Aliases for THAP3 Gene

Aliases for THAP3 Gene

  • THAP Domain Containing 3 2 3 5
  • THAP Domain Containing, Apoptosis Associated Protein 3 2 3
  • THAP Domain-Containing Protein 3 3 4
  • THAP3 5

External Ids for THAP3 Gene

Previous GeneCards Identifiers for THAP3 Gene

  • GC00U909480
  • GC01P006620
  • GC01P006609
  • GC01P006684
  • GC01P005832
  • GC01P006626
  • GC01P006633
  • GC01P006705
  • GC01P006711
  • GC01P006715
  • GC01P006728
  • GC01P006639
  • GC01P006646
  • GC01P006652
  • GC01P006660
  • GC01P006666
  • GC01P006674
  • GC01P006688
  • GC01P006699
  • GC01P006747
  • GC01P006761

Summaries for THAP3 Gene

GeneCards Summary for THAP3 Gene

THAP3 (THAP Domain Containing 3) is a Protein Coding gene. Diseases associated with THAP3 include Dystonia 3, Torsion, X-Linked and Chromosome 1P36 Deletion Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is THAP1.

UniProtKB/Swiss-Prot Summary for THAP3 Gene

  • Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for THAP3 Gene

Genomics for THAP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for THAP3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around THAP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for THAP3

Top Transcription factor binding sites by QIAGEN in the THAP3 gene promoter:
  • AML1a
  • C/EBPalpha
  • CHOP-10
  • E47
  • GATA-1
  • Ik-3
  • MIF-1
  • PPAR-gamma1
  • PPAR-gamma2
  • Spz1

Genomic Locations for THAP3 Gene

Latest Assembly
chr1:6,624,616-6,635,586
(GRCh38/hg38)
Size:
10,971 bases
Orientation:
Plus strand

Previous Assembly
chr1:6,684,928-6,695,646
(GRCh37/hg19 by Entrez Gene)
Size:
10,719 bases
Orientation:
Plus strand

chr1:6,684,926-6,695,646
(GRCh37/hg19 by Ensembl)
Size:
10,721 bases
Orientation:
Plus strand

Genomic View for THAP3 Gene

Genes around THAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THAP3 Gene

Proteins for THAP3 Gene

  • Protein details for THAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WTV1-THAP3_HUMAN
    Recommended name:
    THAP domain-containing protein 3
    Protein Accession:
    Q8WTV1
    Secondary Accessions:
    • Q569K1
    • Q5TH66
    • Q5TH67
    • Q8N8T6
    • Q9BSC7
    • Q9Y3H2
    • Q9Y3H3

    Protein attributes for THAP3 Gene

    Size:
    239 amino acids
    Molecular mass:
    27059 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for THAP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THAP3 Gene

Post-translational modifications for THAP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for THAP3 Gene

Domains & Families for THAP3 Gene

Gene Families for THAP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for THAP3 Gene

Suggested Antigen Peptide Sequences for THAP3 Gene

GenScript: Design optimal peptide antigens:
  • THAP domain-containing protein 3 (THAP3_HUMAN)
genes like me logo Genes that share domains with THAP3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for THAP3 Gene

Function for THAP3 Gene

Molecular function for THAP3 Gene

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

Phenotypes From GWAS Catalog for THAP3 Gene

Gene Ontology (GO) - Molecular Function for THAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 20200153
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with THAP3: view
genes like me logo Genes that share phenotypes with THAP3: view

miRNA for THAP3 Gene

miRTarBase miRNAs that target THAP3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THAP3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for THAP3 Gene

Localization for THAP3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for THAP3 gene
Compartment Confidence
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Mitochondria (1)
  • Nucleoli (1)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for THAP3 Gene

Pathways & Interactions for THAP3 Gene

PathCards logo

SuperPathways for THAP3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for THAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 20200153
genes like me logo Genes that share ontologies with THAP3: view

No data available for Pathways by source and SIGNOR curated interactions for THAP3 Gene

Drugs & Compounds for THAP3 Gene

No Compound Related Data Available

Transcripts for THAP3 Gene

mRNA/cDNA for THAP3 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THAP3

Alternative Splicing Database (ASD) splice patterns (SP) for THAP3 Gene

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

Relevant External Links for THAP3 Gene

GeneLoc Exon Structure for
THAP3

Expression for THAP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for THAP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for THAP3 Gene

This gene is overexpressed in Placenta (66.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for THAP3 Gene



Protein tissue co-expression partners for THAP3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for THAP3

SOURCE GeneReport for Unigene cluster for THAP3 Gene:

Hs.689006

mRNA Expression by UniProt/SwissProt for THAP3 Gene:

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

Evidence on tissue expression from TISSUES for THAP3 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with THAP3: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for THAP3 Gene

Orthologs for THAP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for THAP3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia THAP3 29 30
  • 99.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia THAP3 29 30
  • 82.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia THAP3 29 30
  • 80.97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Thap3 29 16 30
  • 80.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Thap3 29
  • 80.09 (n)
Oppossum
(Monodelphis domestica)
Mammalia THAP3 30
  • 66 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia THAP3 30
  • 59 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii thap3 29 30
  • 50 (n)
OneToOne
Species where no ortholog for THAP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for THAP3 Gene

ENSEMBL:
Gene Tree for THAP3 (if available)
TreeFam:
Gene Tree for THAP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for THAP3: view image
Alliance of Genome Resources:
Additional Orthologs for THAP3

Paralogs for THAP3 Gene

(3) SIMAP similar genes for THAP3 Gene using alignment to 3 proteins:

  • THAP3_HUMAN
  • K7EIZ2_HUMAN
  • R4GNH0_HUMAN

Pseudogenes.org Pseudogenes for THAP3 Gene

genes like me logo Genes that share paralogs with THAP3: view

Variants for THAP3 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for THAP3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for THAP3 Gene

Variant ID Type Subtype PubMed ID
nsv545269 CNV loss 21841781
nsv826253 CNV gain 20364138

Variation tolerance for THAP3 Gene

Residual Variation Intolerance Score: 76.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.46; 43.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THAP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
THAP3
Leiden Open Variation Database (LOVD)
THAP3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for THAP3 Gene

Disorders for THAP3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for THAP3 Gene - From: COP

Disorder Aliases PubMed IDs
dystonia 3, torsion, x-linked
  • dyt3
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
- elite association - COSMIC cancer census association via MalaCards
Search THAP3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for THAP3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with THAP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for THAP3 Gene

Publications for THAP3 Gene

  1. The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias. (PMID: 20200153) Mazars R … Girard JP (The Journal of biological chemistry 2010) 3 4
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase. (PMID: 12575992) Roussigne M … Girard JP (Trends in biochemical sciences 2003) 2 3

Products for THAP3 Gene

Sources for THAP3 Gene