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FLASH GENE

Symbol

GALT

contributors: mct/npt - updated : 25-08-2009

HGNC name	galactose-1-phosphate uridylyltransferase
HGNC id	4135

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	3.94 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   enhancer
text structure	carbohydrate response element (CHORE) and one nuclear protein of the B/HLH/L2 family is necessary for the carbohydrate response

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	cotranscripted and intergenically spliced with IL1R1

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000155 11 - 1347 NP_000146 44 379 - Magrangeas, Carney (2009) NM_147131 - - 2603 NP_667342 - 126 - Magrangeas NM_147132 - - 2200 NP_667343 - 162 - -

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

galactose-1-phosphate uridylyltransferase type 1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION

involved in the second step of galactose metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GALTD

related resource

Galactosaemia Galactose-1-Phosphate Uridyl Transferase Mutation Analysis Database Research

Susceptibility

Variant & Polymorphism other	mutation K285N associated with idiopathic presenile cataract

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS