PSMC3IP
PSMC3 Interacting Protein
Gene Information Card
| Symbol | PSMC3IP |
|---|---|
| Full Name | PSMC3 Interacting Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 29893 ncbi.nlm.nih.gov/gene/29893 |
| Ensembl ID | ENSG00000131470 |
| UniProt ID | Q9Y6K1 |
| OMIM ID | 605353 |
| HGNC ID | 17968 |
| Aliases | TBPIP, HOP2, HOP2/MND1 |
Description
PSMC3IP encodes a protein that interacts with PSMC3 (a component of the 26S proteasome) and is essential for homologous recombination during meiosis. The protein forms a complex with MND1 to promote DMC1- and RAD51-mediated strand exchange, critical for proper chromosome segregation and DNA repair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ovarian insufficiency 8 (POI8) | Loss-of-function mutations impair meiotic homologous recombination, leading to ovarian failure. | ClinVar, OMIM |
| Premature ovarian failure | Disruption of PSMC3IP function causes meiotic arrest and oocyte depletion. | OMIM #615723 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 8.3 | Low |
| Lymph node | 6.1 | Low |
| Spleen | 5.4 | Low |
| Bone marrow | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 9.8 | Myelogenous leukemia line |
| HeLa | 7.1 | Cervical carcinoma line |
| HEK 293 | 6.5 | Embryonic kidney line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely null allele |
| c.2T>C (p.Met1Thr) | Missense | Rare | Loss of start codon, likely null allele |
| c.3G>A (p.Met1Ile) | Missense | Rare | Loss of start codon, likely null allele |
Mutation functional classification
Loss of Function (LOF)
Mutations causing loss of start codon or truncation impair homologous recombination, leading to meiotic arrest and primary ovarian insufficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • double-stranded DNA binding (GO:0003690) |
| • DNA recombination (GO:0006310) | • reciprocal meiotic recombination (GO:0007131) |
| • DNA duplex unwinding (GO:0032508) | • replication fork protection (GO:0048478) |
Pathways
• Homologous recombination (Reactome: R-HSA-5695940)
• Meiotic recombination (Reactome: R-HSA-912446)
Protein Summary
PSMC3IP (also known as HOP2) is a 217-amino acid protein that forms a heterodimer with MND1. This complex stimulates the DNA strand exchange activity of DMC1 and RAD51, essential for homologous pairing and recombination during meiosis. The protein localizes to the nucleus and is highly expressed in testis and ovary.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSMC3IP Knockout HEK293 Cell Line | EDJ-KQ9068 | Human | 29893 | Details Get a Quote |
| PSMC3IP Knockout A-549 Cell Line | EDJ-KQ35543 | Human | 29893 | Details Get a Quote |
| PSMC3IP Knockout HCT 116 Cell Line | EDJ-KQ35544 | Human | 29893 | Details Get a Quote |
| PSMC3IP Knockout HeLa Cell Line | EDJ-KQ35545 | Human | 29893 | Details Get a Quote |
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