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ZSWIM7 Gene

protein-coding   GIFtS: 40
GCID: GC17M015879

Zinc Finger, SWIM-Type Containing 7

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Zinc Finger, SWIM-Type Containing 71 2
SWS12 3 5
SWIM Domain-Containing And Srs2-Interacting Protein 1 Homolog2 3
SWIM-Type Zinc Finger Domain-Containing Protein 72 3
SWIM Domain Containing Srs2 Interacting Protein 11
Zinc Finger SWIM Domain-Containing Protein 72

External Ids:    HGNC: 269931   Entrez Gene: 1251502   Ensembl: ENSG000002149417   OMIM: 6145355   UniProtKB: Q19AV63   
ORGUL members:         

Export aliases for ZSWIM7 gene to outside databases

Previous GC identifers: GC17U900830 GC17M015820


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ZSWIM7 Gene:
ZSWIM7 (zinc finger, SWIM-type containing 7) is a protein-coding gene. Diseases associated with ZSWIM7 include blue color blindness, and color blindness.

UniProtKB/Swiss-Prot: ZSWM7_HUMAN, Q19AV6
Function: Involved in early stages of the homologous recombination repair (HRR) pathway of double-stranded DNA
breaks arising during DNA replication or induced by DNA-damaging agents




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZSWIM7 gene promoter:
         Nkx3-1   Nkx3-1 v4   Nkx3-1 v1   CREB   Nkx3-1 v2   MEF-2A   deltaCREB   Nkx3-1 v3   Cart-1   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ZSWIM7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZSWIM7


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

Entrez Gene cytogenetic band: 17p12   Ensembl cytogenetic band:  17p12   HGNC cytogenetic band: 17p11.2

ZSWIM7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZSWIM7 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M015879:  view genomic region     (about GC identifiers)

Start:
15,879,874 bp from pter      End:
15,903,031 bp from pter
Size:
23,158 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ZSWM7_HUMAN, Q19AV6 (See protein sequence)
Recommended Name: Zinc finger SWIM domain-containing protein 7  
Size: 140 amino acids; 15386 Da
Subunit: Interacts with RAD51D and XRCC3; involved in homologous recombination repair. Interacts with SWSAP1; they
form a functional complex involved in homologous recombination repair and stabilize each other

Explore the universe of human proteins at neXtProt for ZSWIM7: NX_Q19AV6

Explore proteomics data for ZSWIM7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ZSWIM7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001036162.1  NP_001036163.1  

    ENSEMBL proteins: 
     ENSP00000462208   ENSP00000464605   ENSP00000382218   ENSP00000463592   ENSP00000464371  
     ENSP00000464500   ENSP00000419138   ENSP00000462590   ENSP00000462598   ENSP00000464227  
     ENSP00000463327   ENSP00000464463   ENSP00000463444  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZSWIM: Zinc fingers, SWIM-type

    1 InterPro protein domain:
     IPR007527 Znf_SWIM

    Graphical View of Domain Structure for InterPro Entry Q19AV6

    ProtoNet protein and cluster: Q19AV6

    UniProtKB/Swiss-Prot: ZSWM7_HUMAN, Q19AV6
    Similarity: Belongs to the SWS1 family
    Similarity: Contains 1 SWIM-type zinc finger


    ZSWIM7 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZSWM7_HUMAN, Q19AV6
    Function: Involved in early stages of the homologous recombination repair (HRR) pathway of double-stranded DNA
    breaks arising during DNA replication or induced by DNA-damaging agents

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
         
    ZSWIM7 for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target ZSWIM7:
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    hsa-miR-4287
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ZSWM7_HUMAN, Q19AV6: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    extracellular2
    cytosol1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0097196Shu complex IDA--

    ZSWIM7 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZSWIM7
    Interactions:

        Search GeneGlobe Interaction Network for ZSWIM7

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for ZSWIM7 (Q19AV61, 3 ENSP000003822184) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAD51DO757713, ENSP000003780904I2D: score=1 STRING: ENSP00000378090
    SWSAP1Q6NVH71, ENSP000003100084EBI-5281647,EBI-5281637 STRING: ENSP00000310008
    XRCC3ENSP000003433924STRING: ENSP00000343392
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination IMP--
    GO:0050821protein stabilization IMP--

    ZSWIM7 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ZSWIM7 (ZSWM7)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ZSWIM7 gene (2 alternative transcripts): 
    NM_001042697.1  NM_001042698.1  

    Unigene Cluster for ZSWIM7:

    Zinc finger, SWIM-type containing 7
    Hs.593985  [show with all ESTs]
    Unigene Representative Sequence: NM_001042697
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476496 ENST00000490395 ENST00000399277(uc002gpe.3 uc002gpf.3 uc002gpg.3)
    ENST00000399280 ENST00000497434 ENST00000497719 ENST00000584519 ENST00000486655
    ENST00000474716 ENST00000472495 ENST00000460315 ENST00000491631 ENST00000495825
    ENST00000585208 ENST00000486706 ENST00000460252 ENST00000475498 ENST00000579955

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate ZSWIM7:
    hsa-miR-4287
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional mRNA sequence: 

    AK093384.1 BC018807.1 BC044842.1 BC066344.1 BC089386.1 BC094855.1 DQ530600.1 

    13 DOTS entries:

    DT.87015989  DT.100817644  DT.101959939  DT.120903608  DT.100817645  DT.100027091  DT.97765299  DT.120903406 
    DT.100799567  DT.100027092  DT.120903478  DT.100701898  DT.40121212 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ZSWIM7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTGTCCAC
    ZSWIM7 Expression
    About this image

    ZSWIM7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZSWIM7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.593985
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    In Situ
    Assay Products:
     

     
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ZSWIM7 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zswim71 , 5 zinc finger, SWIM-type containing 75
    zinc finger SWIM-type containing 71
    81.16(n)1
    81.88(a)1
      11 (37.99 cM)5
    697471  NM_027198.11  NP_081474.11 
     622672245 
    chicken
    (Gallus gallus)
    Aves ZSWIM71 zinc finger, SWIM-type containing 7 65.71(n)
    62.14(a)
      417596  NM_001197135.1  NP_001184064.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia zswim71 zinc finger, SWIM-type containing 7 63.41(n)
    61.65(a)
      101735140  XM_004911686.1  XP_004911743.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zswim71 zinc finger, SWIM-type containing 7 58.33(n)
    56.06(a)
      325530  NM_001083540.1  NP_001077009.1 


    ENSEMBL Gene Tree for ZSWIM7 (if available)
    TreeFam Gene Tree for ZSWIM7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ZSWIM7 (see all 445)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1880587631,2
    --15867601(+) GGAGAA/CTCATG 2 -- ds50010--------
    rs18606431,2
    C,F,A--15867612(+) TGAACT/CTGGGA 2 -- ds50013Minor allele frequency- C:0.40NA CSA 5
    rs10455991,2
    C,F,O,A,H--15879910(-) CAACAA/GATAAA 2 -- ut3123Minor allele frequency- G:0.46MN NS EA WA NA CSA 2528
    rs1845490431,2
    --15879994(+) GCATTC/GATTCA 2 -- ut310--------
    rs1394793891,2
    --15880157(+) TCCTTC/TTAGGA 2 -- ut310--------
    rs1434466731,2
    C--15880239(+) CTTCAC/TGTATT 2 -- ut310--------
    rs770575811,2
    C,F--15880263(+) TCTCTC/TGGTGT 2 -- ut311Minor allele frequency- T:0.04WA 118
    rs1471354051,2
    C--15880264(+) CTCTCA/GGTGTC 2 -- ut310--------
    rs798373361,2
    C,F--15880428(+) AAGTGC/TAGAGT 2 -- ut312Minor allele frequency- T:0.17WA EA 238
    rs116532101,2
    C,H--15880502(+) TTGGCA/CCAAGC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ZSWIM7 (15879874 - 15903031 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ZSWIM7:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715706CNV Deletion23290073
    esv1788130CNV Deletion17803354
    esv2715702CNV Deletion23290073
    esv29086CNV Loss19812545
    dgv3062n71CNV Gain21882294
    nsv907706CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614535    OMIM disorders: --

    3 diseases for ZSWIM7:    
    About MalaCards
    blue color blindness    color blindness    blindness


    ZSWIM7 for disorders           About GeneDecksing


    Export disorders for ZSWIM7 gene to outside databases

    (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)
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    PubMed articles for ZSWIM7 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ZSWIM7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sws1 is a conserved regulator of homologous recombination in eukaryotic cells. (PubMed id 16710300)1, 2, 3 Martin V.... Russell P. (EMBO J. 2006)
    2. hSWS1.SWSAP1 is an evolutionarily conserved complex required for efficient homologous recombination repair. (PubMed id 21965664)1, 2 Liu T.... Huang J. (J. Biol. Chem. 2011)
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 125150 HGNC: 26993 Ensembl:ENSG00000214941 euGenes: HUgn125150 ECgene: ZSWIM7
    H-InvDB: ZSWIM7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ZSWIM7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ZSWIM7 gene:
    Search GeneIP for patents involving ZSWIM7

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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