DHDDS (dehydrodolichyl diphosphate synthase subunit)

2014-11-01  

Identity

HGNC
LOCATION
1p36.11
LOCUSID
ALIAS
CIT,CPT,DEDSM,DS,HDS,RP59,hCIT
FUSION GENES

Other Information

Locus ID:

NCBI: 79947
MIM: 608172
HGNC: 20603
Ensembl: ENSG00000117682

Variants:

dbSNP: 79947
ClinVar: 79947
TCGA: ENSG00000117682
COSMIC: DHDDS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117682ENST00000236342Q86SQ9
ENSG00000117682ENST00000360009Q86SQ9
ENSG00000117682ENST00000374185Q5T0A1
ENSG00000117682ENST00000416052H0Y4T1
ENSG00000117682ENST00000427245E9PI09
ENSG00000117682ENST00000430232Q5T0A3
ENSG00000117682ENST00000431933Q5T0A6
ENSG00000117682ENST00000434391Q5T0A0
ENSG00000117682ENST00000436153Q5T0A2
ENSG00000117682ENST00000525165E9PRS7
ENSG00000117682ENST00000525326E9PL99
ENSG00000117682ENST00000525546E9PSH7
ENSG00000117682ENST00000525682Q86SQ9
ENSG00000117682ENST00000526219Q86SQ9
ENSG00000117682ENST00000530781E9PKJ5
ENSG00000117682ENST00000531312E9PI64
ENSG00000117682ENST00000533087E9PR24

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Terpenoid backbone biosynthesisKEGGko00900
Terpenoid backbone biosynthesisKEGGhsa00900
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Synthesis of Dolichyl-phosphateREACTOMER-HSA-446199

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
212952832011Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.59
212952822011A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.45
125916162003Identification of human dehydrodolichyl diphosphate synthase gene.15
146520222003Identification and characterization of a cDNA encoding a long-chain cis-isoprenyltranferase involved in dolichyl monophosphate biosynthesis in the ER of brain cells.13
273430642016A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.11
252553642015Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.8
288424902017A conserved C-terminal RXG motif in the NgBR subunit of cis-prenyltransferase is critical for prenyltransferase activity.7
158507702005Polyprenyl lipid synthesis in mammalian cells expressing human cis-prenyl transferase.4
246646942014Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.4

Citation

Dessen P

DHDDS (dehydrodolichyl diphosphate synthase subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62461/dhdds