dehydrodolichyl diphosphate synthase subunit

Summary
Gene Symbol
  • DHDDS
Aliases
  • DS
  • FLJ13102
  • HDS
  • RP59
  • hCIT
Organism
Homo sapiens (human)
External Links
NCBI Gene
79947
HGNC
20603
KEGG Gene ID
hsa:79947
PubChem
79947
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • Epilepsy
  • Intellectual disability
  • Lipid metabolism
  • Magnesium
  • Membrane
  • Metal-binding
  • Reference proteome
  • Retinitis pigmentosa
  • Transferase
Proteins
Displaying 1 entry
UniProt Protein Name
Q86SQ9
  • Cis-isoprenyltransferase
  • Cis-prenyltransferase subunit hCIT
  • Epididymis tissue protein Li 189m
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000117682

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K11778
Name
ditrans,polycis-polyprenyl diphosphate synthase [EC:2.5.1.87]
References
Disease
Disease Ontology
Displaying entries 171 - 180 of 186 in total
DO ID Disease Name Source
DOID:7912 mixed oligodendroglioma-astrocytoma
DOID:83 cataract
DOID:8466 retinal degeneration
DOID:8577 ulcerative colitis
DOID:8675 obsolete ymphosarcoma
DOID:8712 neurofibromatosis
DOID:8717 decubitus ulcer
DOID:8778 Crohn's disease
DOID:9119 acute myeloid leukemia
DOID:9256 colorectal cancer
The Human Phenotype Ontology
Displaying entries 11 - 20 of 95 in total
HPO ID HPO Term
HP:0000407 Sensorineural hearing impairment
HP:0000494 Downslanted palpebral fissures
HP:0000501 Glaucoma
HP:0000504 Abnormality of vision
HP:0000505 Visual impairment
HP:0000508 Ptosis
HP:0000510 Rod-cone dystrophy
HP:0000512 Abnormal electroretinogram
HP:0000543 Optic disc pallor
HP:0000546 Retinal degeneration
Displaying all 4 entries
Disease ID Disease Name
OMIM:617836
  • developmental delay and seizures with or without movement abnormalities
ORPHA:442835
  • developmental and epileptic encephalopathy, 58
  • developmental delay and seizures with or without movement abnormalities
  • intellectual disability, X-linked, syndromic, Houge type
  • intellectual disability, autosomal dominant 55, with seizures
  • intellectual disability, autosomal dominant 56
  • undetermined early-onset epileptic encephalopathy
ORPHA:791
  • Leber congenital amaurosis 14
  • Leber congenital amaurosis 4
  • retinitis pigmentosa
OMIM:613861
  • retinitis pigmentosa 59

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