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

PFKP Gene

protein-coding   GIFtS: 67
GCID: GC10P003109

Phosphofructokinase, Platelet

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Phosphofructokinase, Platelet1 2     Phosphofructokinase1
Phosphofructo-1-Kinase Isozyme C2 3     Platelet Type1
Phosphofructokinase 12 3     6-Phosphofructokinase Type C2
6-Phosphofructokinase, Platelet Type2 3     Phosphofructokinase, Platelet Type2
PFK-C2 3     phosphohexokinase2
PFKF2 3     Phosphohexokinase3
EC 2.7.1.113 8     EC 2.7.18

External Ids:    HGNC: 88781   Entrez Gene: 52142   Ensembl: ENSG000000670577   OMIM: 1718405   UniProtKB: Q018133   

Export aliases for PFKP gene to outside databases

Previous GC identifers: GC10P003157 GC10P003069 GC10P003063 GC10P003099 GC10P003045


(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 PFKP Gene:
The PFKP gene encodes the platelet isoform of phosphofructokinase (PFK)
(ATP:D-fructose-6-phosphate-1-phosphotransferase, EC 2.7.1.11). PFK catalyzes the irreversible conversion of
fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis. The PFKP gene,
which maps to chromosome 10p, is also expressed in fibroblasts. See also the muscle (PFKM; MIM 610681) and liver
(PFKL; MIM 171860) isoforms of phosphofructokinase, which map to chromosomes 12q13 and 21q22, respectively. Vora
(1981) (PubMed 6451249) determined that full tetrameric phophofructokinase enzyme expressed in platelets can be
composed of subunits P4, P3L, and P2L2.(supplied by OMIM, Mar 2008)

GeneCards Summary for PFKP Gene: 
PFKP (phosphofructokinase, platelet) is a protein-coding gene. Diseases associated with PFKP include glycogen storage disease vii, and glycogen storage disease, and among its related super-pathways are Glycolysis and gluconeogenesis (short map) and Metabolic pathways. GO annotations related to this gene include 6-phosphofructokinase activity and metal ion binding. An important paralog of this gene is PFKM.

UniProtKB/Swiss-Prot: K6PP_HUMAN, Q01813
Function: Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to
generate fructose-1,6-bisphosphate (FBP) and ADP

Gene Wiki entry for PFKP 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_008705.16  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PFKP gene promoter:
         E2F-3a   E2F-4   E2F-5   Pax-5   Sp1   E2F-2   MZF-1   IRF-2   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PFKP promoter sequence
   Search SABiosciences Chromatin IP Primers for PFKP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PFKP


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

Entrez Gene cytogenetic band: 10p15.3-p15.2   Ensembl cytogenetic band:  10p15.2   HGNC cytogenetic band: 10p15.3-p15.2

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P003109:  view genomic region     (about GC identifiers)

Start:
3,109,712 bp from pter      End:
3,179,904 bp from pter
Size:
70,193 bases      Orientation:
plus 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: K6PP_HUMAN, Q01813 (See protein sequence)
Recommended Name: 6-phosphofructokinase type C  
Size: 784 amino acids; 85596 Da
Cofactor: Magnesium
Subunit: Tetramer. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3. A subunit composition with a
higher proportion of platelet type subunits is found in platelets, brain and fibroblasts
Miscellaneous: In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP
(platelet) isoenzymes
Secondary accessions: B3KS15 Q5VSR7 Q5VSR8
Alternative splicing: 2 isoforms:  Q01813-1   Q01813-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PFKP: NX_Q01813

Explore proteomics data for PFKP at MOPED 

Post-translational modifications:

  • UniProtKB: GlcNAcylation decreases enzyme activity (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01813

  • 4/38 DME Specific Peptides for PFKP (Q01813) (see all 38)
     VLTSGGD  ALHRIIE  IIIVAEG  NYTTDFI 

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

    PFKP Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001229268.1  NP_002618.1  

    ENSEMBL proteins: 
     ENSP00000370517   ENSP00000370465   ENSP00000410590   ENSP00000385880   ENSP00000408858  
     ENSP00000387871   ENSP00000370462   ENSP00000410275  
    Reactome Protein details: Q01813
    Human Recombinant Protein Products for PFKP: 
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    Novus Biologicals PFKP Lysates
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PFKP 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:00059456-phosphofructokinase complex NAS--

    PFKP 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
    4 InterPro protein domains:
     IPR009161 6-phosphofructokinase_euk
     IPR022953 Phosphofructokinase
     IPR015912 Phosphofructokinase_CS
     IPR000023 Phosphofructokinase_dom

    Graphical View of Domain Structure for InterPro Entry Q01813

    ProtoNet protein and cluster: Q01813

    1 Blocks protein domain: IPB000023 Phosphofructokinase

    UniProtKB/Swiss-Prot: K6PP_HUMAN, Q01813
    Similarity: Belongs to the phosphofructokinase family. Two domains subfamily


    PFKP 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: K6PP_HUMAN, Q01813
    Function: Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to
    generate fructose-1,6-bisphosphate (FBP) and ADP
    Catalytic activity: ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate
    Enzyme regulation: Allosteric enzyme activated by ADP, AMP, or fructose bisphosphate and inhibited by ATP or
    citrate

         Genatlas biochemistry entry for PFKP:
    6-phosphofructo-1-kinase,expressed in platelet,fructose metabolism,energy pathway

         Enzyme Numbers (IUBMB): EC 2.7.1.111 2 EC 2.7.12

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038726-phosphofructokinase activity TAS1834056
    GO:0005524ATP binding IEA--
    GO:0046872metal ion binding IEA--
         
    PFKP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PFKP:
     Decreased circadian period len 

         1 MGI phenotypic allele for Pfkp (no phenotypes)

    PFKP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PFKP 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PFKP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PFKP 

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    hsa-miR-142-5p hsa-miR-302d hsa-miR-520e hsa-miR-520d-5p hsa-miR-106a hsa-miR-302e hsa-miR-512-3p hsa-miR-520a-3p
    SwitchGear 3'UTR luciferase reporter plasmidPFKP 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 PFKP About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis (short map)
    Glycolysis and gluconeogenesis (short map)0.60
    Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46
    Glycolysis and Gluconeogenesis0.60
    Glycolysis / Gluconeogenesis0.46
    glycolysis0.50
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Glucose metabolism
    Glucose metabolism0.50
    Glycolysis0.44
    4Carbon metabolism
    Carbon metabolism0.37
    Biosynthesis of amino acids0.37
    5Akt Signaling
    Akt Signaling0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PFKP
        AMPK Enzyme Complex Pathway
    Akt Signaling

    1 Cell Signaling Technology (CST) Pathway for PFKP
        Glucose / Energy Metabolism

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

    3 BioSystems Pathways for PFKP
        Glycolysis and Gluconeogenesis
    glycolysis
    Conversion of glucose to acetyl CoA and entry into the TCA cycle


    4        Reactome Pathways for PFKP
        Metabolism of carbohydrates
    Metabolism
    Glucose metabolism
    Glycolysis


    5/7         Kegg Pathways  (Kegg details for PFKP) (see all 7):
        Glycolysis / Gluconeogenesis
    Pentose phosphate pathway
    Fructose and mannose metabolism
    Galactose metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: K6PP_HUMAN, Q01813
    Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from
    D-glucose: step 3/4


    PFKP for pathways           About GeneDecksing

    Interactions:

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

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

    5/838 Interacting proteins for PFKP (Q018132, 3 ENSP000003705174) via UniProtKB, MINT, STRING, and/or I2D (see all 838)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBA5Q9GZZ92, 3MINT-7945693 MINT-7947479 I2D: score=1 
    TNFRSF1BP203332, 3MINT-49382 I2D: score=2 
    PRKAG1P546192, 3MINT-7945693 I2D: score=1 
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    HSPD1P108092, ENSP000003400194MINT-7945693 MINT-7947479 STRING: ENSP00000340019
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006002fructose 6-phosphate metabolic process IEA--
    GO:0006006glucose metabolic process TAS--
    GO:0006096glycolysis TAS--
    GO:0044281small molecule metabolic process TAS--

    PFKP 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

    PFKP for compounds           About GeneDecksing

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

    Browse Tocris compounds for PFKP (K6PP)

    10/15 HMDB Compounds for PFKP (see all 15)    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Beta-D-Fructose 6-phosphatebeta-D-Fructose 6-phosphate (see all 2)----
    CDPCDP (see all 3)63-38-7--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    D-Tagatose 1,6-bisphosphate1,6-di-O-phosphono-D-tagatofuranose ----
    D-Tagatose 6-phosphate6-O-phosphono-D-tagatofuranose (see all 2)----
    Fructose 1,6-bisphosphateD-Fructose 1,6-biphosphate (see all 16)488-69-7--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    IDP5'-IDP (see all 10)86-04-4--

    1 Novoseek inferred chemical compound relationship for PFKP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 23.8 7 16862226 (2), 16051672 (2)

    Search CenterWatch for drugs/clinical trials and news about PFKP / K6PP

    (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 PFKP gene (2 alternative transcripts): 
    NM_001242339.1  NM_002627.4  

    Unigene Cluster for PFKP:

    Phosphofructokinase, platelet
    Hs.26010  [show with all ESTs]
    Unigene Representative Sequence: NM_001242339
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381125(uc001igp.3 uc009xhs.1 uc009xht.3 uc009xhu.3)
    ENST00000495715 ENST00000381075(uc001igq.3 uc009xhr.3) ENST00000421751
    ENST00000407806 ENST00000415005 ENST00000468050 ENST00000460445 ENST00000413079
    ENST00000381072 ENST00000433193
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate PFKP (see all 25):
    hsa-miR-142-5p hsa-miR-302d hsa-miR-520e hsa-miR-520d-5p hsa-miR-106a hsa-miR-302e hsa-miR-512-3p hsa-miR-520a-3p
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    Additional mRNA sequence: 

    AK092597.1 AK097692.1 AK291841.1 AK308003.1 AK308226.1 AK309692.1 BC002536.1 BC021698.1 
    BC029138.1 BC043156.1 D21863.1 D25328.1 M64784.1 

    24/33 DOTS entries (see all 33):

    DT.91770457  DT.100841045  DT.95069913  DT.101985060  DT.121290159  DT.100841029  DT.100841038  DT.121290133 
    DT.75157960  DT.95069912  DT.219277  DT.91961196  DT.121290185  DT.121290215  DT.121290241  DT.91770458 
    DT.121290230  DT.91770476  DT.100700696  DT.100841025  DT.100841032  DT.100841044  DT.121290240  DT.121290252 

    24/690 AceView cDNA sequences (see all 690):

    CR603216 BM549037 BI824634 BM792060 BQ638920 BG057403 CB140100 BG680103 
    BQ669956 CR593800 BI754858 AA228101 BQ269045 BI711653 AI570416 BI916163 
    AA374646 CR598026 NM_002627 W23575 CR624196 BF769777 AI797916 BU737488 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for PFKP (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
    SP1:                                                  -     -           -                 -     -     -                                                         
    SP2:        -     -                 -                 -     -           -                 -     -     -                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                    -                 -     -     -                                                         
    SP5:                                                                                                                                                            

    ExUns: 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c
    SP1:  -                                                   
    SP2:  -                                                   
    SP3:  -                                                   
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for PFKP

    (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

    PFKP expression in normal human tissues (normalized intensities)      PFKP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTCAGATG
    PFKP Expression
    About this image


    PFKP 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
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Heart (Cardiovascular System)    fully expand to see all 6 entries
             Dorsal Aorta
             heart/atrium   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 5 entries
             autonomic/sympathetic/ganglion   
     
     Tooth
             visceral organ/oral region/upper jaw   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon

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

    SOURCE GeneReport for Unigene cluster: Hs.26010
        SABiosciences Expression via Pathway-Focused PCR Array including PFKP: 
              Hypoxia Signaling Pathway 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 animals and fungi.

    Orthologs for PFKP gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pfkp1 , 5 phosphofructokinase, platelet1, 5 83.33(n)1
    90.21(a)1
      13 (3.25 cM)5
    564211  NM_019703.31  NP_062677.11 
     65797685 
    chicken
    (Gallus gallus)
    Aves PFKP6
    phosphofructokinase, platelet
    83(a)
    1 ↔ 1
    2(11354185-11395733)
    lizard
    (Anolis carolinensis)
    Reptilia PFKP6
    6-phosphofructokinase
    82(a)
    1 ↔ 1
    6(9232582-9302440)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC688472 hypothetical protein MGC68847 76.89(n)    BC057710.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.125472 Transcribed sequence with moderate similarity to protein more 74.5(n)    CK016450.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pfk3 glycolysis 6-phosphofructokinase 53(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H10A.1b3   -- 57(a)
    (best of 3)
      X(2976190-2979588)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PFK11 Pfk1p 49.12(n)
    44.64(a)
      853155   NP_011756.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PFKP gene
    PFKM2  PFKL2  
    6 SIMAP similar genes for PFKP using alignment to 8 protein entries:     K6PP_HUMAN (see all proteins):
    PFK-P    PFKM    PFKL    DKFZp686G1648    DKFZp686L2097    DKFZp779O048

    PFKP 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

    10/3002 SNPs in PFKP are shown (see all 3002)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs580444001,2
    C--3061737(+) AAAAA-/AAAAAA/
    AAAAAAAAA
    CAAAA
    4 -- cds10--------
    rs353635091,2
    C,F--3107745(+) AATTGC/TATAAG 1 -- us2k15Minor allele frequency- T:0.09NA 128
    rs1117835721,2
    F--3107780(+) TAAAAC/TTCAGT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs353012431,2
    C,F--3107796(+) CCACCC/TTCTCC 1 -- us2k15Minor allele frequency- T:0.09NA 128
    rs1381856541,2
    --3107856(+) TTCTCC/TAGCGC 1 -- us2k10--------
    rs127795611,2
    C,F--3107896(+) GCTTAG/CAGCCT 1 -- us2k15Minor allele frequency- C:0.09NA 128
    rs122613071,2
    F--3107970(+) TATTAA/GTAGAA 1 -- us2k1 tfbs32Minor allele frequency- G:0.09CSA WA 120
    rs1428788761,2
    --3108135(+) CTGAGG/TACCAA 1 -- us2k10--------
    rs1460771021,2
    C--3108182(+) GGAGAG/TATCAG 1 -- us2k10--------
    rs794839481,2
    C,F--3108213(+) GCAGAG/TTTTTT 1 -- us2k12Minor allele frequency- T:0.08NA 122

    HapMap Linkage Disequilibrium report for PFKP (3109712 - 3179904 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/48 variations for PFKP (see all 48):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731151CNV Deletion23290073
    esv2731173CNV Deletion23290073
    esv2731140CNV Deletion23290073
    esv2731273CNV Deletion23290073
    esv2403236CNV Deletion18987734
    esv1312745CNV Deletion17803354
    dgv99e201CNV Deletion23290073
    esv2731262CNV Deletion23290073
    esv2674301CNV Deletion23128226
    esv2731162CNV Deletion23290073

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    (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: 171840    OMIM disorders: --

    11 diseases for PFKP:    About MalaCards
    glycogen storage disease vii    glycogen storage disease    pancreatic ductal adenocarcinoma    pneumonia
    obesity    tuberculosis    hypoxia    adenocarcinoma
    alzheimer's disease    thyroiditis    pancreatitis


    PFKP for disorders           About GeneDecksing


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

    1 Novoseek inferred disease relationship for PFKP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 2 19260470 (1)

    Genetic Association Database (GAD): PFKP
    Human Genome Epidemiology (HuGE) Navigator: PFKP (8 documents)

    Export disorders for PFKP 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 PFKP gene, integrated from 9 sources (see all 74):
    (articles sorted by number of sources associating them with PFKP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and sequence of a cDNA encoding human platelet phosphofructokinase. (PubMed id 1834056)1, 2, 9 Simpson C.J. and Fothergill-Gilmore L.A. (1991)
    2. Cloning of a complete protein-coding sequence of human platelet-type phosphofructokinase isozyme from pancreatic islet. (PubMed id 8117307)1, 2, 9 Eto K.... Kadowaki T. (1994)
    3. Physiogenomic analysis of statin-treated patients: do main-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (2010)
    4. Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collabora tive study. (PubMed id 20712903)1, 4 Morgan A.R....Mitchell E.A. (2010)
    5. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. (2009)
    6. Non-replication of genome-wide based associations between common variants in INSIG2 and PFKP and obesity in studies of 18,014 Danes. (PubMed id 18682847)1, 4 Andreasen C.H....Hansen T. (2008)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    8. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    9. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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: 5214 HGNC: 8878 AceView: PFKP Ensembl:ENSG00000067057 euGenes: HUgn5214
    ECgene: PFKP Kegg: 5214 H-InvDB: PFKP

    (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 PFKP Pharmacogenomics, SNPs, Pathways

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

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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