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FLASH GENE

Symbol

PDSS1

contributors: mct/npt - updated : 02-02-2010

HGNC name	prenyl (decaprenyl) diphosphate synthase, subunit 1
HGNC id	17759

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	COQ10D2 coenzyme Q10 deficiency 2
Location	10p12.1      Physical location : 26.986.594 - 27.035.724
Synonym name	polyprenyl-pyrophosphate synthetase
	subunit 1 of decaprenyl diphosphate synthase
	trans-prenyltransferase
	coenzyme Q1 homolog (yeast)
	decaprenyl pyrophosphate synthetase subunit 1
Synonym symbol(s)	TPT, COQ1, MGC70953, RP13-16H11.3, TPRT, DPS1, SPS
EC.number	2.5.1.-

DNA

TYPE	functioning gene
STRUCTURE	49.13 kb     12 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_014317 12 - 1679 NP_055132 - 415 - -

EXPRESSION

Type

widely

constitutive of

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 Digestive intestine large intestine colon   highly Lymphoid/Immune thymus       highly Visual eye uvea choroid

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Epithelial barrier/lining retinal pigment epithelium (RPE)

cells

System Cell Pubmed Species Stage Rna symbol visual eye

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to yeast COQ1

Homologene

FAMILY

FPP/GGPP synthetases family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,matrix
text	peripherally associated with the matrix face of the inner membrane

basic FUNCTION	catalyzing the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis
	key enzyme of CoQ10 synthesis (Mollet 2007)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

part of the CoQ(10) biosynthetic pathways with ADCK3, PDSS2, COQ2, COQ6, COQ9

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

COQ10D2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in ubiquinone deficiency and oxidative phosphorylation disorders (Mollet 2007)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS