Gene Gene information from NCBI Gene database.
Entrez ID 2203
Gene name Fructose-bisphosphatase 1
Gene symbol FBP1
Synonyms (NCBI Gene)
FBP
Chromosome 9
Chromosome location 9q22.32
Summary Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic
SNPs SNP information provided by dbSNP.
27
SNP ID Visualize variation Clinical significance Consequence
rs111437558 C>G,T Pathogenic Splice donor variant
rs121918188 C>T Pathogenic Coding sequence variant, missense variant
rs121918189 G>A,T Pathogenic Coding sequence variant, missense variant
rs121918190 C>A,T Pathogenic Coding sequence variant, missense variant, stop gained, intron variant
rs121918191 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
64
miRTarBase ID miRNA Experiments Reference
MIRT732692 hsa-miR-18a-5p ImmunofluorescenceImmunohistochemistry (IHC)Luciferase reporter assayWestern blotting 33557774
MIRT732927 hsa-miR-21-3p ImmunofluorescenceImmunohistochemistry (IHC)Luciferase reporter assayRNA-seq 34221869
MIRT732927 hsa-miR-21-3p ImmunofluorescenceImmunohistochemistry (IHC)Luciferase reporter assayRNA-seq 34221869
MIRT990135 hsa-miR-1207-5p CLIP-seq
MIRT990136 hsa-miR-1256 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
NFKB1 Unknown 11023824
RELA Unknown 11023824
SP1 Unknown 11023824
SP3 Unknown 11023824
USF1 Unknown 11023824
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 25043030
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 8387495, 10222032, 16189514, 16275660, 25043030, 25416956, 25910212, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005615 Component Extracellular space IEA
GO:0005634 Component Nucleus IMP 25043030
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611570 3606 ENSG00000165140
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09467
Protein name Fructose-1,6-bisphosphatase 1 (FBPase 1) (EC 3.1.3.11) (D-fructose-1,6-bisphosphate 1-phosphohydrolase 1) (Liver FBPase)
Protein function Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations, acting as a rate-limiting enzyme in gluconeogenesis. Plays a role in regulating glucose sensing and insulin secretion of pancreati
PDB 1FTA , 2FHY , 2FIE , 2FIX , 2JJK , 2VT5 , 2WBB , 2WBD , 2Y5K , 2Y5L , 3A29 , 3KBZ , 3KC0 , 3KC1 , 4MJO , 5LDZ , 5PZQ , 5PZR , 5PZS , 5PZT , 5PZU , 5PZV , 5PZW , 5PZX , 5PZY , 5PZZ , 5Q00 , 5Q01 , 5Q02 , 5Q03 , 5Q04 , 5Q05 , 5Q06 , 5Q07 , 5Q08 , 5Q09 , 5Q0A , 5Q0B , 6LS5 , 6LW2 , 7C9Q , 7CVH , 7CVN , 7CWE , 7EZF , 7EZP , 7EZR , 7WJV , 7WVB , 8XBK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00316 FBPase 12 199 Fructose-1-6-bisphosphatase, N-terminal domain Domain
PF18913 FBPase_C 203 333 Fructose-1-6-bisphosphatase, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in pancreatic islets. {ECO:0000269|PubMed:18375435}.
Sequence
Sequence length 338
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Pentose phosphate pathway
Fructose and mannose metabolism
Metabolic pathways
Carbon metabolism
AMPK signaling pathway
Insulin signaling pathway
Glucagon signaling pathway
  Gluconeogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
FBP1-related disorder Pathogenic; Likely pathogenic rs1057517733, rs780803192 RCV003922670
RCV003918122
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fructose-biphosphatase deficiency Pathogenic; Likely pathogenic rs1563983184, rs2131486442, rs2131509216, rs757653154, rs121918188, rs121918189, rs121918190, rs121918191, rs121918192, rs1460544928, rs780528686, rs758609113, rs2538947228, rs762007074, rs2538965763
View all (27 more)
RCV001783266
RCV001783267
RCV001994826
RCV000000915
RCV000000916
View all (40 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormality of acid-base homeostasis Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 26549536, 37507476, 38111981 Associate
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 27599538
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37386009 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia Hemolytic Hemolytic anemia Pubtator 14766013 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Hemolytic Anemia BEFREE 14766013
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28720574, 31497353
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita BEFREE 14766013
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 27599538
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27780144, 28485159, 28529559, 28653874, 29463261
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28653874, 32626933, 32927665, 34092577 Associate
★☆☆☆☆
Found in Text Mining only