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

ZSWIM7 Gene

protein-coding   GIFtS: 38
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)
About This Section

Aliases
Zinc Finger, SWIM-Type Containing 71 2     SWIM-Type Zinc Finger Domain-Containing Protein 72 3
SWIM Domain Containing Srs2 Interacting Protein 11 2     SWIM-Domain Containing Srs2 Interacting Protein 12
SWS12 3     Zinc Finger SWIM Domain-Containing Protein 72
SWIM Domain-Containing And Srs2-Interacting Protein 1 Homolog2 3     

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

Export aliases for ZSWIM7 gene to outside databases

Previous GC identifers: GC17U900830 GC17M015820


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

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. GO annotations related to this gene include protein binding and zinc ion binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010718.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ZSWIM7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus (Probable)

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

Explore proteomics data for ZSWIM7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q19AV6

  • ZSWIM7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZSWIM7 Protein Expression
    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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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    ZSWIM7 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
    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,
    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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
         
    ZSWIM7 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 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 (GO ID links to tree view):    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 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 ZSWIM7 (ZSWM7)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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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    hsa-miR-4287
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    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™, 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

    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


    See ZSWIM7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZSWIM7

    SOURCE GeneReport for Unigene cluster: Hs.593985
        SABiosciences Custom PCR Arrays for ZSWIM7
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ZSWIM7 gene from 3/8 species (see all 8)    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)
    62.59(a)
      417596  NM_001197134.1  NP_001184063.1 
    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)
    About This Section
      --

    (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

    10/445 SNPs in ZSWIM7 are shown (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

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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
    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)
    About This Section

    PubMed articles for ZSWIM7 gene integrated from 9 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. (2006)
    2. hSWS1.SWSAP1 is an evolutionarily conserved complex required for efficient homologous recombination repair. (PubMed id 21965664)1, 2 Liu T.... Huang J. (2011)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (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)

    (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: 125150 HGNC: 26993 Ensembl:ENSG00000214941 euGenes: HUgn125150 ECgene: ZSWIM7
    H-InvDB: ZSWIM7

    (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 ZSWIM7 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 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, 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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