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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PSG1
pregnancy specific beta-1-glycoprotein 1
Chromosome 19 · 19q13.2
NCBI Gene: 5669Ensembl: ENSG00000231924.10HGNC: HGNC:9514UniProt: G5E9F7
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingfemale pregnancyextracellular regionArthropathygeneralized dystoniaobesity due to melanocortin 4 receptor deficiencyLIPE-related familial partial lipodystrophy
✦AI Summary

PSG1 (pregnancy-specific beta-1-glycoprotein 1) is a trophoblast-secreted immunoglobulin superfamily member that functions as a critical regulator of maternal-fetal interactions during pregnancy 1. Mechanistically, PSG1 promotes endothelial cell proliferation and vascular development primarily through the TGF-β/Orai3 signaling pathway, enhancing nitric oxide production and intracellular calcium levels in human umbilical vein endothelial cells 2. PSG1 also regulates trophoblast cell migration via the Orai1/Akt pathway, processes essential for placental development 3. The protein is internalized by platelets and influences platelet function during pregnancy 4. Beyond pregnancy, PSG1 expression serves as a biomarker of skin aging in dermal fibroblasts 5. Pathologically, elevated PSG1 expression promotes gastric cancer progression, correlating with poor prognosis and enhanced cell proliferation, migration, and invasion 6. In breast cancer, PSG1 mediates chemoresistance through TGF-β-related pathways and can be pharmacologically targeted using dicumarol 7. Conversely, decreased serum PSG1 levels are associated with early-onset preeclampsia, suggesting impaired trophoblast migration 3. These findings establish PSG1 as a multifunctional protein with critical roles in normal pregnancy physiology and aberrant involvement in cancer and pregnancy pathologies.

Sources cited
1
PSGs are the most abundant trophoblastic proteins in maternal blood; PSG1 associates with and activates TGF-β1 and TGF-β2; PSGs have immunoregulatory, pro-angiogenic, and anti-platelet functions
PMID: 25023693
2
PSG1 promotes HUVEC proliferation and inhibits apoptosis through TGF-β/Orai3 signaling pathway; increases intracellular calcium and NO levels; regulates vascular tone
PMID: 41067714
3
PSG1 promotes trophoblast cell migration via Orai1/Akt signaling; serum PSG1 levels are decreased in early-onset preeclampsia
PMID: 38540713
4
Human platelets internalize PSG1; platelets express PSGs during pregnancy
PMID: 40494562
5
PSG1 is expressed at increased levels in chronologically-aged and photo-damaged skin; identified as a biomarker of dermal aging
PMID: 29913199
6
PSG1 is highly expressed in gastric cancer; increased expression associates with poor prognosis; PSG1 knockdown inhibits cancer cell proliferation, migration, and invasion
PMID: 36309385
7
PSG1 mediates chemoresistance in ER-negative breast cancer through TGF-β pathway; dicumarol can target PSG1 to reduce chemoresistance
PMID: 27653744
Disease Associationsⓘ20
ArthropathyOpen Targets
0.32Weak
generalized dystoniaOpen Targets
0.28Weak
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.06Suggestive
LIPE-related familial partial lipodystrophyOpen Targets
0.04Suggestive
obesity due to leptin receptor gene deficiencyOpen Targets
0.04Suggestive
preeclampsiaOpen Targets
0.04Suggestive
PLIN1-related familial partial lipodystrophyOpen Targets
0.04Suggestive
AXIN2-related attenuated familial adenomatous polyposisOpen Targets
0.04Suggestive
colitisOpen Targets
0.04Suggestive
obesity due to pro-opiomelanocortin deficiencyOpen Targets
0.04Suggestive
obesity due to prohormone convertase I deficiencyOpen Targets
0.04Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.04Suggestive
Muir-Torre syndromeOpen Targets
0.04Suggestive
obesity due to congenital leptin deficiencyOpen Targets
0.04Suggestive
short stature due to primary acid-labile subunit deficiencyOpen Targets
0.04Suggestive
AKT2-related familial partial lipodystrophyOpen Targets
0.03Suggestive
Familial partial lipodystrophy due to AKT2 mutationsOpen Targets
0.03Suggestive
familial partial lipodystrophy, Kobberling typeOpen Targets
0.03Suggestive
Familial partial lipodystrophy, Köbberling typeOpen Targets
0.03Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RLN1Shared pathway100%PZPShared pathway100%CSH1Protein interaction94%CSH2Protein interaction94%PSG6Protein interaction86%PSG4Protein interaction86%
Tissue Expression6 tissues
Brain
100%
Liver
0%
Heart
0%
Bone Marrow
0%
Lung
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
PSG1RLN1PZPCSH1CSH2PSG6PSG4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O75238
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.53 [1.24–1.86]
RankingsWhere PSG1 stands among ~20K protein-coding genes
  • #9,003of 20,598
    Most Researched49
  • #16,943of 17,882
    Most Constrained (LOEUF)1.86
Genes detectedPSG1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Efficacy of Lingual Laser Frenectomy in Pediatric OSAS: A Randomized Double-Blinded and Controlled Clinical Study.
PMID: 34204017
Int J Environ Res Public Health · 2021
1.00
2
PSG1 in Regulating Proliferation and Migration of Human Umbilical Vein Endothelial Cells Through the TGF-β/Orai3 Signaling Pathway.
PMID: 41067714
J Obstet Gynaecol Res · 2025
0.90
3
Genome-wide profiling of adult human papillary and reticular fibroblasts identifies ACAN, Col XI α1, and PSG1 as general biomarkers of dermis ageing, and KANK4 as an exemplary effector of papillary fibroblast ageing, related to contractility.
PMID: 29913199
Mech Ageing Dev · 2019
0.80
4
Pregnancy-specific glycoproteins: complex gene families regulating maternal-fetal interactions.
PMID: 25023693
Int J Dev Biol · 2014
0.70
5
Human Platelets Internalize Pregnancy-Specific Glycoprotein-1 (PSG1).
PMID: 40494562
Thromb Haemost · 2026
0.60