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FLASH GENE

Symbol

PFKM

contributors: mct/npt - updated : 22-09-2015

HGNC name	phosphofructokinase, muscle
HGNC id	8877

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	26.86 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	at least two promoter regions

MAPPING

cloned

Y

linked

Y

status

provisional

Map	pter - D12S345 - cen - D12S85 - PFKM - D12S361 - D12S347 - D12S368 - D12S390 - D12S96 - qter
Authors	Howard (96)

regionally located

previously assigned to chr 1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000289 23 - 3234 NP_000280 85 780 - Yamada (2004) NM_001166686 - - 3536 NP_001160158 - 851 - Yamada (2004) NM_001166687 - - 3088 NP_001160159 - 780 - Yamada (2004) NM_001166688 - - 3177 NP_001160160 - 780 - Yamada (2004)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive intestine small intestine       Gustatory (taste) tongue       highly Nervous brain       highly Reproductive male system testis       Respiratory lung         Skin/Tegument skin         Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

tetramer

HOMOLOGY

Homologene

FAMILY

phosphofructokinase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	rate-limiting enzyme in glycolysis
	muscle isoform of phosphofructokinase (PFK), which phosphorylates fructose-6-phosphate to fructose-1,6-bisphosphate, commiting glucose to glycolysis (Garcia 2009)
	glycolytic efficiency, which is important for the survival of cancer cells, depends primarily on the preferential expression of PFKL over the PFKM and PFKP isoforms

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

coagulation/hemostasis

PATHWAY

metabolism

energetic , monocarbon

signaling

	fructose metabolism
	energy pathway
	glucose metabolism
	glycogen metabolism

a component

INTERACTION

DNA

RNA

small molecule	metal binding, nucleotide,
	Mg2+
	ATP

protein

cell & other

REGULATION

activated by	ADP
	AMP
	fructose bisphosphate

inhibited by	ATP
	citrate

ASSOCIATED DISORDERS

corresponding disease(s)

GSD7

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Pfkm(-/-) mice had high lethality around weaning and reduced lifespan, because of the metabolic alterations (Garcia 2009)