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FLASH GENE

Symbol

GALK1

contributors: - updated : 07-08-2007

HGNC name	galactokinase 1
HGNC id	4118

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GALK1D galactosemia, type 2
Location	17q24      Physical location : 73.754.018 - 73.761.280
Synonym symbol(s)	GK1, GALK ,GAL1
EC.number	2.7.1.6

DNA

TYPE	functioning gene
STRUCTURE	7.00 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type	ubiquitous

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         Endocrine parathyroid       highly Lymphoid/Immune tonsils       highly Nervous brain         Respiratory lung         Urinary kidney

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal domain dominated by a six-stranded mixed beta-sheet
	C-terminal motif with six alpha-helices and two layers of anti-parallel beta-sheet

HOMOLOGY

Homologene

FAMILY

GHMP kinase family, GALK subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION

major enzyme for galactose metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GALK1D

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS