LOCUS NP_002618 784 aa linear PRI 25-DEC-2023
DEFINITION ATP-dependent 6-phosphofructokinase, platelet type isoform 1 [Homo
sapiens].
ACCESSION NP_002618
VERSION NP_002618.1
DBSOURCE REFSEQ: accession NM_002627.5
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 784)
AUTHORS Yang S, Wu H, Li Y, Li L, Xiang J, Kang L, Yang G and Liang Z.
TITLE Inhibition of PFKP in renal tubular epithelial cell restrains
TGF-beta induced glycolysis and renal fibrosis
JOURNAL Cell Death Dis 14 (12), 816 (2023)
PUBMED 38086793
REMARK GeneRIF: Inhibition of PFKP in renal tubular epithelial cell
restrains TGF-beta induced glycolysis and renal fibrosis.
Publication Status: Online-Only
REFERENCE 2 (residues 1 to 784)
AUTHORS Huang Y, Xiong C, Wang C, Deng J, Zuo Z, Wu H, Xiong J, Wu X, Lu H,
Hao Q and Zhou X.
TITLE p53-responsive CMBL reprograms glucose metabolism and suppresses
cancer development by destabilizing phosphofructokinase PFKP
JOURNAL Cell Rep 42 (11), 113426 (2023)
PUBMED 37967006
REMARK GeneRIF: p53-responsive CMBL reprograms glucose metabolism and
suppresses cancer development by destabilizing phosphofructokinase
PFKP.
REFERENCE 3 (residues 1 to 784)
AUTHORS Chen C and Zhang X.
TITLE Glycolysis regulator PFKP induces human melanoma cell proliferation
and tumor growth
JOURNAL Clin Transl Oncol 25 (7), 2183-2191 (2023)
PUBMED 36792847
REMARK GeneRIF: Glycolysis regulator PFKP induces human melanoma cell
proliferation and tumor growth.
REFERENCE 4 (residues 1 to 784)
AUTHORS Lee JH.
TITLE Phosphofructokinase 1 Platelet Isoform Enhances VEGF Expression in
Part Through HIF-1alpha Up-regulation in Breast Cancer
JOURNAL Anticancer Res 43 (1), 75-84 (2023)
PUBMED 36585185
REMARK GeneRIF: Phosphofructokinase 1 Platelet Isoform Enhances VEGF
Expression in Part Through HIF-1alpha Up-regulation in Breast
Cancer.
REFERENCE 5 (residues 1 to 784)
AUTHORS Webb BA, Forouhar F, Szu FE, Seetharaman J, Tong L and Barber DL.
TITLE Structures of human phosphofructokinase-1 and atomic basis of
cancer-associated mutations
JOURNAL Nature 523 (7558), 111-114 (2015)
PUBMED 25985179
REFERENCE 6 (residues 1 to 784)
AUTHORS Moon JS, Kim HE, Koh E, Park SH, Jin WJ, Park BW, Park SW and Kim
KS.
TITLE Kruppel-like factor 4 (KLF4) activates the transcription of the
gene for the platelet isoform of phosphofructokinase (PFKP) in
breast cancer
JOURNAL J Biol Chem 286 (27), 23808-23816 (2011)
PUBMED 21586797
REMARK GeneRIF: KLF4 plays a role in maintenance of high glycolytic
metabolism by transcriptional activation of the PFKP gene in breast
cancer cells.
REFERENCE 7 (residues 1 to 784)
AUTHORS Morrison N, Simpson C, Fothergill-Gilmore L, Boyd E and Connor JM.
TITLE Regional chromosomal assignment of the human platelet
phosphofructokinase gene to 10p15
JOURNAL Hum Genet 89 (1), 105-106 (1992)
PUBMED 1533608
REFERENCE 8 (residues 1 to 784)
AUTHORS Simpson CJ and Fothergill-Gilmore LA.
TITLE Isolation and sequence of a cDNA encoding human platelet
phosphofructokinase
JOURNAL Biochem Biophys Res Commun 180 (1), 197-203 (1991)
PUBMED 1834056
REFERENCE 9 (residues 1 to 784)
AUTHORS Meienhofer,M.C., Lagrange,J.L., Cottreau,D., Lenoir,G.,
Dreyfus,J.C. and Kahn,A.
TITLE Phosphofructokinase in human blood cells
JOURNAL Blood 54 (2), 389-400 (1979)
PUBMED 156568
REFERENCE 10 (residues 1 to 784)
AUTHORS Kahn,A., Meienhofer,M.C., Cottreau,D., Lagrange,J.L. and
Dreyfus,J.C.
TITLE Phosphofructokinase (PFK) isozymes in man. I. Studies of adult
human tissues
JOURNAL Hum Genet 48 (1), 93-108 (1979)
PUBMED 156693
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC029138.1, BC002536.1 and
AL451164.13.
This sequence is a reference standard in the RefSeqGene project.
Summary: This gene encodes a member of the phosphofructokinase A
protein family. The encoded enzyme is the platelet-specific isoform
of phosphofructokinase and plays a key role in glycolysis
regulation. This gene may play a role in metabolic reprogramming in
some cancers, including clear cell renal cell carcinomas, and
cancer of the bladder, breast, and lung. Alternative splicing
results in multiple transcript variants. [provided by RefSeq, Sep
2016].
