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

PFKP Protein Structure

PFK

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10367	PFKP Human Pre-designed siRNA Set A		/	Unkown

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