Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P08237

- PFKAM_HUMAN

UniProt

P08237 - PFKAM_HUMAN

Protein

ATP-dependent 6-phosphofructokinase, muscle type

Gene

PFKM

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 168 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.

    Catalytic activityi

    ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate.UniRule annotation

    Cofactori

    Magnesium.

    Enzyme regulationi

    Allosterically activated by ADP, AMP, or fructose 2,6-bisphosphate, and allosterically inhibited by ATP or citrate.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei25 – 251ATP; via amide nitrogenUniRule annotation
    Metal bindingi119 – 1191Magnesium; catalyticUniRule annotation
    Active sitei166 – 1661Proton acceptorUniRule annotation
    Binding sitei201 – 2011Substrate; shared with dimeric partnerUniRule annotation
    Binding sitei264 – 2641SubstrateUniRule annotation
    Binding sitei292 – 2921Substrate; shared with dimeric partnerUniRule annotation
    Binding sitei471 – 4711Allosteric activator fructose 2,6-bisphosphateUniRule annotation
    Binding sitei566 – 5661Allosteric activator fructose 2,6-bisphosphate; shared with dimeric partnerUniRule annotation
    Binding sitei629 – 6291Allosteric activator fructose 2,6-bisphosphateUniRule annotation
    Binding sitei655 – 6551Allosteric activator fructose 2,6-bisphosphate; shared with dimeric partnerUniRule annotation
    Binding sitei735 – 7351Allosteric activator fructose 2,6-bisphosphateUniRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi88 – 892ATPUniRule annotation
    Nucleotide bindingi118 – 1214ATPUniRule annotation

    GO - Molecular functioni

    1. 6-phosphofructokinase activity Source: UniProtKB
    2. ATP binding Source: BHF-UCL
    3. fructose binding Source: BHF-UCL
    4. identical protein binding Source: IntAct
    5. kinase binding Source: BHF-UCL
    6. metal ion binding Source: UniProtKB-KW
    7. protein binding Source: IntAct
    8. protein C-terminus binding Source: HGNC

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. carbohydrate phosphorylation Source: GOC
    3. fructose 6-phosphate metabolic process Source: BHF-UCL
    4. glucose homeostasis Source: Ensembl
    5. glucose metabolic process Source: Reactome
    6. glycolytic process Source: UniProtKB
    7. muscle cell cellular homeostasis Source: BHF-UCL
    8. positive regulation of insulin secretion Source: Ensembl
    9. protein oligomerization Source: BHF-UCL
    10. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Kinase, Transferase

    Keywords - Biological processi

    Glycolysis

    Keywords - Ligandi

    ATP-binding, Magnesium, Metal-binding, Nucleotide-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS07832-MONOMER.
    ReactomeiREACT_1383. Glycolysis.
    SABIO-RKP08237.
    UniPathwayiUPA00109; UER00182.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-dependent 6-phosphofructokinase, muscle typeUniRule annotation (EC:2.7.1.11UniRule annotation)
    Short name:
    ATP-PFKUniRule annotation
    Short name:
    PFK-M
    Alternative name(s):
    6-phosphofructokinase type A
    Phosphofructo-1-kinase isozyme A
    Short name:
    PFK-A
    PhosphohexokinaseUniRule annotation
    Gene namesi
    Name:PFKM
    Synonyms:PFKX
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:8877. PFKM.

    Subcellular locationi

    Cytoplasm UniRule annotation

    GO - Cellular componenti

    1. 6-phosphofructokinase complex Source: UniProtKB
    2. apical plasma membrane Source: UniProtKB
    3. cytosol Source: Reactome
    4. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Glycogen storage disease 7 (GSD7) [MIM:232800]: A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391R → L in GSD7; Ashkenazi.
    VAR_006063
    Natural varianti39 – 391R → P in GSD7; Italian. 1 Publication
    VAR_006064
    Natural varianti100 – 1001R → Q in GSD7; Swiss. 1 Publication
    Corresponds to variant rs2228500 [ dbSNP | Ensembl ].
    VAR_006065
    Natural varianti209 – 2091G → D in GSD7; French Canadian. 1 Publication
    VAR_006066
    Natural varianti543 – 5431D → A in GSD7; Italian. 1 Publication
    VAR_006067
    Natural varianti686 – 6861W → C in GSD7; Japanese. 1 Publication
    VAR_006068
    Natural varianti696 – 6961R → H in GSD7; Swiss. 1 Publication
    Corresponds to variant rs41291971 [ dbSNP | Ensembl ].
    VAR_006069

