PFKM phosphofructokinase, muscle [Homo sapiens (human)] - Gene

Summary

Official Symbol: PFKMprovided by HGNC
Official Full Name: phosphofructokinase, muscleprovided by HGNC
Primary source: HGNC:HGNC:8877
See related: Ensembl:ENSG00000152556 MIM:610681
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GSD7; PFK1; PFKA; PFKX; PFK-1; PFK-A; ATP-PFK; PPP1R122
Summary: Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
Expression: Broad expression in heart (RPKM 77.2), brain (RPKM 32.0) and 21 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 12q13.11

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	12	NC_000012.12 (48105253..48146404)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (48499656..48540187)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

KLK6 may be the key protease involved in the proteolytic modification of PFK-M.
Title: Kallikrein-related peptidase 6 can cleave human-muscle-type 6-phosphofructo-1-kinase into highly active shorter fragments.
Data indicate that 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase3 (PFKFB3) and phosphofructokinase (PFK1) expression allows discrimination between induced pluripotent stem cells (iPS) and cancer stem cells (CSCs).
Title: The expression pattern of PFKFB3 enzyme distinguishes between induced-pluripotent stem cells and cancer stem cells.
characterize three PFK1 mutations and show they have distinct effects on allosteric regulation of PFKP activity and lactate production.
Title: Structures of human phosphofructokinase-1 and atomic basis of cancer-associated mutations.
Gene-based analysis identified an association between breast cancer and the phosphofructokinase-muscle (PFKM) gene on chromosome 12q13.11 that met the genome-wide gene-based threshold of 2.5 x 10(-6).
Title: A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.
insulin/phosphofructokinase (PFKM), overlaps with an expression quantitative trait loci
Title: Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity.
Asp(543)Ala, a naturally occurring Tarui disease-causing mutation in the activating binding site, causes an increased efficacy of ATP at the inhibitory allosteric binding site.
Title: Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease.
Molecular genetic findings demonstrated the absence of specific genotype-phenotype correlations in PFKM gene mutations.
Title: Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
eukaryotic Pfk did not evolve from prokaryotic ancestors, reciprocal linkage of functionally opposed allosteric binding sites must have developed independently in prokaryotic and eukaryotic Pfk (convergent evolution).
Title: Functional linkage of adenine nucleotide binding sites in mammalian muscle 6-phosphofructokinase.
Posttranslational modification of PFK1 enzyme might be the pivotal factor of deregulated glycolytic flux in tumors
Title: Posttranslational modification of 6-phosphofructo-1-kinase as an important feature of cancer metabolism.
Data indicate that substitution of residue at the citrate-binding site (D591V) of PFK-M resulted in the complete loss of activity.
Title: Evolution of allosteric citrate binding sites on 6-phosphofructo-1-kinase.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Glycogen storage disease, type VII MedGen: C0017926 OMIM: 232800 GeneReviews: Not available	Compare labs

