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FLASH GENE

Symbol

DHDDS

contributors: mct - updated : 28-12-2017

HGNC name	dehydrodolichyl diphosphate synthase
HGNC id	20603

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDG1BB congenital disorder of glycosylation, type I BB RPD retinis pigmentosa, DHDDS related
Location	1p36.11      Physical location : 26.758.801 - 26.797.793
Synonym name	dedol-PP synthase
	cis-prenyl transferase
Synonym symbol(s)	DS, HDS, FLJ13102, CIT, CPT, RP59
EC.number	2.5.1.87

DNA

TYPE	functioning gene
STRUCTURE	39.03 kb     9 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_024887 9 - 3315 - 334 - 2003 14652022 NM_205861 9 - 3312 38.7 333 - 2003 14652022 NM_001319959 9 - 3363 NP_001306888 - 240 - 2003 14652022 NM_001243564 8 - 3238 NP_001230493 - 299 - 2003 14652022 NM_001243565 8 - 3223 NP_001230494 - 294 - 2003 14652022

EXPRESSION

Type	ubiquitous

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 liver       lowly Endocrine thyroid       highly Nervous nerve cranial nerve     highly Reproductive male system prostate     moderately   male system testis     highly Urinary kidney       highly Visual eye retina     highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N-linked glycosylation site (Asn-X-Ser(Thr)

HOMOLOGY

interspecies	homolog to rattus Rn.24616
	homolog to murine 3222401G21Rik

Homologene

FAMILY

UPP synthetase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	located in the endoplasmic reticulum

basic FUNCTION	implicated in the levels of dolichol-oligosaccharide intermediate biosynthesis
	biosynthetic precursor for dolichol which plays an important role as a sugar-carrier lipid in the biosynthesis of glycoprotein in eukaryotic cells
	essential enzyme for dolichol synthesis, permitting global N-linked glycosylation
	key protein for the generation and continuous renewal of photoreceptor outer segments
	connects the upstream mevalonate pathway to the membrane-bound N-linked glycosylation machinery supported by a multitude of enzymes and cofactors
	key enzyme in the pathway of dolichol, which plays an important role in N-glycosylation of many glycoproteins, including rhodopsin
	is an eukaryotic cis prenyltransferase (cis-PT) that catalyzes chain elongation of farnesyl diphosphate via multiple condensations with isopentenyl diphosphate to form dehydrodolichyl diphosphate, a precursor for the glycosyl carrier dolichylpyrophophate involved in N-linked glycosylation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	specific interaction with NPC2
	NUS1 physically interacts with DHDDS to stabilize the dehydrodolichyl diphosphate synthase complex and potentiate its enzymatic activity

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RPD , CDG1BB

Susceptibility

to Developmental and epileptic encephalopathy (DEE)

Variant & Polymorphism other	de novo missense mutation c.632G>A (p.Arg211Gln) associated with DEE

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurosensorial     target of specific therapeutic options for RP

ANIMAL & CELL MODELS