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FLASH GENE

Symbol

HK1

contributors: mct/npt - updated : 19-04-2010

HGNC name	hexokinase 1
HGNC id	4922

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HK1 hemolytic anemia including type I HMSNR hereditary motor and sensory neuropathy, Russe type
Location	10q22.1      Physical location : 71.029.755 - 71.161.635
Synonym name	brain form hexokinase
	glycolytic enzyme
Synonym symbol(s)	HK1-ta, HK1-tb, HKI, HXK1, HK1-tc
EC.number	2.7.1.1

DNA

TYPE	functioning gene
STRUCTURE	131.88 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

five exons, five in 5'utr, one in intron 1 (Ruzzo)

MAPPING

cloned

Y

linked

N

status

confirmed

Physical map

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000188 18 - 3617 NP_000179 - 917 - Nishi, Daniele (1992) also called variant 1 (HKI) NM_033496 18 initiation site 3614 NP_277031 - 916 erythroid specific Murakami, Ruzzo, Daniele (1992) also called variant 2 or HKI-R variant 6 - splicing initiation site - isoform 6 - - testis specific Andreoni, Ruzzo also called HK-T1 variant 7 - splicing 630 isoform 7 - - testis specific Ruzzo also called T2A-T2 variant 8 - splicing 620 isoform 8 - - testis specific - also called T2A-T3 variant 9 - splicing 760 isoform 9 - - - - also called T2A-T6 NM_033497 21 - 3832 NP_277032 - 921 - Skaff, Daniele (1992) also called variant 3 or HKI-ta includes four testis-specific exons in the 5' end NM_033498 21 - 3886 NP_277033 - 921 - Skaff, Daniele (1992) also called variant 4 or HKI-tb four testis-specific exons in the 5' end NM_033500 22 - 3979 NP_277035 - 905 - Skaff, Daniele (1992) also called variant 5 or HKI-td five testis-specific exons in the 5' end

EXPRESSION

Type	ubiquitous

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 Endocrine thyroid       highly Lymphoid/Immune tonsils       highly Reproductive female system breast mammary gland   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cell lineage	universally (HK1),erythroid cells (other isoform)
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	regulatory region including a mitochondrial porin-binding domain at the N terminal, protein domain responsible for binding to the outer mitochondrial membrane, and regulation of energy production and apoptosis (Hantke 2009)
	a catalytic half carboxy-terminal

HOMOLOGY

interspecies

homolog to rattus Hk1

Homologene

FAMILY

hexokinase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	key enzymes of glycolysis that catalyzes the phosphorylation of glucose to glucose-6-phosphate (de Vooght 2009)
	may influence A1C levels through its anemic effect or its effect on glucose metabolism in red blood cells (Bonnefond 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binding HDAC1, in the outer mitochondrial membrane (VDAC1-based peptides interfering with HK-mediated anti-apoptotic activity may potentiate the efficacy of conventional chemotherapeutic agents)(Arzoine 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HK1 , HMSNR

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   reduced erythroid transcription of HK1 together with aberrant splicing of both HK1 and red cell specific-hexokinase results in hexokinase deficiency and mild chronic hemolysis (de Vooght 2009)

Susceptibility

to variation of glycated hemoglobin levels in a non-diabetic population

Variant & Polymorphism other	association between glycated hemoglobin levels and HK1 polymorphisms (Pare 2008)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS