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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GRAMD1B
GRAM domain containing 1B
Chromosome 11 Β· 11q24.1
NCBI Gene: 57476Ensembl: ENSG00000023171.20HGNC: HGNC:29214UniProt: A0A024R3M2
45PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
lysosome to ER cholesterol transportendoplasmic reticulum membraneplasma membraneendoplasmic reticulum-plasma membrane contact sitechronic lymphocytic leukemiaschizophrenialymphoid leukemialeukemia
✦AI Summary

GRAMD1B is a non-vesicular cholesterol transporter that mediates the movement of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER), playing a critical role in cholesterol homeostasis 1. The protein contains a GRAM domain that senses "accessible" cholesterol and anionic lipids (such as phosphatidylserine) at the PM, and a StART-like domain that facilitates cholesterol extraction and transport 1. GRAMD1B functions at ER-PM contact sites, where it is recruited in response to increased PM cholesterol levels and works coordinately with NPC1 to regulate cholesterol egress from endocytic organelles 2. In intestinal enterocytes, GRAMD1B (Aster-B) is essential for non-vesicular cholesterol movement downstream of NPC1L1, with GRAMD1B-deficient mice showing impaired dietary cholesterol absorption and protection against diet-induced hypercholesterolemia 3. In the nervous system, GRAMD1B is implicated in neuroinflammatory and neurodegenerative diseases; it is upregulated in Alzheimer's disease and frontotemporal lobar degeneration models, where it increases free cholesterol accumulation and impairs autophagy flux, ultimately promoting phosphorylated tau accumulation 4. Additionally, GRAMD1B variants have been associated with multiple sclerosis susceptibility and serum lipid levels 56. The GRAM domain has been engineered as a biosensor (GRAM-W) to visualize accessible cholesterol dynamics in live cells 7.

Sources cited
1
GRAMD1B mediates sensing and transport of accessible cholesterol from PM to ER via GRAM domain recognition and StART-like domain-dependent extraction
PMID: 33932585
2
GRAMD1B interacts with NPC1 at ER-endocytic organelle membrane contact sites to regulate cholesterol egress
PMID: 31537798
3
GRAMD1B (Aster-B) is critical for non-vesicular cholesterol movement in enterocytes and dietary cholesterol absorption
PMID: 37943936
4
GRAMD1B is upregulated in Alzheimer's disease and FTLD, increases free cholesterol and lipid droplets, impairs autophagy, and promotes phosphorylated tau accumulation
PMID: 40204713
5
GRAMD1B variants are associated with multiple sclerosis susceptibility and the protein is downregulated in active MS lesions
PMID: 36553660
6
GRAMD1B variants are associated with serum lipid levels in genome-wide association studies
PMID: 40537477
7
The GRAMD1B GRAM domain functions as a cholesterol biosensor (GRAM-W) to visualize accessible cholesterol in live cells
PMID: 37880244
Disease Associationsβ“˜20
chronic lymphocytic leukemiaOpen Targets
0.48Moderate
schizophreniaOpen Targets
0.46Moderate
lymphoid leukemiaOpen Targets
0.46Moderate
leukemiaOpen Targets
0.38Weak
multiple myelomaOpen Targets
0.38Weak
Hodgkins lymphomaOpen Targets
0.38Weak
Abnormal pupillary functionOpen Targets
0.31Weak
lymphoid neoplasmOpen Targets
0.30Weak
non-Hodgkins lymphomaOpen Targets
0.30Weak
neoplasm of mature B-cellsOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.30Weak
autism spectrum disorderOpen Targets
0.30Weak
Graves diseaseOpen Targets
0.29Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.26Weak
musculoskeletal system diseaseOpen Targets
0.26Weak
Abnormality of refractionOpen Targets
0.23Weak
Increased total eosinophil countOpen Targets
0.21Weak
ankylosing spondylitisOpen Targets
0.18Weak
Alzheimer diseaseOpen Targets
0.16Weak
Pathogenic Variants1
NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter)Likely pathogenic
Intellectual disability
β˜†β˜†β˜†β˜†β†’ Residue 271
View on ClinVar β†—
Related Genes
GRAMD2BProtein interaction78%GRAMD1CProtein interaction65%NPC1Protein interaction57%GRAMD1AShared pathway50%NPC2Shared pathway40%OSBPL1AShared pathway29%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
32%
Ovary
23%
Heart
11%
Lung
3%
Liver
2%
Gene Interaction Network
Click a node to explore
GRAMD1BGRAMD2BGRAMD1CNPC1GRAMD1ANPC2OSBPL1A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q3KR37
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.72LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.49 [0.34–0.72]
RankingsWhere GRAMD1B stands among ~20K protein-coding genes
  • #9,456of 20,598
    Most Researched45
  • #5,131of 5,498
    Most Pathogenic Variants1
  • #5,517of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedGRAMD1B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Aster-dependent nonvesicular transport facilitates dietary cholesterol uptake.
PMID: 37943936
Science Β· 2023
1.00
2
GRAMD1B is a regulator of lipid homeostasis, autophagic flux and phosphorylated tau.
PMID: 40204713
Nat Commun Β· 2025
0.90
3
NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress.
PMID: 31537798
Nat Commun Β· 2019
0.80
4
Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids.
PMID: 40537477
Transl Psychiatry Β· 2025
0.70
5
A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility.
PMID: 36553660
Genes (Basel) Β· 2022
0.60