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FBP1 Gene

protein-coding   GIFtS: 70
GCID: GC09M097365

Fructose-1,6-Bisphosphatase 1


(Previous symbol: FBP)
  See FBP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Fructose-1,6-Bisphosphatase 11 2     EC 3.1.3.113 8
FBP1 2 3     Fructose-Bisphosphatase 12
D-Fructose-1,6-Bisphosphate 1-Phosphohydrolase 12 3     Growth-Inhibiting Protein 172
FBPase 12 3     EC 3.1.38

External Ids:    HGNC: 36061   Entrez Gene: 22032   Ensembl: ENSG000001651407   OMIM: 6115705   UniProtKB: P094673   

Export aliases for FBP1 gene to outside databases

Previous GC identifers: GC09M088192 GC09M089093 GC09M090664 GC09M092706 GC09M094444 GC09M096405 GC09M066974


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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-1,6-bisphosphatase 1) is a protein-coding gene. Diseases associated with FBP1 include metabolic acidosis, and fructose-1,6-bisphosphatase deficiency. GO annotations related to this gene include monosaccharide binding and identical protein binding. An important paralog of this gene is FBP2.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBP1 gene promoter:
         TBP   AP-1   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FBP1 promoter sequence
   Search Chromatin IP Primers for FBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q22.3   Ensembl cytogenetic band:  9q22.32   HGNC cytogenetic band: 9q22.3

FBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBP1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M097365:  view genomic region     (about GC identifiers)

Start:
97,365,415 bp from pter      End:
97,402,531 bp from pter
Size:
37,117 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: F16P1_HUMAN, P09467 (See protein sequence)
Recommended Name: Fructose-1,6-bisphosphatase 1  
Size: 338 amino acids; 36842 Da
Cofactor: Binds 3 magnesium ions per subunit (By similarity)
Subunit: Homotetramer
Sequence caution: Sequence=AAC50207.1; Type=Erroneous gene model prediction;
Selected PDB 3D structures from and Proteopedia for FBP1 (see all 15):
1FTA (3D)        2FHY (3D)        2FIE (3D)        2FIX (3D)        2JJK (3D)        2VT5 (3D)    
Secondary accessions: O75571 Q53F94 Q96E46

Explore the universe of human proteins at neXtProt for FBP1: NX_P09467

Explore proteomics data for FBP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for FBP1 (P09467) (see all 16)
     VKIKKKG  AGYALYG  GTIFGIY  DPLDGSS 


    See FBP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000498.2  NP_001121100.1  

    ENSEMBL proteins: 
     ENSP00000364475   ENSP00000411619   ENSP00000408025  
    Reactome Protein details: P09467

    FBP1 Human Recombinant Protein Products:

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    ProSpec Recombinant Protein for FBP1
    Cloud-Clone Corp. Proteins for FBP1

     
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    antibodies-online proteins for FBP1 (26 products) 

     
    antibodies-online peptides for FBP1

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    antibodies-online kits for FBP1 (13 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR028343 FBPtase
     IPR020548 Fructose_bisphosphatase_AS
     IPR000146 FBPase_class-1/SBPase

    Graphical View of Domain Structure for InterPro Entry P09467

    ProtoNet protein and cluster: P09467

    1 Blocks protein domain: IPB000146 Inositol phosphatase/fructose-1,6-bisphosphatase

    UniProtKB/Swiss-Prot: F16P1_HUMAN, P09467
    Similarity: Belongs to the FBPase class 1 family


    Find genes that share domains with FBP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: F16P1_HUMAN, P09467
    Catalytic activity: D-fructose 1,6-bisphosphate + H(2)O = D-fructose 6-phosphate + phosphate
    Enzyme regulation: 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 entry for FBP1:
    fructose 1,6-bisphosphatase,hepatic,expressed in liver,fructose metabolism,neoglucogenesis,energy pathway

         Enzyme Numbers (IUBMB): EC 3.1.3.111 2 EC 3.1.32

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10222032
    GO:0016208AMP binding IDA10222032
    GO:0042132fructose 1,6-bisphosphate 1-phosphatase activity IMP19259699
    GO:0042578phosphoric ester hydrolase activity ----
    GO:0042802identical protein binding IPI16169070
         
    Find genes that share ontologies with FBP1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FBP1

