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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FBP1 Gene

protein-coding   GIFtS: 71
GCID: GC09M097365

Fructose-1,6-Bisphosphatase 1


(Previous symbol: FBP)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 fructose-1,6-bisphosphatase deficiency, and fructose-1,6-bidphosphatase deficiency, and among its related super-pathways are Glycolysis and gluconeogenesis (short map) and Metabolic pathways. GO annotations related to this gene include fructose 1,6-bisphosphate 1-phosphatase activity and AMP 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FBP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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;
6/14 PDB 3D structures from and Proteopedia for FBP1 (see all 14):
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P09467

  • 4/16 DME Specific Peptides for FBP1 (P09467) (see all 16)
     VKIKKKG  AGYALYG  GTIFGIY  DPLDGSS 

    FBP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FBP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000498.2  NP_001121100.1  

    ENSEMBL proteins: 
     ENSP00000364475   ENSP00000411619   ENSP00000408025  
    Reactome Protein details: P09467
    Human Recombinant Protein Products for FBP1: 
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    Cloud-Clone Corp. Proteins for FBP1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    FBP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     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


    FBP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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
         
    FBP1 for ontologies           About GeneDecksing


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    SwitchGear 3'UTR luciferase reporter plasmidFBP1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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
    Metabolism0.40
    Metabolic pathways0.40
    3Glucose metabolism
    Glucose metabolism0.50
    Gluconeogenesis0.50
    4MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48
    5Carbon metabolism
    Carbon metabolism0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for FBP1
        Glycolysis and gluconeogenesis (short map)


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

    2 BioSystems Pathways for FBP1
        Glycolysis and Gluconeogenesis
    gluconeogenesis

    4        Reactome Pathways for FBP1
        Gluconeogenesis
    Metabolism of carbohydrates
    Metabolism
    Glucose metabolism


    5/6         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


    FBP1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FBP1

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

    5/81 Interacting proteins for FBP1 (P094671, 2, 3 ENSP000003644754) via UniProtKB, MINT, STRING, and/or I2D (see all 81)

    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): 5/15 biological process terms (GO ID links to tree view) (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--

    FBP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FBP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about FBP1 / F16P1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/173 AceView cDNA sequences (see all 173):

    BF434937 CB138537 CB141206 AI478334 CB121458 CB122968 AV656500 U47918 
    BP373823 CB141233 U47919 BM848047 BE068816 AV655768 NM_000507 CB146646 
    BI772192 D20805 BC012927 CB121421 CB138204 BQ330713 CA306688 N57708 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FBP1 expression in normal human tissues (normalized intensities)      FBP1 embryonic expression: see
    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 
     5/19 selected tissues (see all 19) fully expand
     
     Kidney (Urinary System)    fully expand to see all 11 entries
             Loop of Henle Cells Loop of Henle
             Proximal Tubule
             kidney ; cells in tubules   
             visceral organ/metanephros/renal medulla   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 6 entries
             urinary bladder ; urothelial cells   
             visceral organ   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   

    See FBP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBP1

    SOURCE GeneReport for Unigene cluster: Hs.494496
        SABiosciences Expression via Pathway-Focused 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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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FBP1 gene from 10/26 species (see all 26)    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_019395.21  NP_062268.11 
     628647535 
    chicken
    (Gallus gallus)
    Aves FBP11 fructose-1,6-bisphosphatase 1 74.36(n)
    80.47(a)
      395218  XM_425040.3  XP_425040.1 
    lizard
    (Anolis carolinensis)
    Reptilia FBP16
    fructose-1,6-bisphosphatase 1
    69(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 fbp1 , 3 fructose-bisphosphatase3
    fructose-1,6-bisphosphatase1
    64(a)3
    64.13(n)1
    64.94(a)1
      38A43
    352651  NM_165314.11  NP_724223.21 
    worm
    (Caenorhabditis elegans)
    Secernentea fbp-11 Protein FBP-1 59.14(n)
    62.35(a)
      266822  NM_058603.3  NP_491004.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FBP1(YLR377C)4
    FBP11
    Fructose-1,6-bisphosphatase, key regulatory enzyme more4
    Fbp1p1
    52.07(n)1
    48.45(a)1
      12(874792-873746)4
    8510921, 4  NP_013481.31  NP_013481.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G436701 fructose-1,6-bisphosphatase, cytosolic 56.69(n)
    59.26(a)
      840953  NM_103492.4  NP_175032.1 
    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)
    About This Section
    Paralogs for FBP1 gene
    FBP22  
    1 SIMAP similar gene for FBP1 using alignment to 3 protein entries:     F16P1_HUMAN (see all proteins):
    FBP2

    FBP1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/953 SNPs in FBP1 are shown (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--------
    VAR_0023824
    ----see VAR_0023822 V A 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

    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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/21 diseases for FBP1 (see all 21):    About MalaCards
    fructose-1,6-bisphosphatase deficiency    fructose-1,6-bidphosphatase deficiency    acute pyelonephritis    metabolic acidosis
    hypoglycemia    pyelonephritis    lactic acidosis    cleft lip
    nephrotic syndrome    hyperglycemia    hepatocellular carcinoma    parkinson's disease
    ischemia    diabetes mellitus    schizophrenia    anemia
    colon cancer    pancreatitis    hepatitis    leukemia

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

    FBP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for FBP1 gene, integrated from 9 sources (see all 82):
    (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. (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. (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. (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. (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. (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. (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. (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. (2008)
    9. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2203 HGNC: 3606 AceView: FBP1 Ensembl:ENSG00000165140 euGenes: HUgn2203
    ECgene: FBP1 Kegg: 2203 H-InvDB: FBP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FBP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBP1
    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.)
    About This Section
    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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