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 41 - 50 of 186 in total
DO ID Disease Name Source
DOID:10534 stomach cancer
DOID:10584 retinitis pigmentosa
DOID:10652 Alzheimer's disease
DOID:1074 kidney failure
DOID:10907 microcephaly
DOID:1094 attention deficit hyperactivity disorder
DOID:11054 urinary bladder cancer
DOID:11105 fundus albipunctatus
DOID:11328 schizophreniform disorder
DOID:11383 cryptorchidism
The Human Phenotype Ontology
Displaying entries 81 - 90 of 95 in total
HPO ID HPO Term
HP:0007843 Attenuation of retinal blood vessels
HP:0007994 Peripheral visual field loss
HP:0008046 Abnormal retinal vascular morphology
HP:0008936 Axial hypotonia
HP:0010844 EEG with multifocal slow activity
HP:0011150 Myoclonic absence seizure
HP:0011443 Abnormality of coordination
HP:0011505 Cystoid macular edema
HP:0011968 Feeding difficulties
HP:0012444 Brain atrophy
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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