NHGRI GWAS Catalog

Description
GWAS of Longevity in CHARGE Consortium Confirms APOE and FOXO3 Candidacy. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of phosphofructokinase (muscle, PFKM) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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AMPK signaling pathway, organism-specific biosystem (from KEGG)
AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
AMPK signaling pathway, conserved biosystem (from KEGG)
AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
Biosynthesis of amino acids, organism-specific biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
Biosynthesis of amino acids, conserved biosystem (from KEGG)
Biosynthesis of amino acids, conserved biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
Carbon metabolism, organism-specific biosystem (from KEGG)
Carbon metabolism, organism-specific biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
Carbon metabolism, conserved biosystem (from KEGG)
Carbon metabolism, conserved biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
Central carbon metabolism in cancer, organism-specific biosystem (from KEGG)
Central carbon metabolism in cancer, organism-specific biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
Central carbon metabolism in cancer, conserved biosystem (from KEGG)
Central carbon metabolism in cancer, conserved biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
Fructose and mannose metabolism, organism-specific biosystem (from KEGG)
Fructose and mannose metabolism, organism-specific biosystem
Fructose and mannose metabolism
Fructose and mannose metabolism, conserved biosystem (from KEGG)
Fructose and mannose metabolism, conserved biosystem
Fructose and mannose metabolism
Galactose metabolism, organism-specific biosystem (from KEGG)
Galactose metabolism, organism-specific biosystem
Galactose metabolism
Galactose metabolism, conserved biosystem (from KEGG)
Galactose metabolism, conserved biosystem
Galactose metabolism
Glucose metabolism, organism-specific biosystem (from REACTOME)
Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
Glycolysis, organism-specific biosystem (from REACTOME)
Glycolysis, organism-specific biosystemThe reactions of glycolysis (e.g., van Wijk and van Solinge 2005) convert glucose 6-phosphate to pyruvate. The entire process is cytosolic. Glucose 6-phosphate is reversibly isomerized to form fructo...
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystem (from KEGG)
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystem (from KEGG)
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
Glycolysis / Gluconeogenesis, organism-specific biosystem (from KEGG)
Glycolysis / Gluconeogenesis, organism-specific biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
Glycolysis / Gluconeogenesis, conserved biosystem (from KEGG)
Glycolysis / Gluconeogenesis, conserved biosystemGlycolysis is the process of converting glucose into pyruvate and generating small amounts of ATP (energy) and NADH (reducing power). It is a central pathway that produces important precursor metabol...
Glycolysis and Gluconeogenesis, organism-specific biosystem (from WikiPathways)
Glycolysis and Gluconeogenesis, organism-specific biosystemGlycolysis is the metabolic pathway that converts glucose C6H12O6, into pyruvate, CH3COCOO? + H+. The free energy released in this process is used to form the ATP and NADH. Gluconeogenesis is a metab...
Insulin Signaling, organism-specific biosystem (from WikiPathways)
Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
Metabolic pathways, organism-specific biosystem (from KEGG)
Metabolic pathways, organism-specific biosystem
Metabolic pathways
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
Pentose phosphate pathway, organism-specific biosystem (from KEGG)
Pentose phosphate pathway, organism-specific biosystemThe pentose phosphate pathway is a process of glucose turnover that produces NADPH as reducing equivalents and pentoses as essential parts of nucleotides. There are two different phases in the pathwa...
Pentose phosphate pathway, conserved biosystem (from KEGG)
Pentose phosphate pathway, conserved biosystemThe pentose phosphate pathway is a process of glucose turnover that produces NADPH as reducing equivalents and pentoses as essential parts of nucleotides. There are two different phases in the pathwa...
RNA degradation, organism-specific biosystem (from KEGG)
RNA degradation, organism-specific biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
RNA degradation, conserved biosystem (from KEGG)
RNA degradation, conserved biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
Validated targets of C-MYC transcriptional activation, organism-specific biosystem (from Pathway Interaction Database)
Validated targets of C-MYC transcriptional activation, organism-specific biosystem
Validated targets of C-MYC transcriptional activation
glycolysis, organism-specific biosystem (from BIOCYC)
glycolysis, organism-specific biosystemGeneral Background Glycolysis is one of the oldest metabolic pathways which occurs within the cell cytosol in nearly all organisms. The free energy released by the conversion of : Glucopyranose "glu...
glycolysis III (from glucose), conserved biosystem (from BIOCYC)
glycolysis III (from glucose), conserved biosystemGeneral Background Glycolysis, which was first studied as a pathway for the utilization of glucose, is one of the major pathways of central metabolism, the other two being the |FRAME:PENTOSE-P-PWY| ...
homolactic fermentation, conserved biosystem (from BIOCYC)
homolactic fermentation, conserved biosystemGeneral Background Lactic acid fermentation is a process by which sugars such as glucose, fructose, and sucrose are converted into cellular energy and the metabolic byproduct lactate. It occurs in m...
superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle, organism-specific biosystem (from BIOCYC)
superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle, organism-specific biosystem
superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17705 (e-PCR)
- UniSTS:25108

