SHOC1: A Key Regulator of Meiotic Recombination and DNA Repair
Comprehensive genomic and functional analysis of SHOC1 (shortage in chiasmata 1), a meiotic recombination protein involved in crossover formation and genome stability.
Gene Information Card
| Symbol | SHOC1 |
|---|---|
| Full Name | Shortage in chiasmata 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 9q31.3 |
| NCBI Gene ID | 158401 ncbi.nlm.nih.gov/gene/158401 |
| Ensembl ID | ENSG00000165006 |
| UniProt ID | Q6ZVD7 |
| OMIM ID | 609002 |
| HGNC ID | 26521 |
| Aliases | C9orf84, FLJ90652, MGC138290, MGC138291 |
Description
SHOC1 (shortage in chiasmata 1) encodes a protein essential for meiotic recombination, specifically for crossover formation between homologous chromosomes. It is a component of the synaptonemal complex and interacts with other meiotic proteins to facilitate DNA double-strand break repair. SHOC1 is also implicated in somatic DNA repair pathways and genome stability. Loss of function leads to meiotic arrest, reduced chiasmata, and infertility in model organisms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ovarian insufficiency (POI) | SHOC1 mutations impair meiotic crossover formation, leading to oocyte depletion and early menopause. | ClinVar, OMIM |
| Non-obstructive azoospermia (NOA) | Defective meiotic recombination in spermatocytes causes spermatogenic arrest. | ClinVar, OMIM |
| Infertility (female and male) | Biallelic loss-of-function variants disrupt meiosis, resulting in gametogenesis failure. | ClinVar, OMIM |
| Cancer (potential) | Altered SHOC1 expression may contribute to genomic instability and tumorigenesis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 6.8 | Low |
| Bone marrow | 3.2 | Low |
| Lymph node | 2.1 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 4.3 | Moderate expression |
| HeLa (cervical) | 2.8 | Low expression |
| A549 (lung) | 1.9 | Low expression |
| HEK293 (embryonic kidney) | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature stop |
| c.890A>G (p.Tyr297Cys) | Missense | Rare | Likely damaging; disrupts protein interaction |
| c.1456G>A (p.Gly486Arg) | Missense | Rare | Uncertain significance; possibly benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature termination, leading to complete loss of SHOC1 function, resulting in meiotic arrest and infertility.
Gain of Function (GOF)
No gain-of-function mutations reported for SHOC1.
Dominant Negative (DN)
No dominant-negative mutations reported; SHOC1 acts in a recessive manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Meiotic recombination (Reactome: R-HSA-912446)
• Homologous recombination repair of double-strand breaks (Reactome: R-HSA-5693571)
• Synaptonemal complex formation (Reactome: R-HSA-1500620)
Protein Summary
SHOC1 is a 1,020-amino acid nuclear protein that localizes to meiotic chromosomes and is required for crossover formation. It contains a conserved domain of unknown function (DUF) and interacts with SPO11, MSH4, and MSH5. The protein is essential for processing meiotic double-strand breaks into crossovers. In somatic cells, SHOC1 may participate in DNA repair pathways, though its role is less defined. Structural studies suggest it forms a complex with other meiotic proteins to stabilize recombination intermediates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SHOC1 Knockout HEK293 Cell Line | EDJ-KQ14470 | Human | 158401 | Details Get a Quote |
| SHOC1 Knockout HCT 116 Cell Line | EDJ-KQ45938 | Human | 158401 | Details Get a Quote |
| SHOC1 Knockout HeLa Cell Line | EDJ-KQ58784 | Human | 158401 | Details Get a Quote |
| SHOC1 Knockout A-549 Cell Line | EDJ-KQ67266 | Human | 158401 | Details Get a Quote |