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    4 qRT-PCR Assays for microRNAs that regulate FBP1:
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    SwitchGear 3'UTR luciferase reporter plasmidFBP1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    chloroplast4
    cytosol4
    nucleus2
    vacuole2
    cytoskeleton1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with FBP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FBP1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    Glycolysis / Gluconeogenesis0.46
    Glycolysis and Gluconeogenesis0.60
    gluconeogenesis0.39
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Glucose metabolism
    Glucose metabolism0.44
    Gluconeogenesis0.44
    4MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    5Carbon metabolism
    Carbon metabolism0.38


    Find genes that share SuperPaths with FBP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for FBP1
        Glycolysis and gluconeogenesis (short map)

    2 BioSystems Pathways for FBP1
        Glycolysis and Gluconeogenesis
    gluconeogenesis


    1 Reactome Pathway for FBP1
        Gluconeogenesis


    Selected Kegg Pathways  (Kegg details for FBP1) (see all 6):
        Glycolysis / Gluconeogenesis
    Pentose phosphate pathway
    Fructose and mannose metabolism
    Metabolic pathways
    Carbon metabolism

    UniProtKB/Swiss-Prot: F16P1_HUMAN, P09467
    Pathway: Carbohydrate biosynthesis; gluconeogenesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FBP1: 

              Insulin Signaling Pathway in human mouse rat
              Diabetes in human mouse rat
              Glucose Metabolism in human mouse rat
              Drug Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for FBP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FBP1 (P094671, 2, 3 ENSP000003644754) via UniProtKB, MINT, STRING, and/or I2D (see all 125)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BIN1O004991, 3, ENSP000003167794EBI-712740,EBI-719094 I2D: score=2 STRING: ENSP00000316779
    BCL2L1Q078172, 3MINT-8249300 I2D: score=2 
    CSNK1EP496742, 3MINT-8252747 I2D: score=2 
    DYNC1I1O145762, 3MINT-8254877 I2D: score=2 
    HDAC6Q9UBN72, 3MINT-8258021 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006000fructose metabolic process TAS7558035
    GO:0006002fructose 6-phosphate metabolic process IDA16442285
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--

    Find genes that share ontologies with FBP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FBP1 (F16P1)

    5 HMDB Compounds for FBP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Beta-D-Fructose 6-phosphatebeta-D-Fructose 6-phosphate (see all 2)----
    Fructose 1,6-bisphosphateD-Fructose 1,6-biphosphate (see all 16)488-69-7--
    Fructose 6-phosphateD-Fructose 6-phosphate (see all 13)643-13-0--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    9 DrugBank Compounds for FBP1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2,5-Anhydroglucitol-1,6-Biphosphate-- --target--17139284 17016423 10592235
    Fructose-6-Phosphate-- --target--17139284 17016423 10592235
    Adenosine monophosphate5'-Adenosine monophosphate (see all 15)61-19-8targetantagonist inhibitory allosteric modulator18650089 7809062
    2,5-DICHLORO-N-(5-CHLORO-1,3-BENZOXAZOL-2-YL)BENZENESULFONAMIDE-- --target--10592235
    2,5-DICHLORO-N-[5-METHOXY-7-(6-METHOXYPYRIDIN-3-YL)-1,3-BENZOXAZOL-2-YL]BENZENESULFONAMIDE-- --target--10592235
    4-AMINO-N-[(2-SULFANYLETHYL)CARBAMOYL]BENZENESULFONAMIDE-- --target--10592235
    Mdl-29951-- 101861-63-6target--10592235
    N-[7-(3-AMINOPHENYL)-5-METHOXY-1,3-BENZOXAZOL-2-YL]-2,5-DICHLOROBENZENESULFONAMIDE-- --target--10592235
    {4-[3-(6,7-Diethoxy-Quinazolin-4-Ylamino)-Phenyl]-Thiazol-2-Yl}-Methanol-- --target--10592235

    4 Novoseek inferred chemical compound relationships for FBP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fructose-1,6-bisphosphate 70.5 7 15996096 (3), 14766013 (1)
    leucovorin 44.9 2 1894617 (1), 8304978 (1)
    folate 37.6 6 1894617 (2), 12939425 (1), 9973545 (1), 8304978 (1)
    glucose 17.9 3 12456004 (3)



    Find genes that share compounds with FBP1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FBP1 gene (2 alternative transcripts): 
    NM_000507.3  NM_001127628.1  

    Unigene Cluster for FBP1:

