REC114 Meiotic Recombination Protein
Key regulator of meiotic double-strand break formation and fertility
Gene Information Card
| Symbol | REC114 |
|---|---|
| Full Name | REC114 meiotic recombination protein |
| Gene Type | protein-coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 283677 ncbi.nlm.nih.gov/gene/283677 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q5VY43 |
| OMIM ID | 618421 |
| HGNC ID | 28377 |
| Aliases | C15orf58, MGC26717 |
Description
REC114 encodes a protein essential for meiotic recombination, specifically involved in the formation of programmed double-strand breaks (DSBs) during prophase I of meiosis. It interacts with other DSB-forming factors such as MEI4 and IHO1 to ensure proper chromosome pairing and segregation. Loss of REC114 function leads to meiotic arrest and infertility in model organisms, and variants in humans are associated with premature ovarian failure and azoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Premature ovarian failure 19 (POF19) | Defective meiotic DSB formation due to REC114 loss-of-function variants leads to oocyte depletion and early menopause. | OMIM #618421; PMID: 31636394 |
| Non-obstructive azoospermia (NOA) | Impaired spermatogenesis from meiotic arrest caused by REC114 mutations. | ClinVar; PMID: 31636394 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 6.2 | Low |
| Fallopian tube | 3.1 | Low |
| Skin | 0.8 | Not detected |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 0.2 | Not detected |
| HeLa | 0.1 | Not detected |
| HEK293 | 0.3 | Not detected |
| Testicular germ cell line (e.g., TCam-2) | 8.0 | Medium (model) - limited data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.286C>T (p.Arg96*) | nonsense | <0.01% | Premature stop, loss of function |
| c.512T>C (p.Leu171Pro) | missense | <0.01% | Likely damaging, disrupts protein interaction |
Mutation functional classification
Loss of Function (LOF)
REC114 loss-of-function mutations (nonsense, frameshift, start-loss) cause meiotic DSB failure, leading to infertility (POF19, NOA).
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • reciprocal meiotic recombination (GO:0007131) | • condensed nuclear chromosome (GO:0000794) |
| • nucleus (GO:0005634) | • meiotic DNA double-strand break formation (GO:0017109) |
Pathways
• Meiotic recombination (R-HSA-912446)
• Formation of meiotic double-strand breaks (R-HSA-5696398)
Protein Summary
REC114 is a 289-amino-acid protein (UniProt Q5VY43) localized to the nucleus, where it acts as a scaffold for DSB-forming machinery during meiosis. It contains a coiled-coil domain mediating interactions with MEI4 and IHO1. Expression is highly enriched in testis and ovary, consistent with its meiotic role. Structural studies are limited; no crystal structure is available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| REC114 Knockout HEK293 Cell Line | EDJ-KQ15027 | Human | 283677 | Details Get a Quote |
| REC114 Knockout HeLa Cell Line | EDJ-KQ59407 | Human | 283677 | Details Get a Quote |
| REC114 Knockout A-549 Cell Line | EDJ-KQ67875 | Human | 283677 | Details Get a Quote |
| REC114 Knockout HCT 116 Cell Line | EDJ-KQ76255 | Human | 283677 | Details Get a Quote |
