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Aliases for TRIP13 Gene

Aliases for TRIP13 Gene

  • Thyroid Hormone Receptor Interactor 13 2 3 4 5
  • Human Papillomavirus Type 16 E1 Protein-Binding Protein 3 4
  • Thyroid Receptor-Interacting Protein 13 3 4
  • TR-Interacting Protein 13 3 4
  • 16E1-BP 3 4
  • TRIP-13 3 4
  • Thyroid Receptor Interacting Protein 13 2
  • Pachytene Checkpoint Protein 2 Homolog 3
  • HPV16 E1 Protein Binding Protein 3
  • HPV16 E1 Protein-Binding Protein 4
  • SH3TC1/TRIP13 Fusion 3
  • 16E1BP 3
  • MVA3 3
  • PCH2 4

External Ids for TRIP13 Gene

Previous GeneCards Identifiers for TRIP13 Gene

  • GC05P001105
  • GC05P000973
  • GC05P000945
  • GC05P000946

Summaries for TRIP13 Gene

Entrez Gene Summary for TRIP13 Gene

  • This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]

GeneCards Summary for TRIP13 Gene

TRIP13 (Thyroid Hormone Receptor Interactor 13) is a Protein Coding gene. Diseases associated with TRIP13 include Mosaic Variegated Aneuploidy Syndrome 3 and Mosaic Variegated Aneuploidy Syndrome. Gene Ontology (GO) annotations related to this gene include identical protein binding and transcription cofactor activity.

UniProtKB/Swiss-Prot for TRIP13 Gene

  • Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for sex body formation. Promotes early steps of the DNA double-strand breaks (DSBs) repair process upstream of the assembly of RAD51 complexes. Required for depletion of HORMAD1 and HORMAD2 from synapsed chromosomes (By similarity). Plays a role in mitotic spindle assembly checkpoint (SAC) activation (PubMed:28553959).

Gene Wiki entry for TRIP13 Gene

Additional gene information for TRIP13 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRIP13 Gene

Genomics for TRIP13 Gene

GeneHancer (GH) Regulatory Elements for TRIP13 Gene

Promoters and enhancers for TRIP13 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
GH05I000890 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.3 -329 4.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 POLR2B ZNF207 ZNF143 BRD9 TRIP13 LOC100132773 EXOC3 SLC9A3-AS1 SLC9A3 GC05P000886
GH05I001180 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10 +291.3 291289 6.5 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B YBX1 YY1 ZNF766 CTD-3080P12.3 SLC6A19 BRD9 SLC6A18 SLC6A3 TRIP13
GH05I000656 Enhancer 1.1 ENCODE dbSUPER 11.3 -235.0 -234985 1.9 ATF1 RB1 ARNT BATF ZBTB40 TCF12 GATA2 EGR1 FOS CREM CEP72 ENSG00000271781 TRIP13 BRD9 BRD9P2 ZDHHC11B ENSG00000250173 SLC9A3 PIR37264 GC05P000643
GH05I001151 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 10.2 +260.5 260469 2.6 PKNOX1 NFIB ZSCAN4 NEUROD1 BMI1 ZBTB7B THRB ZNF207 EGR2 MCM3 LOC100421419 BRD9 LOC100132773 CTD-3080P12.3 SLC6A19 ENSG00000250173 SLC6A18 TERT TRIP13 SLC6A3
GH05I000849 Enhancer 0.8 Ensembl ENCODE 11.1 -42.6 -42648 0.8 RFX1 HCFC1 SAP130 SP5 NRF1 ARID4B SIN3A DMAP1 RARA GABPA BRD9 TRIP13 ZDHHC11B BRD9P2 ENSG00000250173 SLC9A3-AS1 ZDHHC11 PIR31254
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TRIP13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TRIP13 gene promoter:

Genomic Locations for TRIP13 Gene

Genomic Locations for TRIP13 Gene
chr5:892,643-919,357
(GRCh38/hg38)
Size:
26,715 bases
Orientation:
Plus strand
chr5:892,758-919,472
(GRCh37/hg19)

Genomic View for TRIP13 Gene

Genes around TRIP13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRIP13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRIP13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRIP13 Gene

Proteins for TRIP13 Gene

  • Protein details for TRIP13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15645-PCH2_HUMAN
    Recommended name:
    Pachytene checkpoint protein 2 homolog
    Protein Accession:
    Q15645
    Secondary Accessions:
    • C9K0T3
    • D3DTC0
    • O15324

    Protein attributes for TRIP13 Gene

    Size:
    432 amino acids
    Molecular mass:
    48551 Da
    Quaternary structure:
    • Specifically interacts with the ligand binding domain of the thyroid receptor (TR). This interaction does not require the presence of thyroid hormone for its interaction. Interacts with HPV16 E1.
    SequenceCaution:
    • Sequence=AAC41732.1; Type=Frameshift; Positions=1, 5; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TRIP13 Gene

    Alternative splice isoforms for TRIP13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRIP13 Gene

Post-translational modifications for TRIP13 Gene

  • Ubiquitination at isoforms=185, isoforms=227, isoforms=288, and isoforms=316
  • Modification sites at PhosphoSitePlus

Other Protein References for TRIP13 Gene

No data available for DME Specific Peptides for TRIP13 Gene

Domains & Families for TRIP13 Gene

Gene Families for TRIP13 Gene

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

Protein Domains for TRIP13 Gene

Suggested Antigen Peptide Sequences for TRIP13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15645

UniProtKB/Swiss-Prot:

PCH2_HUMAN :
  • Belongs to the AAA ATPase family. PCH2 subfamily.
Family:
  • Belongs to the AAA ATPase family. PCH2 subfamily.
genes like me logo Genes that share domains with TRIP13: view

Function for TRIP13 Gene

Molecular function for TRIP13 Gene

UniProtKB/Swiss-Prot Function:
Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for sex body formation. Promotes early steps of the DNA double-strand breaks (DSBs) repair process upstream of the assembly of RAD51 complexes. Required for depletion of HORMAD1 and HORMAD2 from synapsed chromosomes (By similarity). Plays a role in mitotic spindle assembly checkpoint (SAC) activation (PubMed:28553959).

Gene Ontology (GO) - Molecular Function for TRIP13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003712 transcription cofactor activity TAS 7776974
GO:0005515 protein binding IPI 16169070
GO:0005524 ATP binding NAS,IEA 9223484
GO:0042802 identical protein binding IPI,IEA 16169070
genes like me logo Genes that share ontologies with TRIP13: view
genes like me logo Genes that share phenotypes with TRIP13: view

Human Phenotype Ontology for TRIP13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRIP13 Gene

MGI Knock Outs for TRIP13:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for TRIP13 Gene

Localization for TRIP13 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 TRIP13 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TRIP13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001673 male germ cell nucleus IEA --
GO:0005634 nucleus TAS 7776974
genes like me logo Genes that share ontologies with TRIP13: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TRIP13 Gene

Pathways & Interactions for TRIP13 Gene

SuperPathways for TRIP13 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TRIP13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001556 oocyte maturation IEA --
GO:0006302 double-strand break repair ISS,IEA --
GO:0006366 transcription by RNA polymerase II TAS 7776974
GO:0007094 mitotic spindle assembly checkpoint IMP 28553959
GO:0007130 synaptonemal complex assembly IEA,ISS --
genes like me logo Genes that share ontologies with TRIP13: view

No data available for Pathways by source and SIGNOR curated interactions for TRIP13 Gene

Drugs & Compounds for TRIP13 Gene

No Compound Related Data Available

Transcripts for TRIP13 Gene

Unigene Clusters for TRIP13 Gene

Thyroid hormone receptor interactor 13:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRIP13 Gene

No ASD Table

Relevant External Links for TRIP13 Gene

GeneLoc Exon Structure for
TRIP13
ECgene alternative splicing isoforms for
TRIP13

Expression for TRIP13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TRIP13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRIP13 Gene

This gene is overexpressed in Testis (x12.3).

Protein differential expression in normal tissues from HIPED for TRIP13 Gene

This gene is overexpressed in Bone (28.6), Testis (11.6), and Ovary (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TRIP13 Gene



NURSA nuclear receptor signaling pathways regulating expression of TRIP13 Gene:

TRIP13

SOURCE GeneReport for Unigene cluster for TRIP13 Gene:

Hs.436187

Evidence on tissue expression from TISSUES for TRIP13 Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with TRIP13: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRIP13 Gene

Orthologs for TRIP13 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TRIP13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRIP13 33 34
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia TRIP13 34 33
  • 89.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TRIP13 33 34
  • 88.66 (n)
mouse
(Mus musculus)
Mammalia Trip13 16 34 33
  • 87.58 (n)
rat
(Rattus norvegicus)
Mammalia Trip13 33
  • 87.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRIP13 34
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRIP13 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRIP13 33 34
  • 74.9 (n)
lizard
(Anolis carolinensis)
Reptilia TRIP13 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trip13 33
  • 70.14 (n)
MGC76197 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7727 33
zebrafish
(Danio rerio)
Actinopterygii trip13 33 34
  • 67.33 (n)
zgc65952 33
fruit fly
(Drosophila melanogaster)
Insecta pch2 33 34
  • 53.16 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001522 33
  • 49.83 (n)
worm
(Caenorhabditis elegans)
Secernentea F10B5.5 35
  • 43 (a)
pch-2 34
  • 37 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL258W 33
  • 49.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCH2 33 34 36
  • 48.45 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24710 33
  • 54.05 (n)
rice
(Oryza sativa)
Liliopsida Os04g0479000 33
  • 55.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5804 33
Species where no ortholog for TRIP13 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRIP13 Gene

ENSEMBL:
Gene Tree for TRIP13 (if available)
TreeFam:
Gene Tree for TRIP13 (if available)

Paralogs for TRIP13 Gene

Pseudogenes.org Pseudogenes for TRIP13 Gene

genes like me logo Genes that share paralogs with TRIP13: view

No data available for Paralogs for TRIP13 Gene

Variants for TRIP13 Gene

Sequence variations from dbSNP and Humsavar for TRIP13 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs376882637 pathogenic, Mosaic variegated aneuploidy syndrome 3 914,504(+) C/A/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, stop_gained, synonymous_variant
rs1000052388 -- 917,823(+) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000080687 -- 902,459(+) C/T intron_variant
rs1000099469 -- 892,611(+) T/C upstream_transcript_variant
rs1000122459 -- 916,546(+) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TRIP13 Gene

Variant ID Type Subtype PubMed ID
dgv198e55 CNV gain 17911159
esv1609077 CNV deletion 17803354
esv27211 CNV gain+loss 19812545
esv2729366 CNV deletion 23290073
esv2729367 CNV deletion 23290073
esv2729368 CNV deletion 23290073
esv2729369 CNV deletion 23290073
esv2729370 CNV deletion 23290073
esv2759316 CNV gain+loss 17122850
esv3569906 CNV loss 25503493
esv3569907 CNV loss 25503493
esv987824 CNV gain 20482838
nsv10654 CNV gain+loss 18304495
nsv1133013 OTHER inversion 24896259
nsv1147234 OTHER inversion 26484159
nsv428459 CNV gain+loss 18775914
nsv509043 CNV insertion 20534489
nsv596629 CNV gain 21841781
nsv821226 CNV deletion 20802225
nsv830186 CNV gain 17160897

Variation tolerance for TRIP13 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRIP13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRIP13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRIP13 Gene

Disorders for TRIP13 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TRIP13 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mosaic variegated aneuploidy syndrome 3
  • mva3
mosaic variegated aneuploidy syndrome
  • mva syndrome
wilms tumor 1
  • wt1
dyskinetic cerebral palsy
  • athetoid dyskinetic cerebral palsy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PCH2_HUMAN
  • Mosaic variegated aneuploidy syndrome 3 (MVA3) [MIM:617598]: A form of mosaic variegated aneuploidy syndrome, a severe disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. MVA3 inheritance is autosomal recessive. {ECO:0000269 PubMed:28553959}. Note=The disease is caused by mutations affecting the gene represented in this entry. MVA3 is caused by biallelic mutations in the TRIP13 gene.

Additional Disease Information for TRIP13

genes like me logo Genes that share disorders with TRIP13: view

No data available for Genatlas for TRIP13 Gene

Publications for TRIP13 Gene

  1. Two classes of proteins dependent on either the presence or absence of thyroid hormone for interaction with the thyroid hormone receptor. (PMID: 7776974) Lee JW … Moore DD (Molecular endocrinology (Baltimore, Md.) 1995) 2 3 4 58
  2. Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. (PMID: 28553959) Yost S … Rahman N (Nature genetics 2017) 3 4 58
  3. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J … Comb MJ (Nature biotechnology 2005) 3 4 58
  4. 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
  5. Two classes of human papillomavirus type 16 E1 mutants suggest pleiotropic conformational constraints affecting E1 multimerization, E2 interaction, and interaction with cellular proteins. (PMID: 9223484) Yasugi T … Benson JD (Journal of virology 1997) 3 4 58

Products for TRIP13 Gene

Sources for TRIP13 Gene

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