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FLASH GENE

Symbol

MPDU1

contributors: mct/npt - updated : 18-09-2009

HGNC name	mannose-P-dolichol utilization defect 1
HGNC id	7207

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDG1F congenital disorder of glycosylation, type 1F
Location	17p13.1      Physical location : 7.486.964 - 7.491.525
Synonym name	suppressor of Lec15 and Lec35 glycosylation mutation
	homolog
	HBeAg-binding protein 2 binding protein A
Synonym symbol(s)	SL15, LEC35, PQLC5, HBEBP2BPA, LEC35p, FLJ14836, My008, PP3958

DNA

TYPE	functioning gene
STRUCTURE	4.57 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D17S1828 - D17S796 - D17S938 - TP53 - MPDU1 - RPL26 - D17S786 - cen
Authors	GeneMap (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004870 7 - 1634 NP_004861 - 247 - Anand (2001)

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 esophagus       highly   intestine small intestine     predominantly   intestine large intestine colon   moderately   pancreas exocrine       highly Lymphoid/Immune lymph node       highly Nervous brain       moderately Reproductive female system placenta     moderately   female system uterus cervix   highly   female system breast         male system prostate     moderately Respiratory lung       highly Skin/Tegument skin       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     moderately Connective bone     moderately Muscular striatum cardiac     Nervous central

cell lineage	germ cells
cell lines
fluid/secretion	lymph

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two potential member spanning segments
	likely C terminal endoplasmic reticulum retention signal
	two PQ-loop domains

HOMOLOGY

interspecies	ortholog to rattus Mpdu1 (87.9pc)
	ortholog to murine Mpdu1 (90.7pc)

Homologene

FAMILY

MPDU1 family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	cytosilic C and N termini

basic FUNCTION	required for utilization of the mannose donor mannose-P-dolichol (MPD) in synthesis of both lipid-linked oligosaccharides (LLOs) and glycosylphosphatidylinositols, which are important for functions such as protein folding and membrane anchoring (Anand (2001)
	controls an aspect of mannose-P-dolichol (MPD) orientation in the endoplasmic reticulum membrane that is crucial for its activity as a donor substrate (Anand 2001)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CDG1F

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS