FBP1 Gene (Protein Coding)

Fructose-Bisphosphatase 1

GC09M094603
GIFtS:
50
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 acidosis. [provided by RefSeq, Jul 2008] See more...

Aliases for FBP1 Gene

Aliases for FBP1 Gene

  • Fructose-Bisphosphatase 1 2 3 5
  • Fructose-1,6-Bisphosphatase 1 2 3 4
  • D-Fructose-1,6-Bisphosphate 1-Phosphohydrolase 1 3 4
  • Liver FBPase 3 4
  • EC 3.1.3.11 4 51
  • FBPase 1 3 4
  • FBP 3 4
  • Growth-Inhibiting Protein 17 3
  • EC 3.1.3 51
  • FBP1 5

External Ids for FBP1 Gene

Previous HGNC Symbols for FBP1 Gene

  • FBP

Previous GeneCards Identifiers for FBP1 Gene

  • GC09M088192
  • GC09M089093
  • GC09M090664
  • GC09M092706
  • GC09M094444
  • GC09M096405
  • GC09M097365
  • GC09M066974

Summaries for FBP1 Gene

Entrez Gene Summary for FBP1 Gene

  • 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 acidosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBP1 Gene

FBP1 (Fructose-Bisphosphatase 1) is a Protein Coding gene. Diseases associated with FBP1 include Fructose-1,6-Bisphosphatase Deficiency and Hypoglycemia. Among its related pathways are Glucose metabolism and Fructose and mannose metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and phosphoric ester hydrolase activity. An important paralog of this gene is FBP2.

UniProtKB/Swiss-Prot Summary for FBP1 Gene

  • 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 pancreatic beta-cells. Appears to modulate glycerol gluconeogenesis in liver. Important regulator of appetite and adiposity; increased expression of the protein in liver after nutrient excess increases circulating satiety hormones and reduces appetite-stimulating neuropeptides and thus seems to provide a feedback mechanism to limit weight gain.

Additional gene information for FBP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBP1 Gene

Genomics for FBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH09J094636 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE 610.8 +1.9 1862 4.4 CREB1 REST TARDBP ZIC2 SP1 EZH2 GTF2F1 ZFX ZNF512B ESR1 FBP1 HSALNG0072929 FBP2 AOPEP ZNF169 lnc-FBP1-1 piR-50444-481
GH09J094606 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 17.5 +32.1 32083 3.8 HNRNPL REST RXRB SP1 GABPA FOXK2 MNT SOX13 FOXA2 YY1 FBP1 FBP2 ZNF169 RF00017-7728
GH09J094970 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 16 -332.9 -332937 6.8 GATAD2A REST TFE3 SOX13 RCOR2 FOXA1 ZIC2 RXRB IRF2 SP1 FBP1 ENSG00000224764 AOPEP ZNF169 ENSG00000285807 RF00017-7731 FANCC
GH09J094726 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.4 -86.7 -86697 2.1 SP1 CREB1 GATAD2A ATF7 TEAD4 ZNF629 TFE3 RFX1 ZNF692 POLR2A AOPEP ENSG00000288023 FBP1 RF00017-7730 FANCC
GH09J094602 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 16.4 +36.2 36207 2.7 CREB1 GATAD2A CTCF TEAD4 ZNF629 JUND ZNF143 REST RAD21 RCOR1 FBP1 MFSD14B FBP2 RF00017-7728 PCAT7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBP1

Top Transcription factor binding sites by QIAGEN in the FBP1 gene promoter:
  • AP-1
  • TBP
  • TFIID

Genomic Locations for FBP1 Gene

Genomic Locations for FBP1 Gene
chr9:94,603,133-94,640,263
(GRCh38/hg38)
Size:
37,131 bases
Orientation:
Minus strand
chr9:97,365,415-97,402,531
(GRCh37/hg19)
Size:
37,117 bases
Orientation:
Minus strand

Genomic View for FBP1 Gene

Genes around FBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FBP1 Gene

Proteins for FBP1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for FBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09467-F16P1_HUMAN
    Recommended name:
    Fructose-1,6-bisphosphatase 1
    Protein Accession:
    P09467
    Secondary Accessions:
    • O75571
    • Q53F94
    • Q96E46

    Protein attributes for FBP1 Gene

    Size:
    338 amino acids
    Molecular mass:
    36842 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=AAC50207.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FBP1 Gene

neXtProt entry for FBP1 Gene

Protein Expression for FBP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for FBP1 Gene

P09467:
  • GGIFLYP
  • KLDVLSN
  • SPNGKLR
  • QRKKFPPDNSAPYG
  • DPLDGSS
  • DPLDGSSN
  • SLNEGYAK
  • GTGELTQLLNS
  • HRTLVYGGIF
  • AGYALYG
  • GTIFGIY
  • VKIKKKG
  • TCVLVSEE
  • GKLRLLYE
  • NEGYAKDFDPA
  • PYGARYVGS

Post-translational modifications for FBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FBP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for FBP1 Gene

Gene Families for FBP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for FBP1 Gene

InterPro:
Blocks:
  • Inositol phosphatase/fructose-1,6-bisphosphatase
ProtoNet:

Suggested Antigen Peptide Sequences for FBP1 Gene

GenScript: Design optimal peptide antigens:
  • D-fructose-1,6-bisphosphate 1-phosphohydrolase 1 (F16P1_HUMAN)
  • cDNA FLJ75786, highly similar to Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), mRNA (Q2TU34_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P09467

UniProtKB/Swiss-Prot:

F16P1_HUMAN :
  • Belongs to the FBPase class 1 family.
Family:
  • Belongs to the FBPase class 1 family.
genes like me logo Genes that share domains with FBP1: view

Function for FBP1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for FBP1 Gene

UniProtKB/Swiss-Prot 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 pancreatic beta-cells. Appears to modulate glycerol gluconeogenesis in liver. Important regulator of appetite and adiposity; increased expression of the protein in liver after nutrient excess increases circulating satiety hormones and reduces appetite-stimulating neuropeptides and thus seems to provide a feedback mechanism to limit weight gain.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=beta-D-fructose 1,6-bisphosphate + H2O = beta-D-fructose 6-phosphate + phosphate; Xref=Rhea:RHEA:11064, ChEBI:CHEBI:15377, ChEBI:CHEBI:32966, ChEBI:CHEBI:43474, ChEBI:CHEBI:57634; EC=3.1.3.11; Evidence={ECO:0000269|PubMed:17350621, ECO:0000269|PubMed:8387495};.
UniProtKB/Swiss-Prot Induction:
Up-regulated in pancreatic islets of individuals with type 2 diabetes.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.7 uM for fructose 1,6-biphosphate {ECO:0000269|PubMed:17350621}; Note=The kinetic constants are determined for the recombinant enzyme expressed in E.coli.;
UniProtKB/Swiss-Prot EnzymeRegulation:
Subject to complex allosteric regulation. The enzyme can assume an active R-state, or an inactive T-state. Intermediate conformations may exist. AMP acts as allosteric inhibitor. AMP binding affects the turnover of bound substrate and not the affinity for substrate. Fructose 2,6-bisphosphate acts as competitive inhibitor. Fructose 2,6-bisphosphate and AMP have synergistic effects.
GENATLAS Biochemistry:
fructose 1,6-bisphosphatase,hepatic,expressed in liver,fructose metabolism,neoglucogenesis,energy pathway

Enzyme Numbers (IUBMB) for FBP1 Gene

Phenotypes From GWAS Catalog for FBP1 Gene

Gene Ontology (GO) - Molecular Function for FBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001085 RNA polymerase II transcription factor binding IMP 25043030
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 8387495
GO:0016208 AMP binding IDA 8387495
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with FBP1: view
genes like me logo Genes that share phenotypes with FBP1: view

Human Phenotype Ontology for FBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for FBP1 Gene

miRTarBase miRNAs that target FBP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBP1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for FBP1 Gene

Localization for FBP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBP1 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IMP 25043030
GO:0005737 cytoplasm IBA,IDA 20096900
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with FBP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FBP1 Gene

Pathways & Interactions for FBP1 Gene

genes like me logo Genes that share pathways with FBP1: view

Pathways by source for FBP1 Gene

1 GeneGo (Thomson Reuters) pathway for FBP1 Gene
  • Glycolysis and gluconeogenesis (short map)
1 Cell Signaling Technology pathway for FBP1 Gene

UniProtKB/Swiss-Prot P09467-F16P1_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

Gene Ontology (GO) - Biological Process for FBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 25043030
GO:0005975 carbohydrate metabolic process IEA --
GO:0005986 sucrose biosynthetic process IBA 21873635
GO:0006000 fructose metabolic process TAS,IBA 21873635
GO:0006002 fructose 6-phosphate metabolic process IDA 8387495
genes like me logo Genes that share ontologies with FBP1: view

No data available for SIGNOR curated interactions for FBP1 Gene

Drugs & Compounds for FBP1 Gene

Products:

  1. Drug

(18) Drugs for FBP1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra Target, antagonist, inhibitory allosteric modulator 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Fructose 6-phosphate Experimental Pharma Target 0
{4-[3-(6,7-Diethoxy-Quinazolin-4-Ylamino)-Phenyl]-Thiazol-2-Yl}-Methanol Experimental Pharma Target 0

(4) Additional Compounds for FBP1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Beta-D-Fructose 6-phosphate
  • 6-O-phosphono-beta-D-Fructofuranose
  • FRUCTOSE-6-phosphATE
  • 6-O-phosphono-b-D-Fructofuranose
  • 6-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 6-phosphate
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
 14066-19-4, 14265-44-2

(1) ApexBio Compounds for FBP1 Gene

Compound Action Cas Number
MB05032 GNG inhibitor,special and efficacious 261365-11-1
genes like me logo Genes that share compounds with FBP1: view

Transcripts for FBP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FBP1 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBP1

Alternative Splicing Database (ASD) splice patterns (SP) for FBP1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c
SP1: - -
SP2: -
SP3: - -
SP4: -
SP5:

Relevant External Links for FBP1 Gene

GeneLoc Exon Structure for
FBP1

Expression for FBP1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBP1 Gene

mRNA expression in normal human tissues for FBP1 Gene
mRNA expression by GTEx for FBP1 GenemRNA expression by BioGPS for FBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBP1 Gene

This gene is overexpressed in Liver (x22.2) and Kidney - Cortex (x5.7).

Protein differential expression in normal tissues from HIPED for FBP1 Gene

This gene is overexpressed in Liver, secretome (32.0) and Liver (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FBP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBP1

SOURCE GeneReport for Unigene cluster for FBP1 Gene:

Hs.494496

mRNA Expression by UniProt/SwissProt for FBP1 Gene:

P09467-F16P1_HUMAN
Tissue specificity: Expressed in pancreatic islets.

Evidence on tissue expression from TISSUES for FBP1 Gene

  • Lung(4.8)
  • Liver(4.8)
  • Kidney(4.7)
  • Blood(4.5)
  • Pancreas(2.4)
  • Intestine(2.4)
  • Stomach(2.3)
  • Nervous system(2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FBP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • diaphragm
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with FBP1: view

No data available for Protein tissue co-expression partners for FBP1 Gene

Orthologs for FBP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FBP1 30 31
  • 99.31 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 90 (a)
 ManyToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 89 (a)
 OneToMany
-- 31
  • 70 (a)
 OneToMany
-- 31
  • 63 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia FBP1 30 31
  • 87.18 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FBP1 30 31
  • 85.11 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Fbp1 30
  • 83.83 (n)
Mouse
(Mus musculus)
 Mammalia Fbp1 30 17 31
  • 83.63 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves FBP1 30 31
  • 74.36 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia FBP1 31
  • 70 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia fbp1 30
  • 72.78 (n)
MGC75708 30
African clawed frog
(Xenopus laevis)
 Amphibia fbp-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii fbp1b 31
  • 80 (a)
 OneToMany
fbp1a 30 31
  • 73.23 (n)
 OneToMany
wufk92h02 30
Fruit Fly
(Drosophila melanogaster)
 Insecta fbp 31 32
  • 59 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea fbp-1 31
  • 59 (a)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AFR593C 30
  • 57.34 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E01211g 30
  • 52.73 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes FBP1 30 31 33
  • 52.17 (n)
 OneToMany
Soybean
(Glycine max)
 eudicotyledons Gma.2522 30
Barley
(Hordeum vulgare)
 Liliopsida Hv.5733 30
Rice
(Oryza sativa)
 Liliopsida Os.11756 30
Bread mold
(Neurospora crassa)
 Ascomycetes NCU04797 30
  • 57.23 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes fbp1 30
  • 50.21 (n)
Species where no ortholog for FBP1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FBP1 Gene

ENSEMBL:
Gene Tree for FBP1 (if available)
TreeFam:
Gene Tree for FBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBP1: view image

Paralogs for FBP1 Gene

Paralogs for FBP1 Gene

(1) SIMAP similar genes for FBP1 Gene using alignment to 3 proteins:

  • F16P1_HUMAN
  • Q2TU34_HUMAN
  • Q5VZC3_HUMAN
genes like me logo Genes that share paralogs with FBP1: view

Variants for FBP1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBP1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
658878 Uncertain Significance: Fructose-biphosphatase deficiency 94,603,421(-) A/G MISSENSE_VARIANT
715417 Likely Benign: not provided 94,620,356(-) G/A SYNONYMOUS_VARIANT
725525 Likely Benign: not provided 94,620,353(-) G/T SYNONYMOUS_VARIANT
727587 Likely Benign: not provided 94,605,505(-) G/A SYNONYMOUS_VARIANT
738199 Likely Benign: not provided 94,610,069(-) A/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for FBP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FBP1 Gene

Variant ID Type Subtype PubMed ID
esv2668617 CNV deletion 23128226
esv2738800 CNV deletion 23290073
esv3545146 CNV deletion 23714750
esv3576685 CNV gain 25503493
esv3621113 CNV gain 21293372
esv3621134 CNV loss 21293372
nsv1147999 OTHER inversion 26484159
nsv415436 CNV deletion 16902084
nsv466436 CNV loss 19166990
nsv614917 CNV loss 21841781
nsv614918 CNV gain 21841781

Variation tolerance for FBP1 Gene

Residual Variation Intolerance Score: 50.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBP1 Gene

Human Gene Mutation Database (HGMD)
FBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBP1 Gene

Disorders for FBP1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FBP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FBP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

F16P1_HUMAN
  • Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700]: An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, and episodes of hypoglycemia and metabolic acidosis that can be lethal in newborn infants or young children. {ECO:0000269 PubMed:12126934, ECO:0000269 PubMed:25601412, ECO:0000269 PubMed:9382095}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for FBP1 Gene

episodic spells of hyperventilation,apnea,hypoglycemia,metabolic acidosis and lactic acidosis with a risk of lethal course in the newborn

Additional Disease Information for FBP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FBP1: view

Publications for FBP1 Gene

  1. The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples. (PMID: 18460190) Olsen L … Werge T (BMC medical genetics 2008) 3 23 41
  2. Benzoxazole benzenesulfonamides are novel allosteric inhibitors of fructose-1,6-bisphosphatase with a distinct binding mode. (PMID: 16442285) von Geldern TW … Abad-Zapatero C (Bioorganic & medicinal chemistry letters 2006) 3 4 23
  3. Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency. (PMID: 7558035) el-Maghrabi MR … Baker L (Genomics 1995) 3 4 23
  4. Isolation of a human liver fructose-1,6-bisphosphatase cDNA and expression of the protein in Escherichia coli. Role of ASP-118 and ASP-121 in catalysis. (PMID: 8387495) el-Maghrabi MR … Pilkis SJ (The Journal of biological chemistry 1993) 2 3 4
  5. Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. (PMID: 25601412) Lebigot E … Boutron A (Journal of inherited metabolic disease 2015) 3 4

ExternalLinks

View latest publications for FBP1 gene in Mastermind

Products for FBP1 Gene

Sources for FBP1 Gene