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Aliases for THAP11 Gene

Aliases for THAP11 Gene

  • THAP Domain Containing 11 2 3 5
  • THAP Domain-Containing Protein 11 3
  • HRIHFB2206 3
  • CTG-B43a 3
  • CTG-B45d 3
  • RONIN 3

External Ids for THAP11 Gene

Previous GeneCards Identifiers for THAP11 Gene

  • GC16U900023
  • GC16P067652
  • GC16P066433
  • GC16P067876
  • GC16P053749

Summaries for THAP11 Gene

Entrez Gene Summary for THAP11 Gene

  • The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008]

GeneCards Summary for THAP11 Gene

THAP11 (THAP Domain Containing 11) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot for THAP11 Gene

  • Transcriptional repressor that plays a central role for embryogenesis and the pluripotency of embryonic stem (ES) cells. Sequence-specific DNA-binding factor that represses gene expression in pluripotent ES cells by directly binding to key genetic loci and recruiting epigenetic modifiers (By similarity).

Additional gene information for THAP11 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THAP11 Gene

Genomics for THAP11 Gene

GeneHancer (GH) Regulatory Elements for THAP11 Gene

Promoters and enhancers for THAP11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I067841 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 568.9 +2.9 2907 7.5 ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 THAP11 NUTF2 ZDHHC1 ENKD1 NAE1 EDC4 RANBP10 ZFP90 CTCF ENSG00000262514
GH16I068077 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.9 +243.6 243599 16 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC NFATC3 GC16M068083 PRMT7 CTCF EDC4 TRADD ZDHHC1 DPEP2 DUS2 E2F4
GH16I067560 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -278.9 -278907 5.8 HDGF SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CTCF ENSG00000261386 ENSG00000259804 GC16M067560 ZFP90 NFATC3 ATP6V0D1 EDC4 ZDHHC1 ENSG00000262514
GH16I067555 Enhancer 1.3 Ensembl ENCODE dbSUPER 18.6 -285.8 -285774 2 ZNF493 ZFP64 ZNF121 ZNF213 KLF7 FOS ZNF202 ZC3H11A REST ZNF623 ZDHHC1 EDC4 ENSG00000260465 CENPT CTCF NAE1 E2F4 ENKD1 ENSG00000263276 ENSG00000270165
GH16I067832 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 10.4 -8.7 -8671 2.2 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CENPT PIR37129 EDC4 ENSG00000262514 ENSG00000263276 DUS2 NFATC3 RANBP10 CTCF THAP11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around THAP11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the THAP11 gene promoter:

Genomic Locations for THAP11 Gene

Genomic Locations for THAP11 Gene
chr16:67,842,082-67,844,195
(GRCh38/hg38)
Size:
2,114 bases
Orientation:
Plus strand
chr16:67,876,213-67,878,098
(GRCh37/hg19)

Genomic View for THAP11 Gene

Genes around THAP11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THAP11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THAP11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THAP11 Gene

Proteins for THAP11 Gene

  • Protein details for THAP11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EK4-THA11_HUMAN
    Recommended name:
    THAP domain-containing protein 11
    Protein Accession:
    Q96EK4
    Secondary Accessions:
    • A4UCT5
    • A8K002
    • O94795

    Protein attributes for THAP11 Gene

    Size:
    314 amino acids
    Molecular mass:
    34455 Da
    Quaternary structure:
    • Interacts (via coiled coil domain) with HCFC1.

    Three dimensional structures from OCA and Proteopedia for THAP11 Gene

neXtProt entry for THAP11 Gene

Post-translational modifications for THAP11 Gene

  • Ubiquitination at isoforms=28 and isoforms=38
  • Modification sites at PhosphoSitePlus

Other Protein References for THAP11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for THAP11 Gene

Domains & Families for THAP11 Gene

Gene Families for THAP11 Gene

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

Protein Domains for THAP11 Gene

Suggested Antigen Peptide Sequences for THAP11 Gene

Graphical View of Domain Structure for InterPro Entry

Q96EK4

UniProtKB/Swiss-Prot:

THA11_HUMAN :
  • Belongs to the THAP11 family.
Family:
  • Belongs to the THAP11 family.
genes like me logo Genes that share domains with THAP11: view

Function for THAP11 Gene

Molecular function for THAP11 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor that plays a central role for embryogenesis and the pluripotency of embryonic stem (ES) cells. Sequence-specific DNA-binding factor that represses gene expression in pluripotent ES cells by directly binding to key genetic loci and recruiting epigenetic modifiers (By similarity).

