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PFKP Gene

protein-coding   GIFtS: 68
GCID: GC10P003109

Phosphofructokinase, Platelet

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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include 6-phosphofructokinase activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_008705.17  NC_018921.2  
Regulatory elements:
   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 Chromatin IP Primers for PFKP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
3,108,525 bp from pter      End:
3,179,904 bp from pter
Size:
71,380 bases      Orientation:
plus 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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: 

  • GlcNAcylation decreases enzyme activity (By similarity)1
  • Ubiquitination2 at Lys15, Lys25, Lys109, Lys139, Lys289, Lys395, Lys400, Lys408, Lys459, Lys480,
                                 Lys486, Lys666, Lys688, Lys747, Lys759, Lys765
  • Glycosylation2 at Ser540
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PFKP (Q01813) (see all 38)
     VLTSGGD  ALHRIIE  IIIVAEG  NYTTDFI 


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

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

    ENSEMBL proteins: 
     ENSP00000477128   ENSP00000370517   ENSP00000370465   ENSP00000385880   ENSP00000408858  
     ENSP00000476311   ENSP00000387871   ENSP00000370462   ENSP00000410275  
    Reactome Protein details: Q01813

    PFKP Human Recombinant Protein Products:

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    OriGene MassSpec for PFKP
    OriGene Custom Protein Services for PFKP
    GenScript Custom Purified and Recombinant Proteins Services for PFKP
    Novus Biologicals PFKP Proteins
    Novus Biologicals PFKP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PFKP

     
    Search eBioscience for Proteins for PFKP 

     
    antibodies-online proteins for PFKP (7 products) 

     
    antibodies-online peptides for PFKP

    PFKP Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for PFKP
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    ThermoFisher Antibodies for PFKP
    LSBio Antibodies in human, mouse, rat for PFKP
    antibodies-online antibodies for PFKP (58 products) 

    PFKP Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PFKP
    Cloud-Clone Corp. CLIAs for PFKP
    Search eBioscience for ELISAs for PFKP 
    antibodies-online kits for PFKP (27 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with PFKP           About GenesLikeMe


    (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,
    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: 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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038726-phosphofructokinase activity TAS1834056
    GO:0005524ATP binding IEA--
    GO:0032403protein complex binding IDA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with PFKP           About GenesLikeMe


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

         1 MGI phenotypic allele for Pfkp (no phenotypes)

    Find genes that share phenotypes with PFKP           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PFKP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PFKP

       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

    miRNA
    Products:
        
    miRTarBase miRNAs that target PFKP:
    hsa-mir-615-3p (MIRT039986), hsa-mir-455-3p (MIRT037818), hsa-mir-520e (MIRT007338), hsa-mir-26b-5p (MIRT030323), hsa-mir-193b-3p (MIRT041540), hsa-mir-520b (MIRT007337), hsa-mir-520a-3p (MIRT007336)

    Block miRNA regulation of human, mouse, rat PFKP using miScript Target Protectors
    Selected qRT-PCR 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
    SwitchGear 3'UTR luciferase reporter plasmidPFKP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PFKP
    Predesigned siRNA for gene silencing in human, mouse, rat PFKP

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for PFKP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PFKP (NM_002627)
    Sino Biological Human cDNA Clone for PFKP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFKP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFKP
    Addgene plasmids for PFKP 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFKP

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12250) for PFKP 


    (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
    cytosol5
    nucleus2
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:00059456-phosphofructokinase complex IEA--
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with PFKP           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 PFKP About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    Glycolysis0.40
    Glycolysis and Gluconeogenesis0.60
    glycolysis0.00
    Glycolysis / Gluconeogenesis0.46
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38
    4Akt Signaling
    Akt Signaling0.60
    5MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45


    Find genes that share SuperPaths with PFKP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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


    1 Reactome Pathway for PFKP
        Glycolysis


    Selected Kegg Pathways  (Kegg details for PFKP) (see all 8):
        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

        Pathway & Disease-focused RT2 Profiler PCR Array including PFKP: 

              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PFKP

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

    Selected Interacting proteins for PFKP (Q018132, 3 ENSP000003705174) via UniProtKB, MINT, STRING, and/or I2D (see all 866)
    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 
    TUBGCP3Q96CW52, ENSP000002619654MINT-7945693 MINT-7947479 STRING: ENSP00000261965
    TUBG1P232582, ENSP000002514134MINT-7945693 MINT-7947479 STRING: ENSP00000251413
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    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:0006096glycolytic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with PFKP           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 PFKP (K6PP)

    Selected 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)



    Find genes that share compounds with PFKP           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 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
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000607886 ENST00000381125(uc001igp.3 uc009xhs.1 uc009xht.3 uc009xhu.3)
    ENST00000495715 ENST00000381075(uc001igq.3 uc009xhr.3) ENST00000421751
    ENST00000407806 ENST00000415005 ENST00000468050 ENST00000460445 ENST00000413079
    ENST00000381072 ENST00000433193
    miRNA
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    Selected qRT-PCR 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
    SwitchGear 3'UTR luciferase reporter plasmidPFKP 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PFKP
    Clone
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    OriGene ORF clones in mouse, rat for PFKP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PFKP (NM_002627)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFKP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFKP
    Addgene plasmids for PFKP 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PFKP
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      QuantiTect SYBR Green Assays in human, mouse, rat PFKP
      QuantiFast Probe-based Assays in human, mouse, rat PFKP
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12250) for PFKP 

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 690):

    CR622143 BM792060 CR603216 BM718326 BU165380 BI754858 BG680103 BQ269045 
    BI711653 AI570416 BI916163 CR598026 NM_002627 W23575 CR624196 BF769777 
    AI797916 CD742553 BG257599 AA384565 R50429 AA406495 BM823941 BG319605 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

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    PFKP expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Heart (Cardiovascular System)
             Dorsal Aorta
     
     Gut Tube (Gastrointestinal Tract)
             Midgut
     
     Gonad (Reproductive System)
             Primordial Germ Cells Primitive Gonad
    PFKP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PFKP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.26010
        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PFKP gene from Selected 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 82.56(n)1
    88.95(a)1
      13 (3.25 cM)5
    564211  NM_019703.31  NP_062677.11 
     65797685 
    chicken
    (Gallus gallus)
    Aves PFKP6
    Gallus gallus phosphofructokinase, platelet (PFKP)...
    85(a)
    1 ↔ 1
    2(11354185-11395733)
    lizard
    (Anolis carolinensis)
    Reptilia PFKP6
    phosphofructokinase, platelet
    83(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 PFK1 49.46(n)
    45.1(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)
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    Paralogs for PFKP gene
    PFKM2  PFKL2  
    6 SIMAP similar genes for PFKP using alignment to 9 protein entries:     K6PP_HUMAN (see all proteins):
    PFK-P    PFKM    PFKL    DKFZp686G1648    DKFZp686L2097    DKFZp779O048

    Find genes that share paralogs with PFKP           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 PFKP (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 (3108525 - 3179904 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PFKP
    DNA2.0 Custom Variant and Variant Library Synthesis for PFKP

    (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: 171840    OMIM disorders: --


    Find genes that share disorders with PFKP           About GenesLikeMe

    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)
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    PubMed articles for PFKP gene, integrated from 10 sources (see all 76):
    (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. (Biochem. Biophys. Res. Commun. 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. (Biochem. Biophys. Res. Commun. 1994)
    3. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    4. Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. (PubMed id 20712903)1, 4 Morgan A.R....Mitchell E.A. (BMC Med. Genet. 2010)
    5. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. ( international journal of clinical chemistry 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. (PLoS ONE 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. (Nat. Biotechnol. 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. (Am. J. Hum. Genet. 2006)
    9. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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: 5214 HGNC: 8878 AceView: PFKP Ensembl:ENSG00000067057 euGenes: HUgn5214
    ECgene: PFKP Kegg: 5214 H-InvDB: PFKP

    (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 PFKP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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