SYCE1: Synaptonemal Complex Central Element Protein 1
Key meiotic recombination and chromosome synapsis gene; implicated in spermatogenic failure and ovarian insufficiency.
Gene Information Card
| Symbol | SYCE1 |
|---|---|
| Full Name | Synaptonemal Complex Central Element Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 93426 ncbi.nlm.nih.gov/gene/93426 |
| Ensembl ID | ENSG00000138185 |
| UniProt ID | Q8N0S2 |
| OMIM ID | 611486 |
| HGNC ID | 28852 |
| Aliases | SYCE1, C10orf104, SPGF23, POF12 |
Description
SYCE1 (Synaptonemal Complex Central Element Protein 1) is a protein-coding gene located on chromosome 10q26.3. It encodes a component of the central element of the synaptonemal complex, a protein structure that forms between homologous chromosomes during prophase I of meiosis. SYCE1 is essential for the assembly of the central element and for proper homologous chromosome synapsis, crossing-over, and meiotic progression. Loss-of-function mutations in SYCE1 cause spermatogenic failure 23 (SPGF23) and premature ovarian failure 12 (POF12), leading to male and female infertility, respectively.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 23 (SPGF23) | Biallelic loss-of-function mutations disrupt synaptonemal complex assembly, causing meiotic arrest and azoospermia. | OMIM #617707; ClinVar; multiple case reports |
| Premature ovarian failure 12 (POF12) | Homozygous or compound heterozygous mutations impair meiotic synapsis in oocytes, leading to ovarian insufficiency. | OMIM #618023; ClinVar; literature |
| Non-obstructive azoospermia | SYCE1 variants cause meiotic arrest at the zygotene/pachytene stage, resulting in absence of sperm. | PubMed; case series |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Ovary | 4.2 | Medium |
| Fallopian tube | 1.8 | Low |
| Thyroid | 0.6 | Not detected |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 8.1 | Testicular germ cell tumor model |
| Embryonic stem cells (H1) | 0.2 | Low/absent |
| K562 | 0.1 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.613C>T (p.Arg205*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
| c.550_551del (p.Glu184fs) | Frameshift | Rare | Loss of function; truncated protein |
| c.682C>T (p.Arg228Trp) | Missense | Rare | Likely loss of function; disrupts central element assembly |
Mutation functional classification
Loss of Function (LOF)
Most reported SYCE1 mutations are biallelic loss-of-function (nonsense, frameshift, start loss) leading to absence of functional protein and meiotic arrest.
Gain of Function (GOF)
No gain-of-function mutations reported for SYCE1.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • synaptonemal complex (GO:0000794) | • synaptonemal complex assembly (GO:0007130) |
| • homologous chromosome pairing at meiosis (GO:0007129) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) |
Pathways
• Meiotic recombination (Reactome: R-HSA-912446)
• Synaptonemal complex assembly (Reactome: R-HSA-9616254)
Protein Summary
SYCE1 is a 351-amino acid protein (UniProt Q8N0S2) that localizes to the central element of the synaptonemal complex. It interacts with other central element proteins (SYCE2, SYCE3, TEX12) to form a transverse filament network that stabilizes homologous chromosome pairing. The protein contains a coiled-coil domain essential for oligomerization and complex assembly. SYCE1 is testis- and ovary-enriched, with minimal expression in somatic tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYCE1 Knockout HEK293 Cell Line | EDJ-KQ11232 | Human | 93426 | Details Get a Quote |
| SYCE1L Knockout HEK293 Cell Line | EDJ-KQ15577 | Human | 100130958 | Details Get a Quote |
| SYCE1L Knockout HCT 116 Cell Line | EDJ-KQ45217 | Human | 100130958 | Details Get a Quote |
| SYCE1L Knockout A-549 Cell Line | EDJ-KQ46444 | Human | 100130958 | Details Get a Quote |
| SYCE1L Knockout HeLa Cell Line | EDJ-KQ46446 | Human | 100130958 | Details Get a Quote |
| SYCE1 Knockout HeLa Cell Line | EDJ-KQ57863 | Human | 93426 | Details Get a Quote |
| SYCE1 Knockout A-549 Cell Line | EDJ-KQ66359 | Human | 93426 | Details Get a Quote |
| SYCE1 Knockout HCT 116 Cell Line | EDJ-KQ74782 | Human | 93426 | Details Get a Quote |
