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

SWSAP1 Gene

protein-coding   GIFtS: 37
GCID: GC19P011486

SWIM-Type Zinc Finger 7 Associated Protein 1

(Previous name: chromosome 19 open reading frame 39)
(Previous symbol: C19orf39)
  See related disease
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
SWIM-Type Zinc Finger 7 Associated Protein 11 2     Chromosome 19 Open Reading Frame 391
C19orf391 2 3     SWIM-Type Containing 7 Associated Protein 11
SWS1-Associated Protein 11 2 3     Zinc Finger1
ZSWIM7AP12 3     SWS1AP12
SWIM-Type Zinc Finger 7-Associated Protein 12 3     ATPase SWSAP12
ZSWIM7-Associated Protein 12 3     Zinc Finger, SWIM-Type Containing 7 Associated Protein 12

External Ids:    HGNC: 266381   Entrez Gene: 1260742   Ensembl: ENSG000001739287   OMIM: 6145365   UniProtKB: Q6NVH73   

Export aliases for SWSAP1 gene to outside databases


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

GeneCards Summary for SWSAP1 Gene: 
SWSAP1 (SWIM-type zinc finger 7 associated protein 1) is a protein-coding gene. Diseases associated with SWSAP1 include alzheimer's disease. GO annotations related to this gene include single-stranded DNA binding and ATPase activity.

UniProtKB/Swiss-Prot: SWAP1_HUMAN, Q6NVH7
Function: ATPase which is preferentially stimulated by single-stranded DNA and is involved in homologous
recombination repair (HRR). Has a DNA-binding activity which is independent of its ATPase activity




(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_000019.9  NC_018930.2  NT_011295.11  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SWSAP1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SWSAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SWSAP1


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

SWSAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SWSAP1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P011486:  view genomic region     (about GC identifiers)

Start:
11,485,361 bp from pter      End:
11,487,627 bp from pter
Size:
2,267 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.,
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: SWAP1_HUMAN, Q6NVH7 (See protein sequence)
Recommended Name: ATPase SWSAP1  
Size: 229 amino acids; 24311 Da
Subunit: Interacts with ZSWIM7; they form a functional complex involved in homologous recombination repair and
stabilize each other. Interacts with RAD51, RAD51B, RAD51C, RAD51D and XRCC3; involved in homologous
recombination repair
Subcellular location: Nucleus (Probable)
Secondary accessions: Q8NAM1

Explore the universe of human proteins at neXtProt for SWSAP1: NX_Q6NVH7

Explore proteomics data for SWSAP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6NVH7

  • SWSAP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SWSAP1 Protein Expression
    REFSEQ proteins: NP_787067.2  
    ENSEMBL proteins: 
     ENSP00000310008  

    Human Recombinant Protein Products for SWSAP1: 
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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--

    SWSAP1 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

    ProtoNet protein and cluster: Q6NVH7


    (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: SWAP1_HUMAN, Q6NVH7
    Function: ATPase which is preferentially stimulated by single-stranded DNA and is involved in homologous
    recombination repair (HRR). Has a DNA-binding activity which is independent of its ATPase activity

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003697single-stranded DNA binding IDA--
    GO:0005515protein binding IPI--
    GO:0016887ATPase activity IDA--
         
    SWSAP1 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 SWSAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for SWSAP1 (Q6NVH71 ENSP000003100084) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XRCC3O435421, ENSP000003433924EBI-5281637,EBI-2849976 STRING: ENSP00000343392
    RAD51DO757711, ENSP000003780904EBI-5281637,EBI-1055693 STRING: ENSP00000378090
    RAD51Q066091, ENSP000002678684EBI-5281637,EBI-297202 STRING: ENSP00000267868
    RAD51CO435021, ENSP000003367014EBI-5281637,EBI-2267048 STRING: ENSP00000336701
    ZSWIM7Q19AV61, ENSP000003822184EBI-5281637,EBI-5281647 STRING: ENSP00000382218
    About this table

    Gene Ontology (GO): 3 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:0006200ATP catabolic process IDA--
    GO:0050821protein stabilization IMP--

    SWSAP1 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 SWSAP1 (SWAP1)

