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.
SYAP1
synapse associated protein 1
Chromosome X · Xp22.2
NCBI Gene: 94056Ensembl: ENSG00000169895.7HGNC: HGNC:16273UniProt: Q96A49
69PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcellular response to insulin stimuluscellular response to platelet-derived growth factor stimulusTORC2 signalingneurodegenerative diseaseinfectionlung adenocarcinomamarginal zone B-cell lymphoma
✦AI Summary

SYAP1 (synapse associated protein 1) is an X-linked gene with diverse cellular functions. Its primary role involves adipocyte differentiation through promotion of mTORC2-mediated phosphorylation of AKT1 at Ser-473 following growth factor stimulation 1. SYAP1 functions as an intrinsic regulator of CD59, a membrane complement regulatory protein on endothelial cells 2. The gene is expressed across most adult human tissues 3 and shows sex-dependent differences in DNA methylation and gene expression in human skeletal muscle, with differential patterns between myoblasts and myotubes 4. Disease relevance is substantial: SYAP1 expression is downregulated in approximately 50% of hepatocellular carcinoma cases 3. The gene was identified as an X-chrX-linked ASD candidate through genome-wide association analysis 5. SYAP1 is incorporated into telomere-related gene prognostic signatures for lung adenocarcinoma 6 and mast cell-related gene signatures predicting immunotherapy response 7. In the latter context, SYAP1 silencing reduced lung adenocarcinoma cell proliferation and invasion while increasing apoptosis 7. Additionally, SYAP1 was differentially expressed in diabetic wound proteomes, suggesting involvement in dysregulated healing responses 8. Clinically, SYAP1 represents a multi-functional biomarker relevant to cancer prognosis, immunotherapy prediction, and potentially autism spectrum disorder pathogenesis.

Sources cited
1
SYAP1 promotes mTORC2-mediated phosphorylation of AKT1 at Ser-473 in adipocyte differentiation
PMID: 23300339
2
SYAP1 identified as X-linked ASD candidate gene through chromosome X-wide association study
PMID: 39706197
3
SYAP1 functions as intrinsic regulator of CD59 complement regulatory protein on endothelial cells
PMID: 39945674
4
SYAP1 mRNA downregulated in 50% of hepatocellular carcinoma cases; expressed in most adult tissues
PMID: 12549212
5
SYAP1 shows sex-dependent differences in DNA methylation and gene expression in skeletal muscle myoblasts and myotubes
PMID: 30646953
6
SYAP1 included in telomere-related gene signature for lung adenocarcinoma prognosis prediction
PMID: 37919072
7
SYAP1 silencing reduces lung adenocarcinoma cell proliferation and invasion while increasing apoptosis; part of mast cell-related gene signature
PMID: 37256127
8
SYAP1 differentially expressed in obese diabetic wound proteome on day 7 post-injury
PMID: 33350981
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.19Weak
infectionOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
marginal zone B-cell lymphomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
SepsisOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
amnesiaOpen Targets
0.00Suggestive
AnxietyOpen Targets
0.00Suggestive
Intellectual disabilityOpen Targets
0.00Suggestive
breast carcinomaOpen Targets
0.00Suggestive
basal ganglia diseaseOpen Targets
0.00Suggestive
bone diseaseOpen Targets
0.00Suggestive
syndromic X-linked intellectual disability 5Open Targets
0.00Suggestive
tuberculosisOpen Targets
0.00Suggestive
autism spectrum disorderOpen Targets
0.00Suggestive
metastatic melanomaOpen Targets
0.00Suggestive
Global developmental delayOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PIN1Protein interaction78%MARS1Shared pathway17%SLC25A33Shared pathway13%ERRFI1Shared pathway13%SHISA9Shared pathway13%SHISA8Shared pathway13%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
100%
Brain
89%
Heart
63%
Lung
54%
Ovary
45%
Gene Interaction Network
Click a node to explore
SYAP1PIN1MARS1SLC25A33ERRFI1SHISA9SHISA8
PROTEIN STRUCTURE
Preparing viewer…
PDB1X3A · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.10 [0.05–0.26]
RankingsWhere SYAP1 stands among ~20K protein-coding genes
  • #6,855of 20,598
    Most Researched69
  • #857of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedSYAP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Chromosome X-wide common variant association study in autism spectrum disorder.
PMID: 39706197
Am J Hum Genet · 2025
1.00
2
SARS-CoV-2 enhances complement-mediated endothelial injury via the suppression of membrane complement regulatory proteins.
PMID: 39945674
Emerg Microbes Infect · 2025
0.90
3
[Cloning and characterization of syap1, a down regulated gene in human hepatocellular carcinoma].
PMID: 12549212
Shi Yan Sheng Wu Xue Bao · 2001
0.80
4
Sex influences DNA methylation and gene expression in human skeletal muscle myoblasts and myotubes.
PMID: 30646953
Stem Cell Res Ther · 2019
0.70
5
Development and Validation of a Prognosis-Prediction Signature for Patients with Lung Adenocarcinoma Based on 11 Telomere-Related Genes.
PMID: 37919072
Front Biosci (Landmark Ed) · 2023
0.60