Phenotypes From GWAS Catalog for THAP11 Gene

Gene Ontology (GO) - Molecular Function for THAP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 19008924
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 19008924
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA,IDA 23306615
GO:0005515 protein binding IPI 18585351
genes like me logo Genes that share ontologies with THAP11: view
genes like me logo Genes that share phenotypes with THAP11: view

Animal Models for THAP11 Gene

MGI Knock Outs for THAP11:

Animal Model Products

Targeted motifs for THAP11 Gene
HOMER Transcription Factor Regulatory Elements motif THAP11
  • Consensus sequence: RACTACAACTCCCAGVAKGC Submotif: canonical Cell Type: ES GEO ID: GSE51522

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA and Transcription Factor Targets for THAP11 Gene

Localization for THAP11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for THAP11 Gene

Nucleus. Cytoplasm. Note=May be regulated by shuttling of the protein between the cytoplasm and nucleus. {ECO:0000250}.

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 THAP11 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for THAP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0045171 intercellular bridge IDA --
genes like me logo Genes that share ontologies with THAP11: view

Pathways & Interactions for THAP11 Gene

SuperPathways for THAP11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for THAP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 19008924
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with THAP11: view

No data available for Pathways by source and SIGNOR curated interactions for THAP11 Gene

Drugs & Compounds for THAP11 Gene

No Compound Related Data Available

Transcripts for THAP11 Gene

mRNA/cDNA for THAP11 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(146) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for THAP11 Gene

THAP domain containing 11:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for THAP11 Gene

No ASD Table

Relevant External Links for THAP11 Gene

GeneLoc Exon Structure for
THAP11
ECgene alternative splicing isoforms for
THAP11

Expression for THAP11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for THAP11 Gene

Protein differential expression in normal tissues from HIPED for THAP11 Gene

This gene is overexpressed in Lung (49.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for THAP11 Gene



Protein tissue co-expression partners for THAP11 Gene

NURSA nuclear receptor signaling pathways regulating expression of THAP11 Gene:

THAP11

SOURCE GeneReport for Unigene cluster for THAP11 Gene:

Hs.632200

Evidence on tissue expression from TISSUES for THAP11 Gene

  • Nervous system(4.5)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with THAP11: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for THAP11 Gene

Orthologs for THAP11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for THAP11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THAP11 33 34
  • 98.82 (n)
rat
(Rattus norvegicus)
Mammalia Thap11 33
  • 89.18 (n)
cow
(Bos Taurus)
Mammalia THAP11 33 34
  • 88.78 (n)
dog
(Canis familiaris)
Mammalia THAP11 34 33
  • 88.71 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Thap11 33 16 34
  • 88.2 (n)
oppossum
(Monodelphis domestica)
Mammalia THAP11 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia THAP11 34
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THAP11 34
  • 67 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii thap11 33 34
  • 72.36 (n)
wufa14e04 33
Species where no ortholog for THAP11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 squirt (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 THAP11 Gene

ENSEMBL:
Gene Tree for THAP11 (if available)
TreeFam:
Gene Tree for THAP11 (if available)

Paralogs for THAP11 Gene

No data available for Paralogs for THAP11 Gene

Variants for THAP11 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for THAP11 Gene

THA11_HUMAN-Q96EK4
The length of the poly-Gln region is variable in the population.

Sequence variations from dbSNP and Humsavar for THAP11 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs188675529 likely-pathogenic, Mental retardation 3, X-linked 67,842,794(+) C/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs1000978795 -- 67,842,871(+) A/G coding_sequence_variant, missense_variant
rs1001019773 -- 67,842,406(+) G/A 5_prime_UTR_variant
rs1002196565 -- 67,843,147(+) C/T coding_sequence_variant, missense_variant
rs1002994345 -- 67,840,621(+) G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for THAP11 Gene

Variant ID Type Subtype PubMed ID
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680

Variation tolerance for THAP11 Gene

Residual Variation Intolerance Score: 26.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THAP11 Gene

Human Gene Mutation Database (HGMD)
THAP11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
THAP11

Disorders for THAP11 Gene

Additional Disease Information for THAP11

No disorders were found for THAP11 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for THAP11 Gene

Publications for THAP11 Gene

  1. NMR studies of a new family of DNA binding proteins: the THAP proteins. (PMID: 23306615) Gervais V … Milon A (Journal of biomolecular NMR 2013) 3 4 58
  2. 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 58
  3. 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 58
  4. Selection system for genes encoding nuclear-targeted proteins. (PMID: 9853615) Ueki N … Muramatsu M (Nature biotechnology 1998) 3 4 58
  5. Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. (PMID: 8325628) Li SH … Ross CA (Genomics 1993) 2 3 58

Products for THAP11 Gene

Sources for THAP11 Gene

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