    Fructose-1,6-bisphosphatase 1
    Hs.494496  [show with all ESTs]
    Unigene Representative Sequence: NM_000507
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375326(uc004auw.4) ENST00000414122 ENST00000415431(uc010mrl.3)

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    SwitchGear 3'UTR luciferase reporter plasmidFBP1 3' UTR sequence
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    Additional mRNA sequence: 

    AF073475.1 AK223395.1 AK292199.1 AK316583.1 AY544122.1 BC012927.1 D26054.1 D26055.1 
    D26056.1 L10320.1 M19922.1 U47918.1 U47919.1 

    9 DOTS entries:

    DT.75102665  DT.121156059  DT.100795090  DT.91753264  DT.121156051  DT.95376862  DT.100027020  DT.121156047 
    DT.91753262 

    Selected AceView cDNA sequences (see all 173):

    AV656500 BM848047 BE068816 AV655768 NM_000507 CB146646 BI772192 D20805 
    BC012927 CB121421 BF434937 CB138537 CB141206 AI478334 CB121458 CB122968 
    U47919 U47918 CB141233 CB138204 BP373823 CD369494 D26055 CD367933 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for FBP1    About this scheme

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


    ECgene alternative splicing isoforms for FBP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTATTTCCA
    FBP1 Expression
    About this image


    FBP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Loop of Henle Cells Loop of Henle
             Metanephros
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
             Cerebral Cortex
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Mature Sertoli Cells Seminiferous Tubules
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
    FBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.494496
        Pathway & Disease-focused RT2 Profiler PCR Arrays including FBP1: 
              Insulin Signaling Pathway in human mouse rat
              Diabetes in human mouse rat
              Glucose Metabolism in human mouse rat
              Drug Metabolism in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FBP1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbp11 , 5 fructose bisphosphatase 11, 5 83.63(n)1
    84.91(a)1
      13 (32.74 cM)5
    141211  NM_019395.31  NP_062268.11 
     628647535 
    chicken
    (Gallus gallus)
    Aves FBP11 fructose-1,6-bisphosphatase 1 74.36(n)
    80.47(a)
      395218  NM_001278048.1  NP_001264977.1 
    lizard
    (Anolis carolinensis)
    Reptilia FBP16
    fructose-1,6-bisphosphatase 1
    70(a)
    1 ↔ 1
    2(40880379-40917518)
    African clawed frog
    (Xenopus laevis)
    Amphibia fbp-prov2 fructose-1,6-bisphosphatase 77.39(n)    BC053784.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk92h022 wufk92h02 79.41(n)   335231  BC057430.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fbp3 fructose-bisphosphatase 64(a)   38A4   --
    worm
    (Caenorhabditis elegans)
    Secernentea fbp-16
    Protein FBP-1 (fbp-1) mRNA, complete cds
    59(a)
    1 → many
    I(2580935-2586124) WBGene00001404
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FBP1(YLR377C)4
    FBP11
    Fructose-1,6-bisphosphatase, key regulatory enzyme more4
    FBP11
    52.17(n)1
    48.45(a)1
      12(874792-873746)4
    8510921, 4  NP_013481.31  NP_013481.14 
    soybean
    (Glycine max)
    eudicotyledons Gma.25222 Transcribed sequence with moderate similarity to protein more 70.82(n)  
    rice
    (Oryza sativa)
    Liliopsida Os.117562 Oryza sativa mRNA for fructose-1,6-bisphosphatase (plastidic more 70.51(n)    AB007194.1 


    ENSEMBL Gene Tree for FBP1 (if available)
    TreeFam Gene Tree for FBP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FBP1 gene
    FBP22  
    1 SIMAP similar gene for FBP1 using alignment to 3 protein entries:     F16P1_HUMAN (see all proteins):
    FBP2

    Find genes that share paralogs with FBP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FBP1 (see all 953)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0388134
    Fructose-1,6-bisphosphatase deficiency (FBPD)4--see VAR_0388132 P R mis40--------
    VAR_0023814
    Fructose-1,6-bisphosphatase deficiency (FBPD)4--see VAR_0023812 A D mis40--------
    VAR_0023804
    Fructose-1,6-bisphosphatase deficiency (FBPD)4--see VAR_0023802 G S mis40--------
    VAR_0388124
    Fructose-1,6-bisphosphatase deficiency (FBPD)4--see VAR_0388122 F S mis40--------
    rs113515441,2
    C,F--97365415(+) GAGACT/-TTTTT 2 -- ut315Minor allele frequency- -:0.48NS NA 122
    rs113048671,2
    C,F--97366522(+) AAACC-/AAAAAA 2 -- int1 trp33Minor allele frequency- A:0.33NA CSA 6
    rs1999557651,2
    C--97366522(-) TTTTTG/TGGTTT 2 -- int10--------
    rs58992271,2
    C--97373148(+) ttttt-/T/TTT 
            
