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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GRAMD1C
GRAM domain containing 1C
Chromosome 3 · 3q13.31
NCBI Gene: 54762Ensembl: ENSG00000178075.21HGNC: HGNC:25252UniProt: B3KUR5
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcholesterol bindingcholesterol transfer activityintracellular sterol transportgastritisMyocardial IschemiaAbnormality of the skeletal systemhypertriglyceridemia 2
✦AI Summary

GRAMD1C encodes Aster-C, a non-vesicular cholesterol transporter that mediates cholesterol movement from the plasma membrane (PM) to the endoplasmic reticulum (ER). The protein localizes to ER-PM contact sites (EPCS) via its GRAM domain and uses its VASt/ASTER sterol-binding domain to facilitate cholesterol transfer 1. Despite its proposed role in cholesterol homeostasis, GRAMD1C appears to play a minor role in whole-body cholesterol balance, as Gramd1c-knockout mice showed no significant alterations in fecal, liver, or plasma cholesterol under low or high dietary conditions, though modest effects on bile acid and cortisol levels were observed under lipid-poor conditions 1. In the context of disease, GRAMD1C has emerged as a potential prognostic biomarker and therapeutic target across multiple malignancies. Genetically predicted reduced GRAMD1C levels associated with decreased ovarian cancer risk in Mendelian randomization analysis 2. GRAMD1C showed prognostic significance for hepatocellular carcinoma and was identified as part of a five-gene cholesterogenic signature for predicting young breast cancer prognosis, where lower expression correlated with better outcomes 3, 4. Additionally, GRAMD1C was identified in a four-gene diagnostic signature for distinguishing pediatric sepsis patients from healthy controls 5. These findings suggest GRAMD1C's expression patterns may serve as biomarkers across diverse disease contexts, though its specific mechanistic contributions remain incompletely understood.

Sources cited
1
GRAMD1C (Aster-C) is an ER resident cholesterol transporter with minor effects on whole-body cholesterol homeostasis in knockout mice
PMID: 38694206
2
Genetically predicted GRAMD1C levels showed evidence of shared causal variants with ovarian cancer and decreased OC risk
PMID: 39972314
3
GRAMD1C has prognostic significance for hepatocellular carcinoma
PMID: 37889061
4
GRAMD1C is part of a five-gene cholesterogenic signature predicting prognosis in young breast cancer patients
PMID: 35999846
5
GRAMD1C is part of a four-gene signature for diagnosing pediatric sepsis
PMID: 35198634
6
GRAMD1C expression is regulated in the small intestine in the context of cholesterol absorption and atherosclerosis
PMID: 40735873
Disease Associationsⓘ20
gastritisOpen Targets
0.27Weak
Myocardial IschemiaOpen Targets
0.19Weak
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
Adrenocorticotropic hormone deficiencyOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
familial glucocorticoid deficiencyOpen Targets
0.04Suggestive
glycogen storage disease VIOpen Targets
0.04Suggestive
fish eye diseaseOpen Targets
0.04Suggestive
Fish-eye diseaseOpen Targets
0.04Suggestive
Imerslund-Grasbeck syndrome type 2Open Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
hypoalphalipoproteinemia, primary, 1Open Targets
0.04Suggestive
transient infantile hypertriglyceridemia and hepatosteatosisOpen Targets
0.04Suggestive
menstrual cycle-dependent periodic feverOpen Targets
0.04Suggestive
familial hypercholesterolemiaOpen Targets
0.04Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.04Suggestive
Pituitary Gland AdenomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GRAMD1AShared pathway100%CD151Protein interaction78%GRAMD2BProtein interaction78%GRAMD1BProtein interaction65%RELCHShared pathway50%TSPO2Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Brain
23%
Bone Marrow
13%
Lung
12%
Heart
5%
Ovary
4%
Gene Interaction Network
Click a node to explore
GRAMD1CGRAMD1ACD151GRAMD2BGRAMD1BRELCHTSPO2
PROTEIN STRUCTURE
Preparing viewer…
PDB6GN5 · 1.41 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.88LoF Tolerant
pLIⓘ
0.08Tolerant
Observed/Expected LoF1.03 [0.37–1.88]
RankingsWhere GRAMD1C stands among ~20K protein-coding genes
  • #14,708of 20,598
    Most Researched18
  • #17,116of 17,882
    Most Constrained (LOEUF)1.88
Genes detectedGRAMD1C
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Potential drug targets for ovarian cancer identified through Mendelian randomization and colocalization analysis.
PMID: 39972314
J Ovarian Res · 2025
1.00
2
The nonvesicular sterol transporter Aster-C plays a minor role in whole body cholesterol balance.
PMID: 38694206
Front Physiol · 2024
0.90
3
Quantitative proteomics analysis reveals possible anticancer mechanisms of 5'-deoxy-5'-methylthioadenosine in cholangiocarcinoma cells.
PMID: 38923999
PLoS One · 2024
0.80
4
Potential Common Molecular Mechanisms Between Periodontitis and Hepatocellular Carcinoma: A Bioinformatic Analysis and Validation.
PMID: 37889061
Cancer Genomics Proteomics · 2023
0.70
5
A cholesterogenic gene signature for predicting the prognosis of young breast cancer patients.
PMID: 35999846
PeerJ · 2022
0.60