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 1 - 10 of 186 in total
DO ID Disease Name Source
DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I
DOID:0050569 Seckel syndrome
DOID:0050572 cone-rod dystrophy
DOID:0050589 inflammatory bowel disease
DOID:0050590 severe congenital neutropenia
DOID:0050591 tooth agenesis
DOID:0050782 Zollinger-Ellison syndrome
DOID:0050841 focal hand dystonia
DOID:0050902 medulloblastoma
DOID:0060058 lymphoma
The Human Phenotype Ontology
Displaying entries 1 - 10 of 95 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000035 Abnormal testis morphology
HP:0000054 Micropenis
HP:0000083 Renal insufficiency
HP:0000135 Hypogonadism
HP:0000252 Microcephaly
HP:0000348 High forehead
HP:0000405 Conductive hearing impairment
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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