ceramide synthase 3

Summary
Gene Symbol
  • CERS3
Aliases
  • MGC27091
Organism
Homo sapiens (human)
External Links
NCBI Gene
204219
HGNC
23752
KEGG Gene ID
hsa:204219
PubChem
204219
Alliance of Genome Resources
Annotation
Keyword
  • Endoplasmic reticulum
  • Ichthyosis
  • Lipid biosynthesis
  • Phosphoprotein
  • Reference proteome
  • Transferase
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q8IU89
  • Dihydroceramide synthase 3
  • LAG1 longevity assurance homolog 3
  • Sphingosine N-acyltransferase CERS3
  • Ultra-long-chain ceramide synthase CERS3
  • Very-long-chain ceramide synthase CERS3
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000154227

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
K24622
Name
very-long-chain ceramide synthase / ultra-long-chain ceramide synthase [EC:2.3.1.297 2.3.1.298]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 32 in total
DO ID Disease Name Source
DOID:0050428 nonepidermolytic palmoplantar keratoderma
DOID:0050475 Weill-Marchesani syndrome
DOID:0060655 autosomal recessive congenital ichthyosis
DOID:0060656 autosomal recessive congenital ichthyosis 1
DOID:0060710 autosomal recessive congenital ichthyosis 2
DOID:0060711 autosomal recessive congenital ichthyosis 3
DOID:0060712 autosomal recessive congenital ichthyosis 4A
DOID:0060714 autosomal recessive congenital ichthyosis 5
DOID:0060715 autosomal recessive congenital ichthyosis 6
DOID:0060716 autosomal recessive congenital ichthyosis 7
The Human Phenotype Ontology
Displaying entries 1 - 10 of 18 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000365 Hearing impairment
HP:0000491 Keratitis
HP:0000656 Ectropion
HP:0000962 Hyperkeratosis
HP:0000966 Hypohidrosis
HP:0000982 Palmoplantar keratoderma
HP:0000989 Pruritus
HP:0001019 Erythroderma
HP:0001508 Failure to thrive
Displaying all 2 entries
Disease ID Disease Name
OMIM:615023
  • autosomal recessive congenital ichthyosis 9
ORPHA:79394
  • congenital non-bullous ichthyosiform erythroderma
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP012383
Gene Name
ceramide synthase 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024