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FLASH GENE

Symbol

DPM3

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

HGNC name	dolichyl-phosphate mannosyltransferase polypeptide 3
HGNC id	3007

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDG1O congenital disorder of glycosylation 1O
Location	1q21.2      Physical location : 155.112.368 - 155.112.996
Synonym name	prostin 1
	DPM synthase complex subunit 3
	mannose-P-dolichol synthase subunit 3
Synonym symbol(s)	MGC34275, MGC125904, MGC125905
EC.number	2.4.1.83

DNA

TYPE	functioning gene
STRUCTURE	0.63 kb     2 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

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_153741 2 - 417 NP_714963 10 92 - Gregory (2006) NM_018973 1 - 532 NP_061846 13.1 122 - Gregory (2006)

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 Cardiovascular heart       highly Endocrine pancreas       moderately Nervous brain       highly Reproductive male system prostate     moderately Respiratory lung       moderately Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains	two putative N terminal transmembrane domains, showed no specific functions
	one hydrophilic C terminal portion
	near the C terminus, a coiled-coil domain for DPM1 binding (Lefeber 2009) was important for tethering DPM1, the catalytic subunit of the enzyme, to the endoplasmic reticulum membrane and, therefore, was critical for enzyme activity (Ashida 2006)

HOMOLOGY

interspecies

homolog to C.elegans y56H1A.2

Homologene

FAMILY

DPM3 family

CATEGORY

enzyme

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

basic FUNCTION	stabilizator of DPM1 with enzyme activity
	required for synthesis of the glycosylphosphatidylinositol (GPI) anchor, N-glycan precursor, protein O-mannose, and C-mannose (Ashida 2006)
	plays an important role in four different glycosylation routes in the ER (Lefeber 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

N-glycosylation

a component

INTERACTION

DNA

RNA

small molecule

protein

association to DPM1 to DPM2 by its C and N terminus respectively (DPM1 was rapidly degraded by the proteasome in the absence of DPM3) (Ashida 2006)

cell & other

REGULATION

Other

regulated by phospholipase C gamma

ASSOCIATED DISORDERS

corresponding disease(s)

CDG1O

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in invasive prostate tumor

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS