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FLASH GENE

Symbol

GK

contributors: mct - updated : 07-04-2007

HGNC name	glycerol kinase
HGNC id	4289

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GKD glycerol kinase deficiency
Location	Xp22.3-p21.3      Physical location : 30.671.475 - 30.748.724
Synonym symbol(s)	GKD, GK1
EC.number	2.7.1.30

DNA

TYPE	functioning gene
STRUCTURE	77.00 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   enhancer
text structure	a functional HNF4A consensus binding sites in the 5' upstream region, important for increased levels of GK expression

MAPPING

cloned

Y

linked

status

confirmed

Map	pter - (RDXP2 ,DXS68 ) - DXS67 - DXS669 - DXS28 - DXS1086 - DXS1101 - DXS1147 - DXS1149 - DXS1088 - DXS727 - DXS1074 - DXS319 - DXS1075 - DXS1076 - DXS1077 - DXS708 - GK 5' - DXS1078 - GK 3' - DXS1079 - DXS1080 - DXS1081 - DXS726 - DMD DMD 3' - cen
Authors	Ellison (93)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 3591 isoform a - 530 - Stepanian (03) 19 exons variant 2 - - 3573 isoform b 57 524 - Stepanian (03) lacks an alternate in frame exon

EXPRESSION

Type

widely

constitutive of

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   pharynx       highly Nervous nerve cranial nerve     highly Reproductive male system testis     highly Urinary kidney       highly

tissue

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

cell lineage
cell lines
fluid/secretion	sperm

at STAGE

physiological period

fetal

Text

liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to murine Gyk
	homolog to rattus Gyk

Homologene

FAMILY

FGGY kinase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytosolic
text	bound to mitochondria in sperm and fetal tissues, but found in cytoplasm in adult tissues

basic FUNCTION	catalyzing the phosphorylation of glycerol to glycerol-3-phosphate
	key enzyme in the regulation of glycerol uptake and metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GKD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

glycerol kinase-deficient mice, mutant male mice appeared normal at birth, but exhibited postnatal growth retardation, altered fat metabolism with profound hyperglycerolemia and elevated free fatty acids, autonomous glucocorticoid synthesis, and death by 3 to 4 days of age whereas heterozygous females were healthy and biochemically normal