    ttttt
    4 -- int1 cds1 trp31NA 2
    rs351698851,2
    C--97376067(+) AGAAG-/AAAAAA 2 -- int11Minor allele frequency- A:0.50NA 2
    rs570933301,2
    C--97379199(+) TCTCTCT/-TTCTC 2 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for FBP1 (97365415 - 97402531 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for FBP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668617CNV Deletion23128226
    esv2738800CNV Deletion23290073
    esv269321CNV Insertion20981092
    esv274676CNV Insertion20981092
    nsv466436CNV Loss19166990
    nsv415436CNV Loss16902084
    nsv893596CNV Gain21882294
    nsv893597CNV Gain21882294

    Human Gene Mutation Database (HGMD): FBP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for FBP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611570   
    OMIM disorders: 229700  
    UniProtKB/Swiss-Prot: F16P1_HUMAN, P09467
  • Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]: Inherited as an autosomal recessive disorder
    mainly in the liver and causes life-threatening episodes of hypoglycemia and metabolic acidosis (lactacidemia) in
    newborn infants or young children. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 4 diseases for FBP1:    
    About MalaCards
    metabolic acidosis    fructose-1,6-bisphosphatase deficiency    acute pyelonephritis    hypoglycemia

    3 diseases from the University of Copenhagen DISEASES database for FBP1:
    fructose-1,6-bisphosphatase deficiency     Diabetes mellitus     Hyperglycemia

    Find genes that share disorders with FBP1           About GenesLikeMe

    4 Novoseek inferred disease relationships for FBP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anemia hemolytic 35.9 1 14766013 (1)
    hypoglycemia 30.9 1 19259699 (1)
    hepatocellular carcinoma 17.3 3 19637194 (1)
    tumors 0 10 19585652 (2), 19637194 (2), 19087307 (1)

    Genatlas disease: FBP1
    episodic spells of hyperventilation,apnea,hypoglycemia,metabolic acidosis and lactic acidosis with a risk of
    lethal course in the newborn

    Genetic Association Database (GAD): FBP1
    Human Genome Epidemiology (HuGE) Navigator: FBP1 (3 documents)

    Export disorders for FBP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FBP1 gene, integrated from 10 sources (see all 85):
    (articles sorted by number of sources associating them with FBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Allosteric FBPase inhibitors gain 10(5) times in potency when simultaneously binding two neighboring AMP sites. (PubMed id 18650089)1, 2, 7 Hebeisen P.... Ruf A. (Bioorg. Med. Chem. Lett. 2008)
    2. Crystal structure of fructose-1,6-bisphosphatase complexed with fructose 2,6-bisphosphate, AMP, and Zn2+ at 2.0-A resolution: aspects of synergism between inhibitors. (PubMed id 7809062)1, 2, 7 Xue Y.... Lipscomb W.N. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    3. 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. (PubMed id 8387495)1, 2, 3 El-Maghrabi M.R.... Pilkis S.J. (J. Biol. Chem. 1993)
    4. 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. (PubMed id 7558035)1, 2, 9 El-Maghrabi M.R....Pilkis S.J. (Genomics 1995)
    5. Benzoxazole benzenesulfonamides are novel allosteric inhibitors of fructose-1,6-bisphosphatase with a distinct binding mode. (PubMed id 16442285)1, 2, 9 von Geldern T.W....Abad-Zapatero C. (Bioorg. Med. Chem. Lett. 2006)
    6. The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples. (PubMed id 18460190)1, 4, 9 Olsen L....Werge T. (BMC Med. Genet. 2008)
    7. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    8. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (Genet. Med. 2008)
    9. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2203 HGNC: 3606 AceView: FBP1 Ensembl:ENSG00000165140 euGenes: HUgn2203
    ECgene: FBP1 Kegg: 2203 H-InvDB: FBP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FBP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FBP1[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fbp1/
    Wikipedia http://en.wikipedia.org/wiki/Fructose_bisphosphatase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FBP1 gene:
    Search GeneIP for patents involving FBP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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