PSMC3IP Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PSMC3IP |
| Official Name | PSMC3 interacting protein [Source:HGNC Symbol;Acc:HGNC:17928] |
| Ensembl ID | ENSG00000131470 |
| Bio databases IDs | |
| Aliases | PSMC3 interacting protein, TBP-1 interacting protein, homologous-pairing protein 2 homolog |
| Synonyms | GT198, HOP2, HUMGT198A, ODG3, proteasome (prosome, macropain) 26S subunit, ATPase 3, interacting protein, PSMC3 interacting protein, Tat-binding interacting, TBPIP |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PSMC3IP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- ligand-dependent nuclear receptor interactor
- transcription co-activator
- DBD domain binding
- androgen receptor binding
- leucine zipper domain
- coiled-coil domain
- estrogen receptor binding
- protein binding
- thyroid hormone receptor binding
- identical protein binding
- binding protein
- TBPIP/Hop2 winged helix domain
- retinoid X receptor binding
- basic domain
- Leucine zipper with capping helix domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infertility condition
- ovarian dysgenesis type 3
- hypoplasia
- azoospermia
- uterine leiomyoma
- leiomyomatosis
role in cell
- expression in
- differentiation
- talazoparib sensitivity
- olaparib sensitivity
- transcription in
- self-renewal capacity
- binding in
- cell survival
- synapsis in
- homologous recombination repair in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PSMC3IP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- meiotic joint molecule formation
- reciprocal meiotic recombination
- positive regulation of transcription, DNA-dependent
- synapsis
- meiotic strand invasion involved in reciprocal meiotic recombination
Cellular Component
Where in the cell the gene product is active
- nucleoplasm
- condensed nuclear chromosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- ligand-dependent nuclear receptor transcription coactivator activity
- double-stranded DNA binding