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

THAP3 Gene

protein-coding   GIFtS: 48
GCID: GC01P006684

THAP Domain Containing, Apoptosis Associated Protein 3

  Search for THAP3
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
THAP Domain Containing, Apoptosis Associated Protein 31 2
THAP Domain-Containing Protein 32

External Ids:    HGNC: 208551   Entrez Gene: 903262   Ensembl: ENSG000000419887   OMIM: 6125325   UniProtKB: Q8WTV13   

Export aliases for THAP3 gene to outside databases

Previous GC identifers: GC00U909480 GC01P006620 GC01P006609 GC01P005832


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

GeneCards Summary for THAP3 Gene: 
THAP3 (THAP domain containing, apoptosis associated protein 3) is a protein-coding gene. GO annotations related to this gene include DNA binding and metal ion binding. An important paralog of this gene is THAP1.

UniProtKB/Swiss-Prot: THAP3_HUMAN, Q8WTV1
Function: Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional
activity of RRM1




(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_000001.10  NT_021937.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the THAP3 gene promoter:
         Spz1   AML1a   MIF-1   Ik-3   E47   GATA-1   C/EBPalpha   CHOP-10   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTHAP3 promoter sequence
   Search SABiosciences Chromatin IP Primers for THAP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat THAP3


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

Entrez Gene cytogenetic band: 1p36.31   Ensembl cytogenetic band:  1p36.31   HGNC cytogenetic band: 1p36.1

THAP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
THAP3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P006684:  view genomic region     (about GC identifiers)

Start:
6,684,925 bp from pter      End:
6,695,646 bp from pter
Size:
10,722 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: THAP3_HUMAN, Q8WTV1 (See protein sequence)
Recommended Name: THAP domain-containing protein 3  
Size: 239 amino acids; 27059 Da
Subunit: Component of a THAP1/THAP3-HCFC1-OGT complex that contains at least, either THAP1 or THAP3, HCFC1 and
OGT. Interacts directly with OGT and HCFC1 (via its HBM)
Secondary accessions: Q569K1 Q5TH66 Q5TH67 Q8N8T6 Q9BSC7 Q9Y3H2 Q9Y3H3
Alternative splicing: 3 isoforms:  Q8WTV1-1   Q8WTV1-3   Q8WTV1-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for THAP3: NX_Q8WTV1

Explore proteomics data for THAP3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WTV1

  • THAP3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    THAP3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001182681.1  NP_001182682.1  NP_612359.2  

    ENSEMBL proteins: 
     ENSP00000054650   ENSP00000311537   ENSP00000366854   ENSP00000464954   ENSP00000473646  

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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: 
    THAP: THAP (C2CH-type zinc finger) domain containing

    2 InterPro protein domains:
     IPR006612 Znf_C2CH
     IPR026520 THAP3

    Graphical View of Domain Structure for InterPro Entry Q8WTV1

    ProtoNet protein and cluster: Q8WTV1

    UniProtKB/Swiss-Prot: THAP3_HUMAN, Q8WTV1
    Similarity: Contains 1 THAP-type zinc finger


    THAP3 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: THAP3_HUMAN, Q8WTV1
    Function: Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional
    activity of RRM1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI--
    GO:0046872metal ion binding IEA--
         
    THAP3 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for THAP3:
     Decreased p24 protein expressi  Increased S DNA content  Increased cell number in G2M,  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for THAP3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for THAP3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for THAP3 
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    hsa-miR-4254 hsa-miR-3200-5p hsa-miR-4251 hsa-miR-146a hsa-miR-340 hsa-miR-548a-3p hsa-miR-124 hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmidTHAP3 3' UTR sequence
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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 THAP3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for THAP3 (Q8WTV13 ENSP000003668544) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HCFC1P516103, ENSP000003095554I2D: score=1 STRING: ENSP00000309555
    OGTO152943, ENSP000003628244I2D: score=1 STRING: ENSP00000362824
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 THAP3

    Search CenterWatch for drugs/clinical trials and news about THAP3

    (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 THAP3 gene (3 alternative transcripts): 
    NM_001195752.1  NM_001195753.1  NM_138350.3  

    Unigene Cluster for THAP3:

    THAP domain containing, apoptosis associated protein 3
    Hs.689006  [show with all ESTs]
    Unigene Representative Sequence: NM_138350
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000054650(uc001aoc.3 uc001aod.3) ENST00000484676 ENST00000307896
    ENST00000377627(uc001aoe.2) ENST00000484669 ENST00000487819 ENST00000472925
    ENST00000480647
    miRNA
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    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate THAP3 (see all 19):
    hsa-miR-4254 hsa-miR-3200-5p hsa-miR-4251 hsa-miR-146a hsa-miR-340 hsa-miR-548a-3p hsa-miR-124 hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmidTHAP3 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat THAP3

    Additional mRNA sequence: 

