TRIP13

TRIP13 is a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. TRIP13 interacts specifically with the ligand binding domain. TRIP13 is one of several that may function in early-stage non-small cell lung cancer.

Full Name

thyroid hormone receptor interactor 13

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).

Biological Process

Biological Process double-strand break repair Source:UniProtKB
Biological Process female meiosis I Source:Ensembl
Biological Process male meiosis I Source:Ensembl
Biological Process meiotic recombination checkpoint signaling Source:GO_Central1 Publication
Biological Process mitotic spindle assembly checkpoint signaling Source:UniProtKB1 Publication
Biological Process oocyte maturation Source:Ensembl
Biological Process oogenesis Source:UniProtKB
Biological Process reciprocal meiotic recombination Source:UniProtKB
Biological Process spermatid development Source:Ensembl
Biological Process spermatogenesis Source:UniProtKB
Biological Process synaptonemal complex assembly Source:UniProtKB
Biological Process transcription by RNA polymerase II Source:ProtInc1 Publication

Cellular Location

chromosome
male germ cell nucleus
nucleus

Involvement in disease

Mosaic variegated aneuploidy syndrome 3 (MVA3):
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.
Oocyte maturation defect 9 (OOMD9):
An autosomal recessive infertility disorder due to oocyte meiotic arrest at metaphase I. Abnormal zygotic cleavage has been observed in some patients.