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

FBP1 Gene

protein-coding   GIFtS: 70
GCID: GC09M097365

fructose-1,6-bisphosphatase 1


(Previous symbol: FBP)
 Explore 23 diseases affiliated with
FBP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FBP1    

Aliases
for FBP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for FBP1 gene

(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:
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)




Genomic Views
for FBP1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  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

Proteins
for FBP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000364475   ENSP00000411619   ENSP00000408025  
    Reactome Protein details: P09467
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for FBP1
    Uscn Proteins for FBP1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--


    FBP1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for FBP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FBP1 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: IPB000146 Inositol phosphatase/fructose-1,6-bisphosphatase

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


    Function
    for FBP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: FBP1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16275660
    GO:0016208AMP binding IDA18650089
    GO:0042132fructose 1,6-bisphosphate 1-phosphatase activity IMP7558035
    GO:0046872metal ion binding IMP8387495
    GO:0048029monosaccharide binding ISS--


    FBP1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for FBP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glycolysis and gluconeogenesis (short map)
    		Glycolysis and gluconeogenesis (short map)1.00
    		Glycolysis and Gluconeogenesis0.60
    		Glycolysis and gluconeogenesis (short map)0.97
    		Glycolysis / Gluconeogenesis0.41
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3gluconeogenesis I
    		gluconeogenesis I1.00
    		glycolysis I0.58
    4Glucose metabolism
    		Glucose metabolism1.00
    		Gluconeogenesis0.50
    5Fructose and mannose metabolism
    		Fructose and mannose metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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)

    3 BioSystems Pathways for FBP1 
        Glycolysis and Gluconeogenesis
    glycolysis I
    gluconeogenesis I

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


    5         Kegg Pathways  (Kegg details for FBP1):
        Glycolysis / Gluconeogenesis
    Pentose phosphate pathway
    Fructose and mannose metabolism
    Metabolic pathways
    Insulin signaling pathway

    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-1965383 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 IDA8387495
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--


    FBP1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FBP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for FBP1

    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 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 

    Transcripts
    for FBP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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 cDNA 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):

    U47918 CB138204 CB121458 AV656500 CB122968 AI478334 CB141206 BF434937 
    CB138537 AV655768 BI772192 CB121421 D20805 BC012927 BE068816 CB146646 
    NM_000507 BM848047 U47919 BP373823 CB141233 BE467576 BM818985 CD369406 

    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

    Expression
    for FBP1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTATTTCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FBP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyLoop of HenleLoop of Henle CellsKidney
    KidneyProximal TubuleProximal Tubule CellsKidney
    TestisSeminiferous TubulesMature Sertoli CellsTestis
    KidneyEpithelial TubuleKidney
    KidneyLoop of HenleKidney
    KidneyMetanephrosKidney
    KidneyProximal TubuleKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for FBP1 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for FBP1 gene from 11/38 species (see all 38)    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
    		 --
    		 81(a)
    		 1 ↔ 1
    		 2(40880647-40898666)
    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
    for FBP1 gene

    (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



    Genomic Variants
    for FBP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/810 NCBI SNPs in FBP1 are shown (see all 810)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1853809861,2
    		--97364958(+) ACTGGA/GTAAAC 2 -- ds50010--------
    rs5833651,2
    		C,F,A,H,--97365030(+) TGCAGG/TTACCA 2 -- ds500111Minor allele frequency- T:0.39NA NS WA EA 366
    rs1456572041,2
    		--97365072(+) AGGGCA/GTGAGT 2 -- ds50010--------
    rs1476746831,2
    		--97365173(+) GAAGCC/TGTATG 2 -- ds50010--------
    rs5478341,2
    		C,F,A,H,--97365220(-) GGCAGA/TGTGGG 2 -- ds500120Minor allele frequency- T:0.43EA NA NS WA CSA 648
    rs1406955491,2
    		--97365269(+) CTCCTC/TGTCCA 2 -- ds50010--------
    rs1497625211,2
    		--97365327(+) TTATTC/GTGAAG 2 -- ds50010--------
    rs2009175201,2
    		--97365414(+) GGAGA-/CTTTTT 2 -- ds50010--------
    rs113515441,2
    		C,F,--97365415(+) GAGACT/-TTTTT 2 -- ut315Minor allele frequency- -:0.48NS NA 122
    rs799711661,2
    		--97365422(+) TTTTTA/TAAGGA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for FBP1 (97365415 - 97402531 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FBP1
         1 Indel: 13185
    Human Gene Mutation Database (HGMD): FBP1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for FBP1

    Disorders / Diseases
    for FBP1 gene

    (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.)
    About This Section
    FBP1 for disorders           About GeneDecksing

    OMIM gene information: 611570   
    OMIM disorders: 229700  
    UniProtKB/Swiss-Prot: F16P1_HUMAN, P09467
  • Defects in FBP1 are the cause of fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]. FBPD is 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

    20/23 diseases for FBP1 (see all 23):    About MalaCards
    fructose-1,6-bidphosphatase deficiency    fructose-1,6-bisphosphatase deficiency    hypoglycemia    cleft lip/palate
    cleft lip    lactic acidosis    pyelonephritis    acute pyelonephritis
    nephrotic syndrome    diabetes mellitus    hepatocellular carcinoma    apnea
    parkinson's disease    hyperglycemia    liver cancer    ischemia
    carcinoma    cholesterol    schizophrenia    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for FBP1:
    "fructose-1,6-bisphosphatase deficiency"

    4 Novoseek 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

    Human Genome Epidemiology (HuGE) Navigator: FBP1 (3 documents)

    Export disorders for FBP1 gene to outside databases

    Publications
    for FBP1 gene

    (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 79):
    (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. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    7. 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)
    8. cDNA sequence and kinetic properties of human lung fructose(1, 6)bisphosphatase. (PubMed id 10222032)1, 2 Skalecki K.... Dzugaj A. (1999)
    9. Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. (PubMed id 9382095)1, 2 Kikawa Y.... Sudo M. (1997)
    10. Liver fructose-1,6-bisphosphatase cDNA: trans-complementation of fission yeast and characterization of two human transcripts. (PubMed id 7589895)1, 2 Bertolotti R.... Okayama H. (1995)

    External Searches for FBP1 gene

    (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)

    Genome Databases showing FBP1 gene

    (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

    Other Databases showing FBP1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FBP1 gene

    (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

    Intellectual Property
    for FBP1 gene

    (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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