PSMC3IP (PSMC3 interacting protein)
- symbol:
- PSMC3IP
- locus group:
- protein-coding gene
- location:
- 17q21.2
- gene_family:
- alias symbol:
- TBPIP|GT198|HUMGT198A|Hop2
- alias name:
- TBP-1 interacting protein|homologo…
- entrez id:
- 29893
- ensembl gene id:
- ENSG00000131470
- ucsc gene id:
- uc002iai.4
- refseq accession:
- NM_013290
- hgnc_id:
- HGNC:17928
- approved reserved:
- 2006-02-27
PSMC3IP（也称为HOP2）是一个在减数分裂和DNA修复中起关键作用的基因，编码一种与减数分裂特异性同源重组相关的蛋白质。它属于PSMC（蛋白酶体26S亚基ATP酶）基因家族，但功能上与蛋白酶体无关，而是参与减数分裂过程中同源染色体的配对和重组。PSMC3IP的主要作用位点是生殖细胞，特别是在减数分裂前期，它通过与DMC1和RAD51等重组酶相互作用，促进同源染色体之间的正确配对和DNA双链断裂的修复。该基因的突变会导致减数分裂缺陷，进而引发不孕症，尤其是女性卵巢早衰（POI）和男性无精症。PSMC3IP突变会破坏其与重组酶的结合能力，导致同源重组失败，染色体无法正确分离，最终造成配子生成障碍。研究表明，PSMC3IP的过表达可能干扰正常的减数分裂进程，导致非整倍体或基因组不稳定性，而降低表达则可能直接抑制同源重组，引发减数分裂停滞。PSMC3IP属于PSMC基因家族，该家族成员通常编码蛋白酶体26S调节亚基的ATP酶成分，参与蛋白质降解，但PSMC3IP是一个例外，其功能独立于蛋白酶体活性。PSMC3IP的异常表达或功能缺陷不仅影响生殖细胞发育，还可能与其他疾病如癌症相关，因为减数分裂和DNA修复机制的紊乱常与肿瘤发生有关。
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]
Gene Ontology
Subcellular localization of PSMC3IP (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for PSMC3IP:
| Interacting Gene | Interaction | Source/Score |
| Disease | Score | NofPmids | NofSnps | Source |
| Pure Gonadal Dysgenesis, 46, XX | 0.12 | 0 | 0 | ORPHANET |
| OVARIAN DYSGENESIS 3 | 0.12 | 0 | 0 | CLINVAR |
| Gonadal Dysgenesis, 46,XX | 0.12 | 0 | 0 | ORPHANET |
| Prostatic Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Azoospermia | 0.002638474 | 1 | 0 | BeFree_GAD |
| Ovarian Failure, Premature | 0.000542884 | 2 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
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