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FLASH GENE

Symbol

B3GALT6

contributors: mct - updated : 12-07-2013

HGNC name	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
HGNC id	17978

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_080605 1 - 2793 NP_542172 37 329 - 2001 11210191

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 Cardiovascular heart       highly Digestive intestine       highly Reproductive male system testis     lowly Skeleton         highly Homo sapiens Skin/Tegument skin       moderately Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Homo sapiens Connective cartilage     highly Homo sapiens Connective dense ligament   moderately Homo sapiens Connective dense tendon   moderately Homo sapiens Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	low in embryo

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N linked glycosylation site

HOMOLOGY

interspecies	homolog to Drosophila brainiac
	homolog to murine B3galt6

Homologene

FAMILY

glycosyltransferase 31 family

CATEGORY

enzyme

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

basic FUNCTION	transfer of galactose from UDP-galactose acceptors containing a terminal beta-linked galactose residue
	galactosyltransferase activity
	plays a critical role in a wide range of biological processes in various tissues, including skin, bone, cartilage, tendon, and ligament
	crucial role for B3GALT6 in multiple major developmental and pathophysiological processes

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	involved in the glycosaminoglycan biosynthesis

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SEMDJL1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS