1. Gene
  2. PFKP - phosphofructokinase, platelet Gene

PFKP - phosphofructokinase, platelet Gene

Homo sapiens

Also known as PFKF; PFK-C; PFK-P; ATP-PFK

Gene ID: 5214 | Gene type: protein coding

About PFKP

Cytogenetic location: 10p15.2 Genomic coordinates (GRCh38): 10:3,067,548-3,136,805 (from NCBI)

This gene has 17 transcripts (splice variants), 296 orthologues and 2 paralogues. Broad expression in testis (RPKM 49.8), brain (RPKM 37.5) and 23 other tissues.

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]

PFKP Products(12)

mRNA Protein Name
NM_001242339.2 NP_001229268.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 2
NM_001323067.2 NP_001309996.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 3
NM_001323068.2 NP_001309997.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 4
NM_001323069.2 NP_001309998.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 5
NM_001323070.1 NP_001309999.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 6 precursor
NM_001323071.2 NP_001310000.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 7
NM_001323072.2 NP_001310001.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 7
NM_001323073.1 NP_001310002.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 8 precursor
NM_001323074.1 NP_001310003.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 8 precursor
NM_001345944.1 NP_001332873.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 7
NM_001410880.1 NP_001397809.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 9
NM_002627.5 NP_002618.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
25985179 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
enables protein-containing complex binding IDA
IDA: Inferred from direct assay
23209302 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
25468996 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PFKP Protein Structure

PFK

PFK: Phosphofructokinase (25 - 335)

PFK

PFK: Phosphofructokinase (413 - 697)

  • 0
  • 200
  • 400
  • 600
  • 784 a.a.
Protein Preferred Names Protein Names

ATP-dependent 6-phosphofructokinase, platelet type

6-phosphofructokinase type C

Recombinant PFKP Proteins

Cat. No. Product Name Accession Purity
HY-P75971 PFKP Protein, Human (sf9, His-GST) Q01813 (M1-V784) ≥95%

Related Diseases

Diseases Alias
Glycogen Storage Disease Vii

Glycogen Storage Disease Type Vii

Muscle Phosphofructokinase Deficiency

Tarui Disease

GSD7

Pfkm Deficiency

Gsd Vii

Glycogen Storage Disease, Type Vii

Glycogen Storage Disease Type 7

Phosphofructokinase Deficiency

Glycogenosis Type Vii

Phosphofructokinase Myopathy

Glycogenosis 7

Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency

Gsd Due To Muscle Phosphofructokinase Deficiency

Gsd Type 7

Gsd Type Vii

Glycogenosis Due To Muscle Phosphofructokinase Deficiency

Glycogenosis Type 7

Glycogen Storage Disease 7

Gsd-Vii

Storage Disease, Glycogen, Type Vii

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus PFKP VGNC VGNC:32775
Mus musculus PFKP MGD MGI:1891833
Macaca mulatta PFKP VGNC VGNC:84899
Rattus norvegicus PFKP RGD RGD:61893
Canis familiaris PFKP VGNC VGNC:44448
Others PFKP NCBI