DHDDS (dehydrodolichyl diphosphate synthase subunit)

2014-11-01  

Identity

HGNC
DHDDS
LOCATION
1p36.11
LOCUSID
79947
ALIAS
CIT,CPT,DEDSM,DS,HDS,RP59,hCIT
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
342751432022Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.4
342751432022Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.4
321786302020HOXB4 promotes the malignant progression of ovarian cancer via DHDDS.7
328174662020Structural elucidation of the cis-prenyltransferase NgBR/DHDDS complex reveals insights in regulation of protein glycosylation.17
330777232020Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex.12
321786302020HOXB4 promotes the malignant progression of ovarian cancer via DHDDS.7
328174662020Structural elucidation of the cis-prenyltransferase NgBR/DHDDS complex reveals insights in regulation of protein glycosylation.17
330777232020Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex.12
316618792019Structural Characterization of Full-Length Human Dehydrodolichyl Diphosphate Synthase Using an Integrative Computational and Experimental Approach.6
316618792019Structural Characterization of Full-Length Human Dehydrodolichyl Diphosphate Synthase Using an Integrative Computational and Experimental Approach.6
292760522018Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.15
292760522018Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.15
288424902017A conserved C-terminal RXG motif in the NgBR subunit of cis-prenyltransferase is critical for prenyltransferase activity.24
288424902017A conserved C-terminal RXG motif in the NgBR subunit of cis-prenyltransferase is critical for prenyltransferase activity.24
273430642016A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.32

Citation

Dessen P

DHDDS (dehydrodolichyl diphosphate synthase subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62461/dhdds-(dehydrodolichyl-diphosphate-synthase-subunit)