    Keywords - Diseasei

    Disease mutation, Glycogen storage disease

    Organism-specific databases

    MIMi232800. phenotype.
    Orphaneti371. Glycogen storage disease due to muscle phosphofructokinase deficiency.
    PharmGKBiPA33216.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 780779ATP-dependent 6-phosphofructokinase, muscle typePRO_0000112016Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylthreonineBy similarity
    Glycosylationi530 – 5301O-linked (GlcNAc)By similarity
    Modified residuei667 – 6671Phosphoserine1 Publication
    Modified residuei775 – 7751PhosphoserineBy similarity

    Post-translational modificationi

    GlcNAcylation decreases enzyme activity.By similarity

    Keywords - PTMi

    Acetylation, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP08237.
    PaxDbiP08237.
    PRIDEiP08237.

    2D gel databases

    UCD-2DPAGEP08237.

    PTM databases

    PhosphoSiteiP08237.

    Miscellaneous databases

    PMAP-CutDBP08237.

    Expressioni

    Gene expression databases

    ArrayExpressiP08237.
    BgeeiP08237.
    CleanExiHS_PFKM.
    GenevestigatoriP08237.

    Organism-specific databases

    HPAiHPA002117.

    Interactioni

    Subunit structurei

    Homo- and heterotetramers. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself2EBI-514788,EBI-514788
    PFKLP178586EBI-514788,EBI-487243

    Protein-protein interaction databases

    BioGridi111234. 22 interactions.
    IntActiP08237. 7 interactions.
    MINTiMINT-5005297.
    STRINGi9606.ENSP00000352842.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4OMTX-ray6.00A1-780[»]
    ProteinModelPortaliP08237.
    SMRiP08237. Positions 9-756.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 390389N-terminal catalytic PFK domain 1Add
    BLAST
    Regioni164 – 1663Substrate bindingUniRule annotation
    Regioni208 – 2103Substrate bindingUniRule annotation
    Regioni298 – 3014Substrate bindingUniRule annotation
    Regioni391 – 40111Interdomain linkerAdd
    BLAST
    Regioni402 – 780379C-terminal regulatory PFK domain 2Add
    BLAST
    Regioni528 – 5325Allosteric activator fructose 2,6-bisphosphate bindingUniRule annotation
    Regioni573 – 5753Allosteric activator fructose 2,6-bisphosphate bindingUniRule annotation
    Regioni661 – 6644Allosteric activator fructose 2,6-bisphosphate bindingUniRule annotation

    Sequence similaritiesi

    Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily.UniRule annotation

    Phylogenomic databases

    eggNOGiCOG0205.
    HOGENOMiHOG000200154.
    HOVERGENiHBG000976.
    InParanoidiP08237.
    KOiK00850.
    OMAiVYHMASK.
    OrthoDBiEOG7ZSHV5.
    PhylomeDBiP08237.
    TreeFamiTF300411.

    Family and domain databases

    HAMAPiMF_03184. Phosphofructokinase_I_E.
    InterProiIPR009161. 6-phosphofructokinase_euk.
    IPR022953. Phosphofructokinase.
    IPR015912. Phosphofructokinase_CS.
    IPR000023. Phosphofructokinase_dom.
    [Graphical view]
    PfamiPF00365. PFK. 2 hits.
    [Graphical view]
    PIRSFiPIRSF000533. ATP_PFK_euk. 1 hit.
    PRINTSiPR00476. PHFRCTKINASE.
    SUPFAMiSSF53784. SSF53784. 2 hits.
    TIGRFAMsiTIGR02478. 6PF1K_euk. 1 hit.
    PROSITEiPS00433. PHOSPHOFRUCTOKINASE. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P08237-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MTHEEHHAAK TLGIGKAIAV LTSGGDAQGM NAAVRAVVRV GIFTGARVFF    50
    VHEGYQGLVD GGDHIKEATW ESVSMMLQLG GTVIGSARCK DFREREGRLR 100
    AAYNLVKRGI TNLCVIGGDG SLTGADTFRS EWSDLLSDLQ KAGKITDEEA 150
    TKSSYLNIVG LVGSIDNDFC GTDMTIGTDS ALHRIMEIVD AITTTAQSHQ 200
    RTFVLEVMGR HCGYLALVTS LSCGADWVFI PECPPDDDWE EHLCRRLSET 250
    RTRGSRLNII IVAEGAIDKN GKPITSEDIK NLVVKRLGYD TRVTVLGHVQ 300
    RGGTPSAFDR ILGSRMGVEA VMALLEGTPD TPACVVSLSG NQAVRLPLME 350
    CVQVTKDVTK AMDEKKFDEA LKLRGRSFMN NWEVYKLLAH VRPPVSKSGS 400
    HTVAVMNVGA PAAGMNAAVR STVRIGLIQG NRVLVVHDGF EGLAKGQIEE 450
    AGWSYVGGWT GQGGSKLGTK RTLPKKSFEQ ISANITKFNI QGLVIIGGFE 500
    AYTGGLELME GRKQFDELCI PFVVIPATVS NNVPGSDFSV GADTALNTIC 550
    TTCDRIKQSA AGTKRRVFII ETMGGYCGYL ATMAGLAAGA DAAYIFEEPF 600
    TIRDLQANVE HLVQKMKTTV KRGLVLRNEK CNENYTTDFI FNLYSEEGKG 650
    IFDSRKNVLG HMQQGGSPTP FDRNFATKMG AKAMNWMSGK IKESYRNGRI 700
    FANTPDSGCV LGMRKRALVF QPVAELKDQT DFEHRIPKEQ WWLKLRPILK 750
    ILAKYEIDLD TSDHAHLEHI TRKRSGEAAV 780
    Length:780
    Mass (Da):85,183
    Last modified:January 23, 2007 - v2
    Checksum:i769A2C01F97D1122
    GO
    Isoform 2 (identifier: P08237-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         282-312: Missing.

    Show »
    Length:749
    Mass (Da):81,776
    Checksum:iFA4B5D6B077EDC8B
    GO
    Isoform 3 (identifier: P08237-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MHKDEFHLKFFMCVIQSRQLVRTPQRTAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTVGSIPVFKTEWIM

    Note: No experimental confirmation available.Curated

    Show »
    Length:851
    Mass (Da):93,254
    Checksum:iA09ABE529E682EC4
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti670 – 6701P → S in BAC86498. (PubMed:14702039)Curated
    Isoform 3 (identifier: P08237-3)
    Sequence conflicti2 – 21H → L in BAC86498. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391R → L in GSD7; Ashkenazi.
    VAR_006063
    Natural varianti39 – 391R → P in GSD7; Italian. 1 Publication
    VAR_006064
    Natural varianti100 – 1001R → Q in GSD7; Swiss. 1 Publication
    Corresponds to variant rs2228500 [ dbSNP | Ensembl ].
    VAR_006065
    Natural varianti209 – 2091G → D in GSD7; French Canadian. 1 Publication
    VAR_006066
    Natural varianti543 – 5431D → A in GSD7; Italian. 1 Publication
    VAR_006067
    Natural varianti686 – 6861W → C in GSD7; Japanese. 1 Publication
    VAR_006068
    Natural varianti696 – 6961R → H in GSD7; Swiss. 1 Publication
    Corresponds to variant rs41291971 [ dbSNP | Ensembl ].
    VAR_006069

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MHKDEFHLKFFMCVIQSRQL VRTPQRTAGEASTSSMLIPK PPPKTDILKSLDTMDDPDTV GSIPVFKTEWIM in isoform 3. 1 PublicationVSP_046125
    Alternative sequencei282 – 31231Missing in isoform 2. 1 PublicationVSP_004667Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M59741
    , M59720, M59721, M59722, M59723, M59724, M59725, M59726, M59727, M59728, M59729, M59730, M59731, M59732, M59733, M59734, M59735, M59736, M59737, M59738, M59739, M59740 Genomic DNA. Translation: AAA82938.1.
    M26066 mRNA. Translation: AAA60068.1.
    Y00698 mRNA. Translation: CAA68692.1.
    AK126229 mRNA. Translation: BAC86498.1.
    AC004801 Genomic DNA. No translation available.
    AC074029 Genomic DNA. No translation available.
    BC000534 mRNA. Translation: AAH00534.1.
    BC012799 mRNA. Translation: AAH12799.1.
    BC013298 mRNA. Translation: AAH13298.1.
    BC021203 mRNA. Translation: AAH21203.1.
    J05533 mRNA. Translation: AAA79220.1.
    M24925 Genomic DNA. Translation: AAA36436.1.
    CCDSiCCDS53786.1. [P08237-3]
    CCDS8760.1. [P08237-1]
    PIRiA91605. KIHUFM.
    RefSeqiNP_000280.1. NM_000289.5. [P08237-1]
    NP_001160158.1. NM_001166686.1. [P08237-3]
    NP_001160159.1. NM_001166687.1. [P08237-1]
    NP_001160160.1. NM_001166688.1. [P08237-1]
    XP_005269034.1. XM_005268977.1. [P08237-3]
    XP_005269035.1. XM_005268978.2. [P08237-3]
    XP_005269036.1. XM_005268979.1. [P08237-3]
    XP_006719526.1. XM_006719463.1. [P08237-1]
    XP_006719527.1. XM_006719464.1. [P08237-1]
    UniGeneiHs.75160.

    Genome annotation databases

    EnsembliENST00000312352; ENSP00000309438; ENSG00000152556. [P08237-1]
    ENST00000340802; ENSP00000345771; ENSG00000152556. [P08237-3]
    ENST00000359794; ENSP00000352842; ENSG00000152556. [P08237-1]
    ENST00000547587; ENSP00000449426; ENSG00000152556. [P08237-1]
    ENST00000551804; ENSP00000448177; ENSG00000152556. [P08237-2]
    GeneIDi5213.
    KEGGihsa:5213.
    UCSCiuc001rra.2. human. [P08237-1]
    uc001rrg.2. human. [P08237-2]

    Polymorphism databases

    DMDMi125126.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M59741
    , M59720 , M59721 , M59722 , M59723 , M59724 , M59725 , M59726 , M59727 , M59728 , M59729 , M59730 , M59731 , M59732 , M59733 , M59734 , M59735 , M59736 , M59737 , M59738 , M59739 , M59740 Genomic DNA. Translation: AAA82938.1 .
    M26066 mRNA. Translation: AAA60068.1 .
    Y00698 mRNA. Translation: CAA68692.1 .
    AK126229 mRNA. Translation: BAC86498.1 .
    AC004801 Genomic DNA. No translation available.
    AC074029 Genomic DNA. No translation available.
    BC000534 mRNA. Translation: AAH00534.1 .
    BC012799 mRNA. Translation: AAH12799.1 .
    BC013298 mRNA. Translation: AAH13298.1 .
    BC021203 mRNA. Translation: AAH21203.1 .
    J05533 mRNA. Translation: AAA79220.1 .
    M24925 Genomic DNA. Translation: AAA36436.1 .
    CCDSi CCDS53786.1. [P08237-3 ]
    CCDS8760.1. [P08237-1 ]
    PIRi A91605. KIHUFM.
    RefSeqi NP_000280.1. NM_000289.5. [P08237-1 ]
    NP_001160158.1. NM_001166686.1. [P08237-3 ]
    NP_001160159.1. NM_001166687.1. [P08237-1 ]
    NP_001160160.1. NM_001166688.1. [P08237-1 ]
    XP_005269034.1. XM_005268977.1. [P08237-3 ]
    XP_005269035.1. XM_005268978.2. [P08237-3 ]
    XP_005269036.1. XM_005268979.1. [P08237-3 ]
    XP_006719526.1. XM_006719463.1. [P08237-1 ]
    XP_006719527.1. XM_006719464.1. [P08237-1 ]
    UniGenei Hs.75160.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4OMT X-ray 6.00 A 1-780 [» ]
    ProteinModelPortali P08237.
    SMRi P08237. Positions 9-756.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111234. 22 interactions.
    IntActi P08237. 7 interactions.
    MINTi MINT-5005297.
    STRINGi 9606.ENSP00000352842.

    Chemistry

    BindingDBi P08237.
    ChEMBLi CHEMBL3291.

    PTM databases

    PhosphoSitei P08237.

    Polymorphism databases

    DMDMi 125126.

    2D gel databases

    UCD-2DPAGE P08237.

    Proteomic databases

    MaxQBi P08237.
    PaxDbi P08237.
    PRIDEi P08237.

    Protocols and materials databases

    DNASUi 5213.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000312352 ; ENSP00000309438 ; ENSG00000152556 . [P08237-1 ]
    ENST00000340802 ; ENSP00000345771 ; ENSG00000152556 . [P08237-3 ]
    ENST00000359794 ; ENSP00000352842 ; ENSG00000152556 . [P08237-1 ]
    ENST00000547587 ; ENSP00000449426 ; ENSG00000152556 . [P08237-1 ]
    ENST00000551804 ; ENSP00000448177 ; ENSG00000152556 . [P08237-2 ]
    GeneIDi 5213.
    KEGGi hsa:5213.
    UCSCi uc001rra.2. human. [P08237-1 ]
    uc001rrg.2. human. [P08237-2 ]

    Organism-specific databases

    CTDi 5213.
    GeneCardsi GC12P048501.
    HGNCi HGNC:8877. PFKM.
    HPAi HPA002117.
    MIMi 232800. phenotype.
    610681. gene.
    neXtProti NX_P08237.
    Orphaneti 371. Glycogen storage disease due to muscle phosphofructokinase deficiency.
    PharmGKBi PA33216.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0205.
    HOGENOMi HOG000200154.
    HOVERGENi HBG000976.
    InParanoidi P08237.
    KOi K00850.
    OMAi VYHMASK.
    OrthoDBi EOG7ZSHV5.
    PhylomeDBi P08237.
    TreeFami TF300411.

    Enzyme and pathway databases

    UniPathwayi UPA00109 ; UER00182 .
    BioCyci MetaCyc:HS07832-MONOMER.
    Reactomei REACT_1383. Glycolysis.
    SABIO-RK P08237.

    Miscellaneous databases

    ChiTaRSi PFKM. human.
    GeneWikii PFKM.
    GenomeRNAii 5213.
    NextBioi 20164.
    PMAP-CutDB P08237.
    PROi P08237.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P08237.
    Bgeei P08237.
    CleanExi HS_PFKM.
    Genevestigatori P08237.

    Family and domain databases

    HAMAPi MF_03184. Phosphofructokinase_I_E.
    InterProi IPR009161. 6-phosphofructokinase_euk.
    IPR022953. Phosphofructokinase.
    IPR015912. Phosphofructokinase_CS.
    IPR000023. Phosphofructokinase_dom.
    [Graphical view ]
    Pfami PF00365. PFK. 2 hits.
    [Graphical view ]
    PIRSFi PIRSF000533. ATP_PFK_euk. 1 hit.
    PRINTSi PR00476. PHFRCTKINASE.
    SUPFAMi SSF53784. SSF53784. 2 hits.
    TIGRFAMsi TIGR02478. 6PF1K_euk. 1 hit.
    PROSITEi PS00433. PHOSPHOFRUCTOKINASE. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system."
      Yamasaki T., Nakajima H., Kono N., Hotta K., Yamada K., Imai E., Kuwajima M., Noguchi T., Tanaka T., Tarui S.
      Gene 104:277-282(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Muscle.
    2. "Cloning and expression of a human muscle phosphofructokinase cDNA."
      Sharma P.M., Reddy G.R., Vora S., Babior B.M., McLachlan A.
      Gene 77:177-183(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Muscle.
    3. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Muscle.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Thymus.
    5. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain and Muscle.
    7. "Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase."
      Sharma P.M., Reddy G.R., Babior B.M., McLachlan A.
      J. Biol. Chem. 265:9006-9010(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 272-681 (ISOFORM 2).
      Tissue: Muscle.
    8. "Human 6-phosphofructo-1-kinase gene has an additional intron upstream of start codon."
      Valdez B.C., Chen Z., Sosa M.G., Younathan E.S., Chang S.H.
      Gene 76:167-169(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-28.
      Tissue: Muscle.
    9. "Mutations in muscle phosphofructokinase gene."
      Raben N., Sherman J.B.
      Hum. Mutat. 6:1-6(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON GSD7 VARIANTS.
    10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-667, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency."
      Tsujino S., Servidei S., Tonin P., Shanske S., Azan G., DiMauro S.
      Am. J. Hum. Genet. 54:812-819(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GSD7 PRO-39 AND ALA-543.
    13. "Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency."
      Raben N., Exelbert R., Spiegel R., Sherman J.B., Plotz P., Heinisch J.J.
      Am. J. Hum. Genet. 56:131-141(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GSD7 GLN-100; ASP-209 AND HIS-696.
    14. "Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII."
      Hamaguchi T., Nakajima H., Noguchi T., Nakagawa C., Kuwajima M., Kono N., Tarui S., Matsuzawa Y.
      Hum. Mutat. 8:273-275(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GSD7 CYS-686.

    Entry informationi

    Entry nameiPFKAM_HUMAN
    AccessioniPrimary (citable) accession number: P08237
    Secondary accession number(s): J3KNX3
    , Q16814, Q16815, Q6ZTT1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1988
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 168 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet) isoenzymes.

    Keywords - Technical termi

    3D-structure, Allosteric enzyme, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3