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P08237

- PFKAM_HUMAN

UniProt

P08237 - PFKAM_HUMAN

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Protein
ATP-dependent 6-phosphofructokinase, muscle type
Gene
PFKM, PFKX
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

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.UniRule annotation

Pathwayi

Sites

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi88 – 892ATP By similarity
Nucleotide bindingi118 – 1214ATP By similarity

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 C-terminus binding Source: HGNC
  8. protein binding Source: IntAct

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
Complete GO annotation...

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 type (EC:2.7.1.11)
Short name:
ATP-PFK
Short name:
PFK-M
Alternative name(s):
6-phosphofructokinase type A
Phosphofructo-1-kinase isozyme A
Short name:
PFK-A
Phosphohexokinase
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 By similarity 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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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 – 11Removed By similarity
Chaini2 – 780779ATP-dependent 6-phosphofructokinase, muscle typeUniRule annotation
PRO_0000112016Add
BLAST

Amino acid modifications

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

Post-translational modificationi

GlcNAcylation decreases enzyme activity By similarity.UniRule annotation

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. 21 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.

Family & Domainsi

Region

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

Sequence similaritiesi

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.

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

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.
VSP_046125
Alternative sequencei282 – 31231Missing in isoform 2.
VSP_004667Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti670 – 6701P → S in BAC86498. 1 Publication
Isoform 3 (identifier: P08237-3)
Sequence conflicti2 – 21H → L in BAC86498. 1 Publication

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]
ENST00000395233; ENSP00000378656; ENSG00000152556. [P08237-2]
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. 21 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 ]
ENST00000395233 ; ENSP00000378656 ; ENSG00000152556 . [P08237-2 ]
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 167 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

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