SHGC-5984 (e-PCR)
- UniSTS:79131

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

GDB:375070 (e-PCR)
- UniSTS:156992

GDB:375075 (e-PCR)
- UniSTS:156993

GDB:375078 (e-PCR)
- UniSTS:156994

GDB:375081 (e-PCR)
- UniSTS:156995

GDB:375084 (e-PCR)
- UniSTS:156996

GDB:375087 (e-PCR)
- UniSTS:156997

D10S2448 (e-PCR)
- UniSTS:474444

RH71215 (e-PCR)
- UniSTS:30799

PFKM_8537 (e-PCR)
- UniSTS:468590

D15S1477 (e-PCR)
- UniSTS:474482

D12S2022 (e-PCR)
- UniSTS:65926

PFKM_intron19 (e-PCR)
- UniSTS:512646

GDB:542985 (e-PCR)
- UniSTS:157579

GDB:542997 (e-PCR)
- UniSTS:157582

D12S1157E (e-PCR)
- UniSTS:151439

D11S3114 (e-PCR)
- UniSTS:152207

GDB:581748 (e-PCR)
- UniSTS:157875

GDB:342275 (e-PCR)
- UniSTS:156644

RH17704 (e-PCR)
- UniSTS:59108

Pfkm (e-PCR), detects polymorphism
- UniSTS:507131

RH11170 (e-PCR)
- UniSTS:62204

Homology

Homologs of the PFKM gene: The PFKM gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 173 organisms have orthologs with human gene PFKM
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
6-phosphofructokinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
6-phosphofructokinase activity	IDA Inferred from Direct Assay more info	PubMed
6-phosphofructokinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
6-phosphofructokinase activity	ISS Inferred from Sequence or Structural Similarity more info
AMP binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ATP binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ATP binding	IDA Inferred from Direct Assay more info	PubMed
fructose binding	IDA Inferred from Direct Assay more info	PubMed
fructose-6-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
kinase binding	IPI Inferred from Physical Interaction more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
monosaccharide binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein C-terminus binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
canonical glycolysis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
canonical glycolysis	TAS Traceable Author Statement more info
carbohydrate phosphorylation	IEA Inferred from Electronic Annotation more info
fructose 1,6-bisphosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
fructose 6-phosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
fructose 6-phosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
fructose 6-phosphate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
glucose catabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
glucose homeostasis	IEA Inferred from Electronic Annotation more info
glycogen catabolic process	IEA Inferred from Electronic Annotation more info
glycolysis from storage polysaccharide through glucose-1-phosphate	IEA Inferred from Electronic Annotation more info
glycolytic process	IMP Inferred from Mutant Phenotype more info	PubMed
glycolytic process through fructose-6-phosphate	IMP Inferred from Mutant Phenotype more info	PubMed
muscle cell cellular homeostasis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
muscle cell cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
protein complex oligomerization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
6-phosphofructokinase complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
6-phosphofructokinase complex	IDA Inferred from Direct Assay more info	PubMed
apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
sperm principal piece	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: ATP-dependent 6-phosphofructokinase, muscle type

Names: 6-phosphofructo-1-kinase; 6-phosphofructokinase type A; 6-phosphofructokinase, muscle type; phosphofructo-1-kinase isozyme A; phosphofructokinase 1; phosphofructokinase, polypeptide X; phosphofructokinase-M; phosphohexokinase; protein phosphatase 1, regulatory subunit 122

NP_000280.1

EC 2.7.1.11

NP_001160158.1

EC 2.7.1.11

NP_001160159.1

EC 2.7.1.11

NP_001160160.1

EC 2.7.1.11

NP_001341664.1

EC 2.7.1.11

NP_001341665.1

EC 2.7.1.11

NP_001341666.1

EC 2.7.1.11

NP_001341667.1

EC 2.7.1.11

NP_001341668.1

EC 2.7.1.11

NP_001341669.1

EC 2.7.1.11

NP_001341670.1

EC 2.7.1.11

NP_001341671.1

EC 2.7.1.11

NP_001341672.1

EC 2.7.1.11

NP_001341673.1

EC 2.7.1.11

NP_001341674.1

EC 2.7.1.11

NP_001341675.1

EC 2.7.1.11

NP_001341676.1

EC 2.7.1.11

NP_001341677.1

EC 2.7.1.11

XP_005269031.1

EC 2.7.1.11

XP_005269033.1

EC 2.7.1.11

XP_005269036.1

EC 2.7.1.11

XP_011536789.1

EC 2.7.1.11

XP_016874958.1

EC 2.7.1.11

XP_024304788.1

EC 2.7.1.11

XP_024304789.1

EC 2.7.1.11

XP_024304790.1

EC 2.7.1.11

XP_024304791.1

EC 2.7.1.11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016199.2 RefSeqGene

Range

19112..46152

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000289.6 → NP_000280.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2

See identical proteins and their annotated locations for NP_000280.1

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as type C) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3, 4, 12, 13, and 14 encode the same isoform (2).

