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 1 - 10 of 48 in total
DO ID Disease Name Source
DOID:0050545 visceral heterotaxy
DOID:0050589 inflammatory bowel disease
DOID:0050841 focal hand dystonia
DOID:529 blepharospasm
DOID:5520 head and neck squamous cell carcinoma
DOID:6000 congestive heart failure
DOID:0060162 dentatorubral-pallidoluysian atrophy
DOID:0060192 Crohn's colitis
DOID:0060772 multiple types of congenital heart defects 6
DOID:0080218 primary spontaneous pneumothorax
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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024