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] See more...

Aliases for THAP11 Gene

Aliases for THAP11 Gene

  • THAP Domain Containing 11 2 3 5
  • THAP Domain-Containing Protein 11 3 4
  • HRIHFB2206 2 3
  • CTG-B43a 2 3
  • CTG-B45d 2 3
  • RONIN 2 3
  • THAP11 5

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. Diseases associated with THAP11 include Disorders Of Intracellular Cobalamin Metabolism and Methylmalonic Acidemia And Homocysteinemia, Cblx Type. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot Summary 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).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for THAP11 Gene

Genomics for THAP11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for THAP11 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 THAP11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for THAP11

Top Transcription factor binding sites by QIAGEN in the THAP11 gene promoter:
  • ATF-2
  • CRE-BP1
  • Egr-4
  • GATA-2
  • MyoD
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for THAP11 Gene

Latest Assembly
chr16:67,842,320-67,844,195
(GRCh38/hg38)
Size:
1,876 bases
Orientation:
Plus strand

Previous Assembly
chr16:67,876,223-67,878,098
(GRCh37/hg19 by Entrez Gene)
Size:
1,876 bases
Orientation:
Plus strand

chr16:67,876,213-67,878,097
(GRCh37/hg19 by Ensembl)
Size:
1,885 bases
Orientation:
Plus strand

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 Lys28 and Lys38
  • Modification sites at PhosphoSitePlus

Other Protein References for THAP11 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for THAP11

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for THAP11 Gene

GenScript: Design optimal peptide antigens:
  • THAP domain containing 11 (B5APZ3_HUMAN)
  • THAP domain-containing protein 11 (THA11_HUMAN)

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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 19008924
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA,IDA 23306615
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:
Targeted motifs for THAP11 Gene
HOMER Transcription Factor Regulatory Elements motif THAP11
  • Consensus sequence: RACTACAACTCCCAGVAKGC Submotif: canonical Cell Type: ES GEO ID: GSE51522

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THAP11

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
nucleus 5
cytosol 5
extracellular 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for THAP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IBA,IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with THAP11: view

Pathways & Interactions for THAP11 Gene

PathCards logo

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:0006357 regulation of transcription by RNA polymerase II IBA 21873635
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 :
9 NCBI additional mRNA sequence :
1 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 THAP11

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

No ASD Table

Relevant External Links for THAP11 Gene

GeneLoc Exon Structure for
THAP11

Expression for THAP11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for THAP11 Gene



Protein tissue co-expression partners for THAP11 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for THAP11

SOURCE GeneReport for Unigene cluster for THAP11 Gene:

Hs.632200

Evidence on tissue expression from TISSUES for THAP11 Gene

  • Nervous system(4.6)
  • Lung(2.4)
  • Intestine(2)
genes like me logo Genes that share expression patterns with THAP11: view

Primer products for research

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 30 31
  • 98.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Thap11 30
  • 89.18 (n)
Cow
(Bos Taurus)
Mammalia THAP11 30 31
  • 88.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia THAP11 30 31
  • 88.71 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Thap11 30 17 31
  • 88.2 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia THAP11 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia THAP11 31
  • 78 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia THAP11 31
  • 67 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii thap11 30 31
  • 72.36 (n)
OneToOne
wufa14e04 30
Species where no ortholog for THAP11 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)
  • 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 THAP11 Gene

ENSEMBL:
Gene Tree for THAP11 (if available)
TreeFam:
Gene Tree for THAP11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for THAP11: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for THAP11 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs188675529 Likely Pathogenic: Mental retardation 3, X-linked 67,842,794(+) C/G
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)
MISSENSE_VARIANT,INTRON
rs377516180 Benign: not provided 67,842,920(+) ACAG/A
NM_020457.3(THAP11):c.367_369CAG[9] (p.Gln132del)
INFRAME_DELETION,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for THAP11 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 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

SNP Genotyping and Copy Number Assays for research

Disorders for THAP11 Gene

MalaCards: The human disease database

(2) MalaCards diseases for THAP11 Gene - From: CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
disorders of intracellular cobalamin metabolism
methylmalonic acidemia and homocysteinemia, cblx type
  • mental retardation, x-linked 3; mrx3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for THAP11

genes like me logo Genes that share disorders with THAP11: view

No data available for 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
  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
  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
  4. Selection system for genes encoding nuclear-targeted proteins. (PMID: 9853615) Ueki N … Muramatsu M (Nature biotechnology 1998) 3 4
  5. Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. (PMID: 8325628) Li SH … Ross CA (Genomics 1993) 2 3

Products for THAP11 Gene

Sources for THAP11 Gene