Source sequence(s)

BC000534, BC021203, BU683561, DA525437

Consensus CDS

CCDS8760.1

UniProtKB/Swiss-Prot

P08237

UniProtKB/TrEMBL

A0A024R0Y5

Related

ENSP00000352842.5, ENST00000359794.10

Conserved Domains (1) summary

cd00764
Location:13 → 774

Eukaryotic_PFK; 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 ...
NM_001166686.2 → NP_001160158.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 1

See identical proteins and their annotated locations for NP_001160158.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) (also known as TE-PFKM) encodes isoform 1. Variants 1, 7, 8, and 9 encode the same isoform (1).

Source sequence(s)

BC000534, BC021203, BU683561, DB081387

Consensus CDS

CCDS53786.1

UniProtKB/Swiss-Prot

P08237

Related

ENSP00000345771.6, ENST00000340802.11

Conserved Domains (1) summary

cd00764
Location:84 → 845

Eukaryotic_PFK; 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 ...
NM_001166687.1 → NP_001160159.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2

See identical proteins and their annotated locations for NP_001160159.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as type A) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3, 4, 12, 13, and 14 encode the same isoform (2).

Source sequence(s)

BC000534, BU683561, DA560355, Y00698

Consensus CDS

CCDS8760.1

UniProtKB/Swiss-Prot

P08237

UniProtKB/TrEMBL

A0A024R0Y5

Related

ENSP00000309438.7, ENST00000312352.11

Conserved Domains (1) summary

cd00764
Location:13 → 774

Eukaryotic_PFK; 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 ...
NM_001166688.1 → NP_001160160.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2

See identical proteins and their annotated locations for NP_001160160.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as type B) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2, 3, 4, 12, 13, and 14 encode the same isoform (2).

Source sequence(s)

BC000534, BU683561, DA761651

Consensus CDS

CCDS8760.1

UniProtKB/Swiss-Prot

P08237

UniProtKB/TrEMBL

A0A024R0Y5

Related

ENSP00000449426.1, ENST00000547587.5

Conserved Domains (1) summary

cd00764
Location:13 → 774

Eukaryotic_PFK; 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 ...
NM_001354735.1 → NP_001341664.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 3

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Consensus CDS

CCDS86294.1

Related

ENSP00000496597.1, ENST00000642730.1

Conserved Domains (1) summary

cd00764
Location:116 → 877

Eukaryotic_PFK; 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 ...
NM_001354736.1 → NP_001341665.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 3

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Consensus CDS

CCDS86294.1

Conserved Domains (1) summary

cd00764
Location:116 → 877

Eukaryotic_PFK; 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 ...
NM_001354737.1 → NP_001341666.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 1

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Consensus CDS

CCDS53786.1

Conserved Domains (1) summary

cd00764
Location:84 → 845

Eukaryotic_PFK; 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 ...
NM_001354738.1 → NP_001341667.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 1

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Consensus CDS

CCDS53786.1

Conserved Domains (1) summary

cd00764
Location:84 → 845

Eukaryotic_PFK; 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 ...
NM_001354739.1 → NP_001341668.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 1

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Consensus CDS

CCDS53786.1

Conserved Domains (1) summary

cd00764
Location:84 → 845

Eukaryotic_PFK; 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 ...
NM_001354740.1 → NP_001341669.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 4

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Conserved Domains (1) summary

cd00764
Location:61 → 822

Eukaryotic_PFK; 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 ...
NM_001354741.1 → NP_001341670.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 5

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Conserved Domains (1) summary

cd00764
Location:21 → 782

Eukaryotic_PFK; 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 ...
NM_001354742.1 → NP_001341671.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Consensus CDS

CCDS8760.1

Related

ENSP00000450369.2, ENST00000550345.6

Conserved Domains (1) summary

cd00764
Location:13 → 774

Eukaryotic_PFK; 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 ...
NM_001354743.1 → NP_001341672.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Consensus CDS

CCDS8760.1

Related

ENSP00000446945.2, ENST00000550924.6

Conserved Domains (1) summary

cd00764
Location:13 → 774

Eukaryotic_PFK; 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 ...
NM_001354744.1 → NP_001341673.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Consensus CDS

CCDS8760.1

Related

ENSP00000448253.2, ENST00000551339.6

Conserved Domains (1) summary

cd00764
Location:13 → 774

Eukaryotic_PFK; 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 ...
NM_001354745.1 → NP_001341674.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 6

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Conserved Domains (1) summary

cd00764
Location:1 → 745

Eukaryotic_PFK; 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 ...
NM_001354746.1 → NP_001341675.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 7

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Conserved Domains (1) summary

cd00764
Location:13 → 732

Eukaryotic_PFK; 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 ...
NM_001354747.1 → NP_001341676.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 8

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Conserved Domains (1) summary

cd00764
Location:3 → 724

Eukaryotic_PFK; 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 ...
NM_001354748.1 → NP_001341677.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 8

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

Conserved Domains (1) summary

cd00764
Location:3 → 724

Eukaryotic_PFK; 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 ...
NM_001363619.1 → NP_001350548.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 9

Status: REVIEWED

Source sequence(s)

AC004801, AC074029, KU178252

Consensus CDS

CCDS86295.1

Conserved Domains (1) summary

cd00764
Location:13 → 743

Eukaryotic_PFK; 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 ...

RNA

NR_148954.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004801, AC074029, U24183

Related

ENST00000546964.5
NR_148955.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004801, AC074029, AK126020

Related

ENST00000547581.5
NR_148956.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004801, AC074029
NR_148957.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004801, AC074029
NR_148958.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004801, AC074029
NR_148959.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004801, AC074029

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p12 Primary Assembly

Range

48105253..48146404

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005268976.3 → XP_005269033.1 ATP-dependent 6-phosphofructokinase, muscle type isoform X1

See identical proteins and their annotated locations for XP_005269033.1

Conserved Domains (1) summary

cd00764
Location:116 → 877

Eukaryotic_PFK; 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 ...
XM_024449021.1 → XP_024304789.1 ATP-dependent 6-phosphofructokinase, muscle type isoform X6

Related

ENSP00000446829.2, ENST00000549941.6

Conserved Domains (1) summary

cd00764
Location:46 → 807

Eukaryotic_PFK; 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 ...
XM_024449020.1 → XP_024304788.1 ATP-dependent 6-phosphofructokinase, muscle type isoform X3

Conserved Domains (1) summary

cd00764
Location:87 → 848

Eukaryotic_PFK; 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 ...
XM_005268974.1 → XP_005269031.1 ATP-dependent 6-phosphofructokinase, muscle type isoform X1

See identical proteins and their annotated locations for XP_005269031.1

Conserved Domains (1) summary

cd00764
Location:116 → 877

Eukaryotic_PFK; 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 ...
XM_017019469.1 → XP_016874958.1 ATP-dependent 6-phosphofructokinase, muscle type isoform X5
XM_005268979.1 → XP_005269036.1 ATP-dependent 6-phosphofructokinase, muscle type isoform X4

See identical proteins and their annotated locations for XP_005269036.1

UniProtKB/Swiss-Prot

P08237

Conserved Domains (1) summary

cd00764
Location:84 → 845

Eukaryotic_PFK; 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 ...
XM_011538487.1 → XP_011536789.1 ATP-dependent 6-phosphofructokinase, muscle type isoform X2

Conserved Domains (2) summary

cd00764
Location:116 → 846

Eukaryotic_PFK; 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 ...

TIGR02478
Location:119 → 827

6PF1K_euk; 6-phosphofructokinase, eukaryotic type
XM_024449023.1 → XP_024304791.1 ATP-dependent 6-phosphofructokinase, muscle type isoform X8

Related

ENSP00000448177.1, ENST00000551804.5

Conserved Domains (1) summary

cd00764
Location:13 → 743

Eukaryotic_PFK; 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 ...
XM_024449022.1 → XP_024304790.1 ATP-dependent 6-phosphofructokinase, muscle type isoform X7

Conserved Domains (1) summary

cd00764
Location:13 → 774

Eukaryotic_PFK; 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 ...