)1, 3 Akamatsu Y. and Jasin M. (2010)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    6. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 375757 HGNC: 31412 AceView: C9orf119 Ensembl:ENSG00000175854 euGenes: HUgn375757
    ECgene: SWI5 H-InvDB: SWI5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SWI5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SWI5 gene:
    Search GeneIP for patents involving SWI5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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