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FLASH GENE

Symbol

WBSCR17

contributors: mct - updated : 23-12-2016

HGNC name	Williams-Beuren syndrome chromosome region 17
HGNC id	16347

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	7q11.23      Physical location : 70.597.788 - 71.178.583
Synonym name	polypeptide N-acetylgalactosaminyltransferase WBSCR17
Synonym symbol(s)	GALNTL3, ppGalNAc-T17, GALNT16, GALNT20, GALNACT17, GalNAc-T5L
EC.number	2.4.1.41

DNA

TYPE	functioning gene
STRUCTURE	581.19 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

in a region commonly deleted in Williams-Beuren syndrome

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022479 11 - 3518 NP_071924 - 598 - 2010 20977886

EXPRESSION

Type	restricted

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       moderately Homo sapiens Digestive liver       moderately Homo sapiens Lymphoid/Immune spleen       moderately Homo sapiens Nervous brain       specific Homo sapiens Respiratory lung       moderately Homo sapiens Urinary kidney       moderately Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid         Nervous central     predominantly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	placenta,brain,liver,kidney,heart

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	ricin type beta trefoil domain
	a glycosyltransferase domain

HOMOLOGY

interspecies

homolog to C.elegans R10h10.1

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi
text	located predominantly in the Golgi apparatus

basic FUNCTION	transferring sugar from UDP-N-acetylgalactosamine
	brain-specific expression of WBSCR17 suggested its involvement in brain development, through O-glycosylation of proteins in the neurons
	plays important roles in lamellipodium formation and the regulation of macropinocytosis as well as lysosomes
	involved in O-glycosylation, which is involved in the uptake of extracellular fluid/solutes by a GlcNAc-dependent regulatory mechanism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

biosynthesis of disaccharides

a component

INTERACTION

DNA

RNA

small molecule

metal binding,

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS