Aliases for PSMC3IP Gene
External Ids for PSMC3IP Gene
Previous GeneCards Identifiers for PSMC3IP Gene
This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011]
GeneCards Summary for PSMC3IP Gene
PSMC3IP (PSMC3 Interacting Protein) is a Protein Coding gene. Diseases associated with PSMC3IP include Ovarian Dysgenesis 3 and 46,Xx Testicular Disorder Of Sex Development. Among its related pathways are Androgen receptor signaling pathway and Cell Cycle, Mitotic. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and ligand-dependent nuclear receptor transcription coactivator activity.
UniProtKB/Swiss-Prot for PSMC3IP Gene
Plays an important role in meiotic recombination. Stimulates DMC1-mediated strand exchange required for pairing homologous chromosomes during meiosis. The complex PSMC3IP/MND1 binds DNA, stimulates the recombinase activity of DMC1 as well as DMC1 D-loop formation from double-strand DNA. This complex stabilizes presynaptic RAD51 and DMC1 filaments formed on single strand DNA to capture double-strand DNA. This complex stimulates both synaptic and presynaptic critical steps in RAD51 and DMC1-promoted homologous pairing. May inhibit HIV-1 viral protein TAT activity and modulate the activity of proteasomes through association with PSMC3. Acts as a tissue specific coactivator of hormone-dependent transcription mediated by nuclear receptors.