HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SYCP1
synaptonemal complex protein 1
Chromosome 1 · 1p13.2
NCBI Gene: 6847Ensembl: ENSG00000198765.12HGNC: HGNC:11487UniProt: A0A024R0I2
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein homotetramerizationdouble-stranded DNA bindinghomologous chromosome pairing at meiosissynaptonemal complexneurodegenerative diseasespinal stenosisovarian neoplasmbrain aneurysm
✦AI Summary

SYCP1 (synaptonemal complex protein 1) is a major structural component of the synaptonemal complex, a protein scaffold that assembles between homologous chr1 during meiotic prophase 1. As a key transverse filament protein, SYCP1 is essential for proper chromosome 1, homologous chromosome 1, and meiotic recombination during oocyte and spermatocyte development 2. SYCP1 exists as tetramers that form a protein lattice; the central element protein SYCE3 remodels this lattice by converting SYCP1 tetramers into heterotrimers, disrupting the original assembly interface and establishing a new integrated SYCP1-SYCE3 lattice that recruits additional central element complexes 3. SYCP1 transcription is stage-specifically regulated during meiosis, initiated at leptotene-zygotene stages with distinct regulatory mechanisms in male versus female gonads 4. Mutations in SYCP1 cause male infertility; a homozygous frameshift mutation (c.2892delA) resulted in severe oligozoospermia through impaired DNA binding and reduced capacity to repair meiotic double-strand breaks 1. Additionally, HSF5 regulates SYCP1 transcription during meiotic progression, and HSF5 deficiency causes spermatogenic arrest partly through reduced SYCP1 expression 2. Pathogenic SYCP1 variants are increasingly recognized as causes of non-obstructive azoospermia and spermatogenic arrest 5.

Sources cited
1
SYCP1 is a transverse filament protein essential for meiotic synapsis; homozygous frameshift mutation causes severe oligozoospermia through impaired DNA binding and unrepaired double-strand breaks
PMID: 35377450
2
HSF5 regulates SYCP1 transcription during meiotic progression; HSF5 deficiency causes defects in synapsis and spermatogenic arrest at late pachytene stage
PMID: 38958533
3
SYCE3 remodels SYCP1 tetramers into heterotrimers, disrupting the original lattice and establishing an integrated SYCP1-SYCE3 lattice for long-range synapsis
PMID: 36635604
4
SYCP1 transcription is stage-specifically regulated during meiosis, starting at leptotene-zygotene stages with different regulatory mechanisms in male versus female gonads
PMID: 10096061
5
SYCP1 pathogenic variants are frequently linked to spermatogenic arrest and non-obstructive azoospermia
PMID: 41339899
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.27Weak
spinal stenosisOpen Targets
0.24Weak
ovarian neoplasmOpen Targets
0.21Weak
brain aneurysmOpen Targets
0.12Weak
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
partial androgen insensitivity syndromeOpen Targets
0.06Suggestive
46,XX gonadal dysgenesisOpen Targets
0.06Suggestive
isochromosomy YqOpen Targets
0.06Suggestive
spermatogenic failure 71Open Targets
0.06Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.06Suggestive
ring chromosome YOpen Targets
0.05Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
C14orf39Protein interaction87%STRA8Protein interaction85%DAZLProtein interaction84%TEX12Protein interaction83%SYCP3Protein interaction81%REC8Protein interaction79%
Tissue Expression6 tissues
Liver
100%
Ovary
85%
Brain
60%
Lung
50%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SYCP1C14orf39STRA8DAZLTEX12SYCP3REC8
PROTEIN STRUCTURE
Preparing viewer…
PDB6F5X · 1.91 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.25 [0.16–0.41]
RankingsWhere SYCP1 stands among ~20K protein-coding genes
  • #10,873of 20,598
    Most Researched36
  • #2,060of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedSYCP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Deciphering meiotic chromatin organization by SYCP3.
PMID: 40488283
Nucleic Acids Res · 2025
1.00
2
HSF5 Deficiency Causes Male Infertility Involving Spermatogenic Arrest at Meiotic Prophase I in Humans and Mice.
PMID: 38958533
Adv Sci (Weinh) · 2024
0.90
3
Differential expression and regulation of ADAD1, DMRTC2, PRSS54, SYCE1, SYCP1, TEX101, TEX48, and TMPRSS12 gene profiles in colon cancer tissues and their in vitro response to epigenetic drugs.
PMID: 39208330
PLoS One · 2024
0.80
4
A rare frameshift mutation in SYCP1 is associated with human male infertility.
PMID: 35377450
Mol Hum Reprod · 2022
0.70
5
Structural maturation of SYCP1-mediated meiotic chromosome synapsis by SYCE3.
PMID: 36635604
Nat Struct Mol Biol · 2023
0.60