Free for academic non-profit institutions. Other users need a Commercial license

FBP1 Gene(Protein Coding)

Fructose-Bisphosphatase 1

GCID:
GC09M094603
GIFtS:
70
Genes Participants
UDN Logo

Aliases for FBP1 Gene

Aliases for FBP1 Gene

  • Fructose-Bisphosphatase 1 2 3 5
  • D-Fructose-1,6-Bisphosphate 1-Phosphohydrolase 1 3 4
  • Fructose-1,6-Bisphosphatase 1 2 3
  • Liver FBPase 3 4
  • EC 3.1.3.11 4 61
  • FBPase 1 3 4
  • FBP 3 4
  • Growth-Inhibiting Protein 17 3
  • EC 3.1.3 61

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 Glucagon signaling pathway. 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 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBP1 Gene

Genomics for FBP1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for FBP1 Gene

Enhancers for FBP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G094970 1.2 Ensembl ENCODE 16 -332.7 -332675 4.3 MLX ARID4B DMAP1 YY1 SLC30A9 MIER2 KAT8 MIER3 SMARCA4 GLIS1 FBP1 LOC101928119 ZNF169 MIR6081
GH09G094602 1.1 Ensembl ENCODE 16.3 +36.2 36193 2.7 ELF3 ATF1 WRNIP1 ARID4B RAD21 ZEB1 RARA ZNF143 CREM ZNF654 FBP1 MFSD14B FBP2
GH09G094606 0.9 ENCODE 17.5 +32.1 32070 3.8 TBP FOXA2 MLX DMAP1 THRB RAD21 RARA YY1 SLC30A9 GATA4 FBP1 FBP2 ZNF169
GH09G094662 1.3 Ensembl ENCODE 11.6 -26.2 -26174 7.5 PKNOX1 ATF1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 TCF12 FBP1 FBP2 PIR42796
GH09G094647 1.7 FANTOM5 Ensembl ENCODE 8.4 -9.0 -8983 2.7 ARNT ARID4B SIN3A ZNF2 ZNF766 ZNF143 ZNF207 KLF13 ZNF263 ZHX2 LOC100132077 FBP1 ZNF169 C9orf3 MFSD14B PIR42796
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBP1 on UCSC Golden Path with GeneCards custom track

Promoters for FBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000238134 749 1001 GTF2F1 ESRRA SUZ12 TAF1 SIN3A MAX ZBTB7B E2F1 CTBP1 GATA3

Transcription factor binding sites by QIAGEN in the FBP1 gene promoter:

Genomic Location for FBP1 Gene

Chromosome:
9
Start:
94,603,133 bp from pter
End:
94,640,249 bp from pter
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:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FBP1 (FBPase)

Domains & Families for FBP1 Gene

Gene Families for FBP1 Gene

HGNC:

Protein Domains for FBP1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FBP1 Gene

GenScript: Design optimal peptide antigens:

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
  7. Flow Cytometry

Molecular function for FBP1 Gene

GENATLAS Biochemistry:
fructose 1,6-bisphosphatase,hepatic,expressed in liver,fructose metabolism,neoglucogenesis,energy pathway
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 CatalyticActivity:
D-fructose 1,6-bisphosphate + H(2)O = D-fructose 6-phosphate + phosphate.
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.
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 Induction:
Up-regulated in pancreatic islets of individuals with type 2 diabetes.

Enzyme Numbers (IUBMB) for FBP1 Gene

Gene Ontology (GO) - Molecular Function for FBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 8387495
GO:0016208 AMP binding IDA 8387495
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IEA --
GO:0042132 fructose 1,6-bisphosphate 1-phosphatase activity TAS --
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

miRNA for FBP1 Gene

miRTarBase miRNAs that target FBP1

Inhibitory RNA Products

Flow Cytometry Products

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
extracellular 5
cytosol 5
nucleus 2
lysosome 1

Gene Ontology (GO) - Cellular Components for FBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 20096900
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 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 Cell Signaling Technology pathway for FBP1 Gene
1 GeneGo (Thomson Reuters) 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:0005975 carbohydrate metabolic process IEA --
GO:0005986 sucrose biosynthetic process IBA --
GO:0006000 fructose metabolic process TAS 7558035
GO:0006002 fructose 6-phosphate metabolic process IDA 8387495
GO:0006094 gluconeogenesis TAS --
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

(16) 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 Nutra Target, antagonist, inhibitory allosteric modulator 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
{4-[3-(6,7-Diethoxy-Quinazolin-4-Ylamino)-Phenyl]-Thiazol-2-Yl}-Methanol Experimental Pharma Target 0
2,5-Anhydroglucitol-1,6-Biphosphate Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-D-Fructose 1,6-bisphosphate
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
Fructose 1,6-bisphosphate
  • D-Fructose 1,6-biphosphate
  • D-Fructose 1,6-bis(dihydrogen phosphate)
  • D-Fructose 1,6-bisphosphate
  • D-Fructose 1,6-diphosphate
  • D-Fructose-1,6-bisphosphate
 488-69-7
Fructose 6-phosphate
  • D-Fructose 6-phosphate
  • D-Fructose 6-phosphorate
  • D-Fructose 6-phosphoric acid
  • D-Fructose-6-P
  • D-Fructose-6-phosphate
 643-13-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
 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
  5. Flow Cytometry

mRNA/cDNA for FBP1 Gene

(3) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(173) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FBP1 Gene

Fructose-1,6-bisphosphatase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
FBP1

Expression for FBP1 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for FBP1 Gene
mRNA expression by BioGPS for FBP1 GenemRNA expression by GTEx 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, PaxDb, MaxQB, and MOPED for FBP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of FBP1 Gene:

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

  • Liver(4.7)
  • Lung(4.7)
  • Kidney(4.6)
  • Blood(4.2)

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
Organs:
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

Primer Products

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 34 35
  • 99.31 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 90 (a)
 ManyToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 35
  • 89 (a)
 OneToMany
-- 35
  • 70 (a)
 OneToMany
-- 35
  • 63 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia FBP1 34 35
  • 87.18 (n)
cow
(Bos Taurus)
 Mammalia FBP1 34 35
  • 85.11 (n)
rat
(Rattus norvegicus)
 Mammalia Fbp1 34
  • 83.83 (n)
mouse
(Mus musculus)
 Mammalia Fbp1 34 16 35
  • 83.63 (n)
chicken
(Gallus gallus)
 Aves FBP1 34 35
  • 74.36 (n)
lizard
(Anolis carolinensis)
 Reptilia FBP1 35
  • 70 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fbp1 34
  • 72.78 (n)
MGC75708 34
African clawed frog
(Xenopus laevis)
 Amphibia fbp-prov 34
zebrafish
(Danio rerio)
 Actinopterygii fbp1b 35
  • 80 (a)
 OneToMany
fbp1a 34 35
  • 73.23 (n)
wufk92h02 34
fruit fly
(Drosophila melanogaster)
 Insecta fbp 36 35
  • 64 (a)
worm
(Caenorhabditis elegans)
 Secernentea fbp-1 35
  • 59 (a)
 OneToMany
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR593C 34
  • 57.34 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E01211g 34
  • 52.73 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes FBP1 34 35 37
  • 52.17 (n)
soybean
(Glycine max)
 eudicotyledons Gma.2522 34
barley
(Hordeum vulgare)
 Liliopsida Hv.5733 34
rice
(Oryza sativa)
 Liliopsida Os.11756 34
bread mold
(Neurospora crassa)
 Ascomycetes NCU04797 34
  • 57.23 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes fbp1 34
  • 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 squirt (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)

Paralogs for FBP1 Gene

Paralogs for FBP1 Gene

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

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

Variants for FBP1 Gene

Sequence variations from dbSNP and Humsavar for FBP1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs121918188 Pathogenic, Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700] 94,609,998(-) CAGCC(A/G)GCTAC reference, missense
rs121918189 Pathogenic, Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700] 94,609,958(-) CCTTG(A/C/T)CATGG reference, missense
rs121918191 Pathogenic, Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700] 94,606,939(-) GGAGT(C/T)CATTT reference, missense
rs121918192 Pathogenic, Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700] 94,603,547(-) CAACC(C/G)CATGG reference, missense
rs766005419 Fructose-1,6-bisphosphatase deficiency (FBP1D) [MIM:229700] 94,610,016(+) GTTCC(A/G)GCCTG reference, missense

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)

Relevant External Links for FBP1 Gene

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

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

Disorders for FBP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
fructose-1,6-bisphosphatase deficiency
  • fructose 1 phosphate aldolase deficiency
hypoglycemia
  • hypoglycaemia
metabolic acidosis
- 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

Relevant External Links for FBP1

Genetic Association Database (GAD)
FBP1
Human Genome Epidemiology (HuGE) Navigator
FBP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBP1
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 Med. Genet. 2008) 3 22 46 64
  2. Benzoxazole benzenesulfonamides are novel allosteric inhibitors of fructose-1,6-bisphosphatase with a distinct binding mode. (PMID: 16442285) von Geldern T.W. … Abad-Zapatero C. (Bioorg. Med. Chem. Lett. 2006) 3 4 22 64
  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 M.R. … Pilkis S.J. (Genomics 1995) 3 4 22 64
  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 M.R. … Pilkis S.J. (J. Biol. Chem. 1993) 2 3 4 64
  5. Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. (PMID: 25601412) Lebigot E. … Boutron A. (J. Inherit. Metab. Dis. 2015) 3 4 64

Products for FBP1 Gene

Sources for FBP1 Gene

Content
Loading form....