Transcript Variant: This variant (1) encodes the longest isoform
(1).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR3476690.833132.1,
SRR1803614.266192.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1965299, SAMEA1966682
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000381125.9/ ENSP00000370517.4
RefSeq Select criteria :: based on expression
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..784
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="10"
/map="10p15.2"
Protein 1..784
/product="ATP-dependent 6-phosphofructokinase, platelet
type isoform 1"
/EC_number="2.7.1.11"
/note="6-phosphofructokinase type C; phosphohexokinase;
phosphofructokinase 1; phosphofructo-1-kinase isozyme C;
6-phosphofructokinase, platelet type; ATP-dependent
6-phosphofructokinase, platelet type"
/calculated_mol_wt=85465
Region 1..399
/region_name="N-terminal catalytic PFK domain 1"
/note="propagated from UniProtKB/Swiss-Prot (Q01813.2)"
Site 1
/site_type="acetylation"
/note="N-acetylmethionine.
/evidence=ECO:0007744|PubMed:19413330; propagated from
UniProtKB/Swiss-Prot (Q01813.2)"
Site 6
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:23186163; propagated from
UniProtKB/Swiss-Prot (Q01813.2)"
Site 12
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:P47859; propagated from
UniProtKB/Swiss-Prot (Q01813.2)"
Site 21
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:23186163; propagated from
UniProtKB/Swiss-Prot (Q01813.2)"
Region 22..783
/region_name="Eukaryotic_PFK"
/note="Phosphofructokinase, a key regulatory enzyme in
glycolysis, catalyzes the phosphorylation of
fructose-6-phosphate to fructose-1,6-biphosphate. The
members belong to a subfamily of the PFKA family (cd00363)
and include eukaryotic ATP-dependent...; cd00764"
/db_xref="CDD:238389"
Site 142
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:P47860; propagated from
UniProtKB/Swiss-Prot (Q01813.2)"
Site 386
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000269|PubMed:33607258,
ECO:0007744|PubMed:16964243, ECO:0007744|PubMed:18669648,
ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:20068231,
ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
propagated from UniProtKB/Swiss-Prot (Q01813.2)"
Site 395
/site_type="acetylation"
/note="N6-acetyllysine.
/evidence=ECO:0007744|PubMed:19608861; propagated from
UniProtKB/Swiss-Prot (Q01813.2)"
Region 400..411
/region_name="Interdomain linker"
/note="propagated from UniProtKB/Swiss-Prot (Q01813.2)"
Region 412..784
/region_name="C-terminal regulatory PFK domain 2"
/note="propagated from UniProtKB/Swiss-Prot (Q01813.2)"
Site 486
/site_type="acetylation"
/note="N6-acetyllysine.
/evidence=ECO:0007744|PubMed:19608861; propagated from
UniProtKB/Swiss-Prot (Q01813.2)"
Site 540
/site_type="glycosylation"
/note="O-linked (GlcNAc) serine. /evidence=ECO:0000250;
propagated from UniProtKB/Swiss-Prot (Q01813.2)"
Site 651
/site_type="phosphorylation"
/note="Phosphotyrosine.
/evidence=ECO:0007744|PubMed:15592455; propagated from
UniProtKB/Swiss-Prot (Q01813.2)"
Site 688
/site_type="acetylation"
/note="N6-acetyllysine.
/evidence=ECO:0007744|PubMed:19608861; propagated from
UniProtKB/Swiss-Prot (Q01813.2)"
Site 783
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:18669648,
ECO:0007744|PubMed:18691976, ECO:0007744|PubMed:19690332,
ECO:0007744|PubMed:20068231; propagated from
UniProtKB/Swiss-Prot (Q01813.2)"
CDS 1..784
/gene="PFKP"
/gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
/coded_by="NM_002627.5:49..2403"
/note="isoform 1 is encoded by transcript variant 1"
/db_xref="CCDS:CCDS7059.1"
/db_xref="GeneID:5214"
/db_xref="HGNC:HGNC:8878"
/db_xref="MIM:171840"
ORIGIN
1 mdaddsrapk gslrkflehl sgagkaigvl tsggdaqgmn aavravvrmg iyvgakvyfi
61 yegyqgmvdg gsniaeadwe svssilqvgg tiigsarcqa frtregrlka acnllqrgit
121 nlcviggdgs ltganlfrke wsglleelar ngqidkeavq kyaylnvvgm vgsidndfcg
181 tdmtigtdsa lhriievvda imttaqshqr tfvlevmgrh cgylalvsal acgadwvflp
241 esppeegwee qmcvklsenr arkkrlniii vaegaidtqn kpitsekike lvvtqlgydt
301 rvtilghvqr ggtpsafdri lasrmgveav ialleatpdt pacvvslngn havrlplmec
361 vqmtqdvqka mderrfqdav rlrgrsfagn lntykrlaik lpddqipktn cnvavinvga
421 paagmnaavr savrvgiadg hrmlaiydgf dgfakgqike igwtdvggwt gqggsilgtk
481 rvlpgkylee iatqmrthsi nalliiggfe aylgllelsa arekheefcv pmvmvpatvs
541 nnvpgsdfsi gadtalntit dtcdrikqsa sgtkrrvfii etmggycgyl anmgglaaga
601 daayifeepf dirdlqsnve hltekmktti qrglvlrnes csenyttdfi yqlyseegkg
661 vfdcrknvlg hmqqggapsp fdrnfgtkis aramewitak lkeargrgkk fttddsicvl
721 giskrnvifq pvaelkkqtd fehripkeqw wlklrplmki lakykasydv sdsgqlehvq
781 pwsv
//
