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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FBP1
fructose-bisphosphatase 1
Chromosome 9 Β· 9q22.32
NCBI Gene: 2203Ensembl: ENSG00000165140.13HGNC: HGNC:3606UniProt: P09467
143PubMed Papers
21Diseases
0Drugs
57Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cellular response to magnesium ioncellular response to xenobiotic stimulusmetal ion bindingnegative regulation of glycolytic processfructose-1,6-bisphosphatase deficiencydisorder of glycogen metabolismGlycogen storage disease due to glycogenin deficiencygenetic disorder
✦AI Summary

FBP1 (fructose-1,6-bisphosphatase 1) is a key gluconeogenic enzyme that catalyzes the conversion of fructose 1,6-bisphosphate to fructose 6-phosphate, serving as a rate-limiting step in gluconeogenesis 1. Beyond its enzymatic function, FBP1 acts as a critical tumor suppressor through multiple mechanisms. It forms a complex with AKT, PP2A-C, and aldolase B to prevent insulin hyperresponsiveness by accelerating AKT dephosphorylation, maintaining glucose and lipid homeostasis 1. FBP1 also directly dephosphorylates telomerase reverse transcriptase (TERT) at Ser227, inhibiting telomerase activity and promoting cellular senescence 2. In hepatocellular carcinoma (HCC), FBP1 is universally silenced and functions as a metabolic tumor suppressor 3. Loss of FBP1 promotes HCC evolution from senescent hepatocytes by enabling AKT and NRF2 activation, which accelerates p53 degradation and enhances proliferation of cancer progenitor cells 4. FBP1 deficiency also disrupts liver metabolism, promoting hepatic stellate cell activation and creating a pro-tumorigenic microenvironment 3. Additionally, FBP1 plays roles in immune regulation, with elevated expression in macrophages supporting granuloma formation in sarcoidosis 5 and enabling glyconeogenesis in inflammatory macrophages 6.

Sources cited
1
FBP1 catalyzes gluconeogenesis and forms complexes to prevent insulin hyperresponsiveness
PMID: 37084733
2
FBP1 dephosphorylates TERT to inhibit telomerase activity and promote senescence
PMID: 38538923
3
FBP1 is silenced in liver tumors and acts as a metabolic tumor suppressor
PMID: 32367049
4
FBP1 loss promotes HCC evolution from senescent hepatocytes through AKT/NRF2 activation
PMID: 39743585
5
FBP1 expression is elevated in macrophages during granuloma formation in sarcoidosis
PMID: 38038136
6
FBP1 enables glyconeogenesis in inflammatory macrophages
PMID: 39424955
Disease Associationsβ“˜21
fructose-1,6-bisphosphatase deficiencyOpen Targets
0.82Strong
disorder of glycogen metabolismOpen Targets
0.50Moderate
Glycogen storage disease due to glycogenin deficiencyOpen Targets
0.50Moderate
genetic disorderOpen Targets
0.41Moderate
multinodular goiterOpen Targets
0.31Weak
Alzheimer diseaseOpen Targets
0.30Weak
anxiety disorderOpen Targets
0.29Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.25Weak
diabetes mellitusOpen Targets
0.20Weak
type 2 diabetes mellitusOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.12Weak
Abnormality of acid-base homeostasisOpen Targets
0.12Weak
Impaired gluconeogenesisOpen Targets
0.12Weak
schizophreniaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.11Weak
nonpapillary renal cell carcinomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
Fructose-1,6-bisphosphatase deficiencyUniProt
Pathogenic Variants57
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)Pathogenic
Fructose-biphosphatase deficiency|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 321
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)Pathogenic
Fructose-biphosphatase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 164
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)Pathogenic
Fructose-biphosphatase deficiency|FBP1-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 260
NM_000507.4(FBP1):c.426+1G>APathogenic
Fructose-biphosphatase deficiency
β˜…β˜…β˜†β˜†2025
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)Pathogenic
Fructose-biphosphatase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 281
NM_000507.4(FBP1):c.616_619del (p.Lys206fs)Pathogenic
Deficiency of fructose-bisphosphatase|Fructose-biphosphatase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 206
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)Pathogenic
Fructose-biphosphatase deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 158
NM_000507.4(FBP1):c.427-2A>GLikely pathogenic
Fructose-biphosphatase deficiency
β˜…β˜…β˜†β˜†2024
NM_000507.4(FBP1):c.704del (p.Pro235fs)Pathogenic
Fructose-biphosphatase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 235
NM_000507.4(FBP1):c.841G>T (p.Glu281Ter)Pathogenic
Fructose-biphosphatase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 281
NM_000507.4(FBP1):c.392del (p.Val131fs)Pathogenic
Fructose-biphosphatase deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 131
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)Pathogenic
Fructose-biphosphatase deficiency|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 204
NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs)Pathogenic
not provided|Fructose-biphosphatase deficiency|FBP1-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 321
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn)Pathogenic
not provided|Fructose-biphosphatase deficiency
β˜…β˜…β˜†β˜†2022β†’ Residue 119
NM_000507.4(FBP1):c.344T>G (p.Val115Gly)Likely pathogenic
Glycogen storage disease
β˜…β˜†β˜†β˜†2026β†’ Residue 115
NM_000507.4(FBP1):c.582_585del (p.Ile195fs)Pathogenic
Fructose-biphosphatase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 195
NM_000507.4(FBP1):c.723T>G (p.Tyr241Ter)Pathogenic
Fructose-biphosphatase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 241
NM_000507.4(FBP1):c.639C>G (p.Asn213Lys)Likely pathogenic
Fructose-biphosphatase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 213
NM_000507.4(FBP1):c.881G>T (p.Gly294Val)Likely pathogenic
Fructose-biphosphatase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 294
NM_000507.4(FBP1):c.259A>T (p.Lys87Ter)Likely pathogenic
Fructose-biphosphatase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 87
View on ClinVar β†—
Related Genes
GID4Protein interaction100%PCProtein interaction99%PFKMProtein interaction98%ACOT1Protein interaction98%HK2Protein interaction98%MDH2Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Lung
12%
Bone Marrow
4%
Brain
2%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
FBP1GID4PCPFKMACOT1HK2MDH2
PROTEIN STRUCTURE
Preparing viewer…
PDB7WJV Β· 1.72 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.59–1.16]
RankingsWhere FBP1 stands among ~20K protein-coding genes
  • #3,195of 20,598
    Most Researched143 Β· top quartile
  • #1,211of 5,498
    Most Pathogenic Variants57 Β· top quartile
  • #12,058of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedFBP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Metabolic dysregulation and emerging therapeutical targets for hepatocellular carcinoma.
PMID: 35256934
Acta Pharm Sin B Β· 2022
1.00
2
FBP1 controls liver cancer evolution from senescent MASH hepatocytes.
PMID: 39743585
Nature Β· 2025
0.90
3
Fructose-1,6-bisphosphatase is a nonenzymatic safety valve that curtails AKT activation to prevent insulin hyperresponsiveness.
PMID: 37084733
Cell Metab Β· 2023
0.80
4
Fructose-1,6-bisphosphatase 1 dephosphorylates and inhibits TERT for tumor suppression.
PMID: 38538923
Nat Chem Biol Β· 2024
0.70
5
FBP1 loss disrupts liver metabolism and promotes tumorigenesis through a hepatic stellate cell senescence secretome.
PMID: 32367049
Nat Cell Biol Β· 2020
0.60