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FLASH GENE

Symbol

PFKL

contributors: mct - updated : 22-09-2015

HGNC name	phosphofructokinase, liver
HGNC id	8876

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PFKL hemolytic anemia with myopathy
Location	21q22.3      Physical location : 45.719.924 - 45.747.260
Synonym symbol(s)	PFKC, PFK1, PFKB, ATP-PFK
EC.number	2.7.1.11

DNA

TYPE	functioning gene
STRUCTURE	27.35 kb     25 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - TMEM1 - D21S1460 - PWP2H - C21orf33 - D21S141 - CBS - CRYAA - D21S112 - D21S25 - D21S1461 - PFKL PFKL - C21orf2 - D21S154 - D21S400 - D21S170 - D21S171 - D21S1903 - SUMO3 - ITGB2 - D21S1897 - ADARB1 - COL18A1 - SLC19A1 - D21S44 - D21S112 - COL6A1 - LSS - COL6A2 - PCNT2 - S100B - D21S1446 - qter
Authors	Petersen (91), Delabar (92), Gardiner (92), Chumakov (92), Falik-Borenstein (92), Kudoh (97), Lapenta (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001002021 25 - 3412 NP_001002021 - 830 - - NM_002626 22 - 2934 NP_002617 - 780 - -

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 Digestive liver

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

tetramer

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	energy patway
	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
	is modified with OGT in cancer cells, and glycosylation is increased specifically under conditions associated with tumorigenesis and tumor growth
	PFKL glycosylation contributes to cell proliferation and tumor growth
	catalyses the committed step of the glycolytic pathway by converting fructose-6-phosphate to fructose-1,6-bisphosphate

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

fructose metabolism

a component

INTERACTION

DNA

RNA

small molecule

protein

NXN, a thioredoxin-related oxidoreductase, is a novel interacting partner of PFKL

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PFKL

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     blocking PFKL glycosylation to enhance its activity and reset cellular metabolism toward normal cell growth could therefore provide a new strategy to combat cancer

ANIMAL & CELL MODELS