    AF086370.1 AK096217.1 BC005114.1 BC022081.2 BC092427.1 

    18 DOTS entries:

    DT.447625  DT.99985402  DT.100653629  DT.445231  DT.100795639  DT.95322862  DT.100758642  DT.91748007 
    DT.100795637  DT.92051561  DT.95322859  DT.100795640  DT.121331028  DT.75102383  DT.102832603  DT.121331071 
    DT.40301323  DT.95322890 

    24/125 AceView cDNA sequences (see all 125):

    CR600561 AW296100 CA425222 BU684782 BU857326 CR609298 BU190263 BX088984 
    BQ065768 BF448596 AI365345 AI967965 BQ056118 BE220041 Z41901 CR601567 
    AI984347 AA235985 BQ023670 BE672540 CR620139 BM691509 AW590484 BQ681499 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for THAP3    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7
    SP1:        -     -                       -                     
    SP2:        -     -                                   -         
    SP3:        -     -                       -                     
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for THAP3

    (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

    THAP3 expression in normal human tissues (normalized intensities)      THAP3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAGGGGGCT
    THAP3 Expression
    About this image


    THAP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Limb (Muscoskeletal System)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Mesoderm (Gastrulation Derivatives)
             Limb Bud Mesenchyme Cells Limb Bud

    See THAP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for THAP3

    SOURCE GeneReport for Unigene cluster: Hs.689006

    UniProtKB/Swiss-Prot: THAP3_HUMAN, Q8WTV1
    Tissue specificity: Highly expressed in heart, skeletal muscle and placenta. Weaker expression in brain, kidney
    and liver

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THAP3

    (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 THAP3 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Thap31 , 5 THAP domain containing, apoptosis associated protein more1, 5 80.54(n)1
    78.95(a)1
      4 (82.80 cM)5
    698761  NM_175152.41  NP_780361.21 
     1519826395 
    zebrafish
    (Danio rerio)
    Actinopterygii thap31 THAP domain containing, apoptosis associated protein more 50(n)
    46.87(a)
      541481  NM_001014294.1  NP_001014316.1 


    ENSEMBL Gene Tree for THAP3 (if available)
    TreeFam Gene Tree for THAP3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for THAP3 gene
    THAP12  ENSG000002580642  THAP22  THAP52  THAP82  
    3 SIMAP similar genes for THAP3 using alignment to 3 protein entries:     THAP3_HUMAN (see all proteins):
    THAP1    THAP9    THAP6

    THAP3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for THAP3
    PGOHUM00000244826


    (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

    10/202 SNPs in THAP3 are shown (see all 202)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1890852211,2
    --6684760(+) TGCCTC/TTTCAC 3 -- us2k10--------
    rs20763631,2
    C,F,A,H--6684906(-) CCTCAG/CTGTTT 3 -- us2k117Minor allele frequency- C:0.29NS EA NA WA CSA 1145
    rs1123669511,2
    C,F--6684923(+) CCGTTG/AGTTTC 3 -- us2k12Minor allele frequency- A:0.04CSA WA 119
    rs2016308581,2
    C--6685050(+) TGGGG-/TTTTCG 3 -- us2k1 int10--------
    rs1430849751,2
    --6685416(+) CCGAGC/GCCTTG 3 -- int10--------
    rs127465911,2
    C,F,A--6685442(+) GGCCCG/AAAGGC 3 -- int15Minor allele frequency- A:0.37NA WA EA 128
    rs127241671,2
    F,H--6685595(+) GCGGAA/G/TCAGGT 3 -- int14NS EA 416
    rs1398325211,2
    --6685596(+) CGGAGA/CAGGTG 3 -- int10--------
    rs121271911,2
    C,F,A--6685774(+) GAGGAC/TGCTGG 3 -- int18Minor allele frequency- T:0.38NA WA CSA EA 367
    rs1998053521,2
    C--6685825(-) TGGGCC/TGNNNN 3 -- int10--------

    HapMap Linkage Disequilibrium report for THAP3 (6684925 - 6695646 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for THAP3:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv129n71CNV Loss21882294
    dgv130n71CNV Loss21882294
    nsv826253CNV Gain20364138
    nsv871348CNV Gain21882294

    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

    THAP3 for disorders           About MalaCards
    OMIM gene information: 612532    OMIM disorders: --


    THAP3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): THAP3
    Human Genome Epidemiology (HuGE) Navigator: THAP3 (1 document)

    Export disorders for THAP3 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 THAP3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with THAP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The THAP-zinc finger protein THAP1 associates with co activator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonia s. (PubMed id 20200153)1, 2 Mazars R....Girard J.P. (2010)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase. (PubMed id 12575992)1, 3 Roussigne M....Girard J.P. (2003)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Genetic associations of variants in genes encoding HI V-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (2010)
    9. 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)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 90326 HGNC: 20855 AceView: MGC33488 Ensembl:ENSG00000041988 euGenes: HUgn90326
    ECgene: THAP3 H-InvDB: THAP3

    (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 THAP3 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 THAP3 gene:
    Search GeneIP for patents involving THAP3

    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
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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