    Search CenterWatch for drugs/clinical trials and news about SWSAP1 / SWAP1

    (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 SWSAP1 gene: 
    NM_175871.3  

    Unigene Cluster for SWSAP1:

    SWIM-type zinc finger 7 associated protein 1
    Hs.631619  [show with all ESTs]
    Unigene Representative Sequence: NM_175871
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000312423(uc002mrg.1)
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK092438.1 BC068071.1 BC119677.2 

    3 DOTS entries:

    DT.405470  DT.95262016  DT.91663610 

    24/53 AceView cDNA sequences (see all 53):

    AL045438 BU677559 AI192241 BM918827 AI341600 CA449500 BC068071 BM670208 
    BM712144 AW452372 CF541010 CA412949 AI745355 AI382116 BQ011347 AI871573 
    BG705718 AI806078 BQ011101 CF528967 CD518817 AI743019 BI596539 NM_175871 

    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

    SWSAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGGAATAC
    SWSAP1 Expression
    About this image


    See SWSAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SWSAP1

    SOURCE GeneReport for Unigene cluster: Hs.631619
        SABiosciences Custom PCR Arrays for SWSAP1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SWSAP1

    (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 SWSAP1 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Swsap11 , 5 RIKEN cDNA 2310047B19 gene5
    SWIM type zinc finger 7 associated protein 11
    71.28(n)1
    69.2(a)1
      9 (7.93 cM)5
    669621  NM_025870.11  NP_080146.11 
     219557535 
    lizard
    (Anolis carolinensis)
    Reptilia SWSAP16
    SWIM-type zinc finger 7 associated protein 1
    35(a)
    1 ↔ 1
    2(79007054-79019362)
    zebrafish
    (Danio rerio)
    Actinopterygii swsap16
    SWIM-type zinc finger 7 associated protein 1
    20(a)
    1 ↔ 1
    3(14170454-14176207)


    ENSEMBL Gene Tree for SWSAP1 (if available)
    TreeFam Gene Tree for SWSAP1 (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

    10/92 SNPs in SWSAP1 are shown (see all 92)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1506751161,2
    --11483393(+) AGTGGC/TACAAT 1 -- us2k10--------
    rs1399082291,2
    --11483685(+) TTTTTA/CGTAGA 1 -- us2k10--------
    rs1498958091,2
    C--11483742(+) TTGTGA/GTCTGC 1 -- us2k10--------
    rs1439579581,2
    C--11483769(+) AAGTGC/TTGGGA 1 -- us2k10--------
    rs1866836821,2
    --11483875(+) GAACTC/TTTGGC 1 -- us2k10--------
    rs1167653131,2
    C--11483991(+) TCATGC/GGTTGT 1 -- us2k10--------
    rs1442490481,2
    --11484027(+) GGTGGC/TGTGTT 1 -- us2k10--------
    rs754853841,2
    C,F--11484039(+) GACAGC/TGCAGT 1 -- us2k11Minor allele frequency- T:0.03EA 120
    rs1914299061,2
    --11484054(+) CGGTGA/TGCTTC 1 -- us2k10--------
    rs1112499861,2
    C--11484237(+) TGTGTGTGT/-  
            
    AGAGG
    1 -- us2k11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for SWSAP1 (11485361 - 11487627 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SWSAP1: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SWSAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for SWSAP1

    (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: 614536    OMIM disorders: --

    2 diseases for SWSAP1:    About MalaCards
    alzheimer's disease    


    SWSAP1 for disorders           About GeneDecksing


    Export disorders for SWSAP1 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 SWSAP1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SWSAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. hSWS1.SWSAP1 is an evolutionarily conserved complex required for efficient homologous recombination repair. (PubMed id 21965664)1, 2, 3 Liu T.... Huang J. (2011)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Interactome mapping suggests new mechanistic details u nderlying Alzheimer's disease. (PubMed id 21163940)1 Soler-Lopez M....Aloy P. (2011)
    4. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
    5. 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)
    6. 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: 126074 HGNC: 26638 AceView: FLJ35119 Ensembl:ENSG00000173928 euGenes: HUgn126074
    ECgene: SWSAP1 H-InvDB: SWSAP1

    (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 SWSAP1 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 SWSAP1 gene:
    Search GeneIP for patents involving SWSAP1

    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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