ceramide synthase 1

Summary
Gene Symbol
  • CERS1
Aliases
  • LAG1
  • UOG1
Organism
Homo sapiens (human)
External Links
NCBI Gene
10715
HGNC
14253
KEGG Gene ID
hsa:10715
PubChem
10715
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • Epilepsy
  • Lipid biosynthesis
  • Neurodegeneration
  • Proteomics identification
  • Reference proteome
  • Transferase
  • Transmembrane helix
Proteins
Displaying all 3 entries
UniProt Protein Name
P27544
  • LAG1 longevity assurance homolog 1
  • Longevity assurance gene 1 protein homolog 1
  • Protein UOG-1
  • Sphingoid base N-stearoyltransferase CERS1
Q5XG75
B4DE47
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K04710
Name
sphingoid base N-stearoyltransferase [EC:2.3.1.299]
References
Disease
Disease Ontology
Displaying entries 11 - 20 of 48 in total
DO ID Disease Name Source
DOID:0090103 Huntington's disease-like 1
DOID:0090104 Huntington's disease-like 2
DOID:0110892 inflammatory bowel disease 1
DOID:0111444 progressive myoclonus epilepsy 4
DOID:0111451 progressive myoclonus epilepsy 8
DOID:1059 intellectual disability
DOID:10652 Alzheimer's disease
DOID:10844 Japanese encephalitis
DOID:10881 hand, foot and mouth disease
DOID:11832 visual epilepsy
The Human Phenotype Ontology
Displaying entries 1 - 10 of 20 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000639 Nystagmus
HP:0000726 Dementia
HP:0000750 Delayed speech and language development
HP:0001249 Intellectual disability
HP:0001260 Dysarthria
HP:0001263 Global developmental delay
HP:0001266 Choreoathetosis
HP:0001272 Cerebellar atrophy
HP:0001288 Gait disturbance
Displaying 1 entry
Disease ID Disease Name
OMIM:616230
  • progressive myoclonic epilepsy type 8

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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