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FLASH GENE

Symbol

GALNT3

contributors: mct - updated : 03/10/2008

HGNC name	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
HGNC id	4125

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FTC1 familial tumoral calcinosis 1
Location	2q24.3      Physical location : 166.604.312 - 166.650.803
Synonym name	galactosamine:UDP-N-acetyl-alpha-D-polypeptide T3
	polypeptide N-acetylgalactosaminyltransferase 3
	protein-UDP acetylgalactosaminyltransferase
Synonym symbol(s)	GalNAc-T3, HFTC, HHS, MGC61909, DKFZp686C10199
EC.number	2.4.1.41

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	46.50 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004482 10 - 3280 NP_004473 72.6 633 - 2007 17351710

EXPRESSION

Type

widely

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 esophagus       highly   intestine large intestine colon   highly   mouth       highly Reproductive female system ovary     highly Homo sapiens   male system testis     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive germ cell Homo sapiens Reproductive oocyte Homo sapiens Reproductive spermatozoa Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	near the N terminus, a stem region, a lumenal catalytic domain
	a GT1 motif and Ga1/Ga1 NAc transferase motif
	a C terminal ricin/lectin-like domain, including a QXW lectin repeat

HOMOLOGY

interspecies

ortholog to bovine galnt3

Homologene

FAMILY	glycosyltransferase 2 family
	GalNAc-T subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION	catalyzing the initial reaction in O-linked (mucin type) oligosaccharide biosynthesis
	possessing substrate specificity for fibronectin (fetal and plasma)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	Ca2+
	Mn2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FTC1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in pancreas non differentiated

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS