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FLASH GENE

Symbol

ALG8

contributors: mct/npt - updated : 25-09-2009

HGNC name	asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)
HGNC id	23161

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDG1H congenital disorder of the glycosylation, type 1H
Location	11q14.1      Physical location : 77.811.987 - 77.850.699
Synonym name	asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)
	dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase
	asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)
Synonym symbol(s)	MGC2840, HUSSY-02
EC.number	2.4.1.-

DNA

TYPE	functioning gene
STRUCTURE	38.71 kb     13 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024079 13 - 1668 NP_076984 60 526 - Otsuki, Schollen (2004) the shortest transcript, but encodes the longest isoform NM_001007027 14 - 1743 NP_001007028 - 467 - Otsuki, Schollen (2004) contains an additional segment in the coding region

EXPRESSION

Type

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 Nervous brain hindbrain cerebellum cerebellar cortex   Reproductive female system ovary

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cell lineage
cell lines	B cells (Ramos cell lines)
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	nine transmembrane domains
	an ER membrane domain

HOMOLOGY

interspecies

ortholog to murine Alg8

Homologene

FAMILY

Alg6/Alg8 glycosyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION

glycosyltransferase (adds the second glucose to the lipid-linked oligosaccharide precursor used in the N-glycosylation of protein)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CDG1H

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS