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FLASH GENE

Symbol

PKLR

contributors: mct/npt - updated : 01-06-2009

HGNC name	pyruvate kinase, liver and RBC
HGNC id	9020

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PKLR pyruvate kinase deficiency of red cells PYKH high red cell ATP syndrome with pyruvate kinase hyperactivity
Location	1q22      Physical location : 155.259.085 - 155.271.225
Synonym name	R-type/L-type pyruvate kinase
	red cell/liver pyruvate kinase
	pyruvate kinase 1
	pyruvate kinase isozymes R/L
Synonym symbol(s)	PK1, PKL, RPK, PKR, PKRL
EC.number	2.7.1.40

DNA

TYPE	functioning gene
STRUCTURE	11.60 kb     12 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	a CTGTC motif in the promoter
	two CAC boxes in the 5'-flanking region upstream the first exon
	four GATA motifs within 250 bp from the translational initiation codon

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	with two isoforms, transcribed from a distinct promoter

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 2 11 splicing 3035 58.4 543 liver Kanno (1992) also known as type L using an alternate 5' exon as compared to variant 1 variant 1 11 splicing 3053 61.7 574 erythroytic Kanno (1992) also known as type R

EXPRESSION

Type	restricted

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       highly Skin/Tegument skin       moderately Urinary kidney       predominantly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , tetramer

HOMOLOGY

interspecies	homolog to rattus Pklr (92.6 pc)
	homolog to murine Pklr (91.6 pc)

Homologene

FAMILY

pyruvate kinase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION

basic FUNCTION	catalyzing the production of phosphoenolpyruvate from pyruvate and ATP
	plays an important role in the Tp53-mediated inhibition of translation under conditions of DNA damage (Yoon 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate , energetic

signaling

final step of glycolysis

a component

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor,
	Mg2+
	K+

protein

TP53 target gene and plays an important role in the tumor-suppressor function of TP53 (Yoon 2009)

cell & other

REGULATION

induced by

TP53 in response to the stress of DNA damage, plays an important role in the tumor-suppressor function of TP53 (Yoon 2009)

ASSOCIATED DISORDERS

corresponding disease(s)

PKLR , PYKH

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS