SYCP1: Synaptonemal Complex Protein 1
Key meiotic structural protein involved in homologous chromosome pairing and recombination
Gene Information Card
| Symbol | SYCP1 |
|---|---|
| Full Name | Synaptonemal Complex Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 6847 ncbi.nlm.nih.gov/gene/6847 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | Q15431 |
| OMIM ID | 602162 |
| HGNC ID | 11487 |
| Aliases | SCP1, SCP-1, SYCP1 |
Description
SYCP1 encodes a major structural component of the synaptonemal complex, a protein scaffold that forms between homologous chromosomes during meiosis. It is essential for homologous pairing, synapsis, and recombination. The protein contains a central coiled-coil domain and localizes to the transverse filaments of the synaptonemal complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with azoospermia | Disruption of meiotic synapsis due to SYCP1 mutations leads to meiotic arrest and impaired spermatogenesis | PMID: 32693026 |
| Non-obstructive azoospermia | Loss-of-function variants in SYCP1 cause meiotic arrest at the zygotene/pachytene stage | PMID: 32693026 |
| Primary ovarian insufficiency | SYCP1 mutations may impair oocyte meiosis, leading to premature ovarian failure | PMID: 32693026 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Ovary | 3.2 | Low |
| Fallopian tube | 0.8 | Not detected |
| Endometrium | 0.5 | Not detected |
| Prostate | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | High | Meiotic cells |
| Oocytes | Moderate | Meiotic cells |
| HEK293 | Not detected | Non-meiotic cell line |
| HeLa | Not detected | Non-meiotic cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.172C>T (p.Arg58*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.487_488del (p.Leu163Valfs*2) | Frameshift | Rare | Loss of function; premature termination |
| c.1012G>A (p.Gly338Arg) | Missense | Rare | Likely loss of function; disrupts coiled-coil domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature termination, leading to loss of SYCP1 function and meiotic arrest.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • synaptonemal complex assembly | • homologous chromosome pairing |
| • meiotic cell cycle | • protein binding |
| • chromosome organization |
Pathways
• Meiotic recombination
• Synaptonemal complex formation
Protein Summary
SYCP1 is a 976-amino acid protein with a central coiled-coil domain that forms homodimers and assembles into transverse filaments of the synaptonemal complex. It interacts with other synaptonemal complex proteins (e.g., SYCP2, SYCP3) to mediate homologous chromosome synapsis during prophase I of meiosis. The protein is predominantly expressed in testis and ovary.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYCP1 Knockout HEK293 Cell Line | EDJ-KQ5871 | Human | 6847 | Details Get a Quote |
| SYCP1 Knockout HeLa Cell Line | EDJ-KQ54596 | Human | 6847 | Details Get a Quote |
| SYCP1 Knockout A-549 Cell Line | EDJ-KQ63078 | Human | 6847 | Details Get a Quote |
| SYCP1 Knockout HCT 116 Cell Line | EDJ-KQ71554 | Human | 6847 | Details Get a Quote |
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