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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FITM1
fat storage inducing transmembrane protein 1
Chromosome 14 · 14q12
NCBI Gene: 161247Ensembl: ENSG00000139914.7HGNC: HGNC:33714UniProt: A5D6W6
4PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lipid droplet formationfat cell differentiationendoplasmic reticulum membranetriglyceride bindinghepatocellular carcinomaneoplasmcardiomyopathychronic obstructive pulmonary disease
✦AI Summary

FITM1 (fat storage inducing transmembrane protein 1) is a six-transmembrane domain protein localized to the endoplasmic reticulum that plays a crucial role in lipid droplet formation and triglyceride storage 1. The protein mediates the partitioning of cellular triglycerides into lipid droplets without affecting triglyceride biosynthesis itself 1. FITM1 expression is transcriptionally regulated by peroxisome proliferator-activated receptors (PPARs), linking lipid uptake to cellular lipid storage capacity 2. In skeletal muscle cells, FITM1 is upregulated by PGC-1α and contributes to the formation of smaller, more numerous lipid droplets while modestly increasing triglyceride levels 3. The protein shows tissue-specific expression patterns, being downregulated in pancreatic cancer where it serves as a prognostic marker associated with overall survival 4. FITM1 levels are also decreased in frequent exacerbation phenotypes of COPD, suggesting potential diagnostic utility 5. Additionally, FITM1 expression is reduced following ovariectomy in mice, indicating hormonal regulation 6. The protein represents a potential therapeutic target for nonalcoholic fatty liver disease due to its central role in lipid droplet biology and metabolism 7.

Sources cited
1
FITM1 is a six-transmembrane domain ER protein that mediates triglyceride partitioning into lipid droplets
PMID: 20520733
2
FITM1 is transcriptionally regulated by PPARs, linking lipid storage capacity to lipid uptake
PMID: 28735095
3
FITM1 is upregulated by PGC-1α in skeletal muscle and affects lipid droplet formation
PMID: 22272266
4
FITM1 is downregulated in pancreatic cancer and serves as a prognostic survival marker
PMID: 34078402
5
FITM1 levels are decreased in frequent exacerbation COPD phenotypes
PMID: 37581107
6
FITM1 expression is reduced following ovariectomy in mice
PMID: 35364299
7
FITM1 represents a potential therapeutic target for NAFLD due to its role in lipid droplet biology
PMID: 24222089
Disease Associationsⓘ20
hepatocellular carcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
cardiomyopathyOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
metabolic diseaseOpen Targets
0.00Suggestive
heart failureOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
muscular dystrophyOpen Targets
0.00Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
diabetic nephropathyOpen Targets
0.00Suggestive
endometriosisOpen Targets
0.00Suggestive
lymphomaOpen Targets
0.00Suggestive
OsteopeniaOpen Targets
0.00Suggestive
T-cell non-Hodgkin lymphomaOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BSCL2Shared pathway57%FITM2Shared pathway46%ADIGShared pathway38%LDAHShared pathway25%AUP1Shared pathway25%PISDShared pathway22%
Tissue Expression6 tissues
Heart
100%
Liver
26%
Lung
3%
Ovary
2%
Brain
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
FITM1BSCL2FITM2ADIGLDAHAUP1PISD
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A5D6W6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.05Tolerant
Observed/Expected LoF0.49 [0.31–0.81]
RankingsWhere FITM1 stands among ~20K protein-coding genes
  • #18,564of 20,598
    Most Researched4
  • #6,886of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedFITM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of prognostic lipid droplet-associated genes in pancreatic cancer patients via bioinformatics analysis.
PMID: 34078402
Lipids Health Dis · 2021
1.00
2
Plasma Proteomics Study Between the Frequent Exacerbation and Infrequent Exacerbation Phenotypes of Chronic Obstructive Pulmonary Disease.
PMID: 37581107
Int J Chron Obstruct Pulmon Dis · 2023
0.90
3
The lipid droplet as a potential therapeutic target in NAFLD.
PMID: 24222089
Semin Liver Dis · 2013
0.80
4
Regulation of lipid droplet-associated proteins by peroxisome proliferator-activated receptors.
PMID: 28735095
Biochim Biophys Acta Mol Cell Biol Lipids · 2017
0.70
5
Hepatic adropin is regulated by estrogen and contributes to adverse metabolic phenotypes in ovariectomized mice.
PMID: 35364299
Mol Metab · 2022
0.60