GlyCosmos Portal

Submissions

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

HGNC:14253

JoGo

CERS1

TogoVar

CERS1

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
B4DE47
Q5XG75

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 15 in total

1

2

3

Next ›

Last »
GO Term	Evidence Code	PMID
sphingolipid metabolic process	IEA
brain development
negative regulation of cardiac muscle hypertrophy	IEA
sphingolipid biosynthetic process	TAS
sphingolipid biosynthetic process	IDA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

sphingolipid metabolic process

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to xenobiotic stimulus

cellular response to toxic substance [inference]

cellular response to mycotoxin

cellular response to oxygen-containing compound [inference]

cellular response to dithiothreitol

cellular response to environmental stimulus [inference]

cellular response to abiotic stimulus [inference]

cellular response to radiation [inference]

cellular response to light stimulus [inference]

cellular response to UV [inference]

cellular response to UV-A

developmental process [inference]

anatomical structure development [inference]

animal organ development [inference]

brain development

response to stimulus [inference]

response to abiotic stimulus [inference]

response to radiation [inference]

response to light stimulus [inference]

response to UV [inference]

cellular response to UV [inference]

cellular response to UV-A

response to UV-A [inference]

cellular response to UV-A

cellular response to light stimulus [inference]

cellular response to UV [inference]

cellular response to UV-A

cellular response to radiation [inference]

cellular response to light stimulus [inference]

cellular response to UV [inference]

cellular response to UV-A

cellular response to abiotic stimulus [inference]

cellular response to radiation [inference]

cellular response to light stimulus [inference]

cellular response to UV [inference]

cellular response to UV-A

response to chemical [inference]

response to xenobiotic stimulus [inference]

cellular response to xenobiotic stimulus

response to toxic substance [inference]

response to mycotoxin [inference]

cellular response to mycotoxin

cellular response to toxic substance [inference]

cellular response to mycotoxin

cellular response to chemical stimulus [inference]

cellular response to xenobiotic stimulus

cellular response to toxic substance [inference]

cellular response to mycotoxin

cellular response to oxygen-containing compound [inference]

cellular response to dithiothreitol

response to oxygen-containing compound [inference]

response to dithiothreitol [inference]

cellular response to dithiothreitol

cellular response to oxygen-containing compound [inference]

cellular response to dithiothreitol

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to xenobiotic stimulus

cellular response to toxic substance [inference]

cellular response to mycotoxin

cellular response to oxygen-containing compound [inference]

cellular response to dithiothreitol

cellular response to environmental stimulus [inference]

cellular response to abiotic stimulus [inference]

cellular response to radiation [inference]

cellular response to light stimulus [inference]

cellular response to UV [inference]

cellular response to UV-A

biological regulation [inference]

regulation of biological process [inference]

regulation of localization [inference]

regulation of transport [inference]

regulation of transmembrane transport [inference]

regulation of D-glucose transmembrane transport [inference]

negative regulation of D-glucose transmembrane transport [inference]

negative regulation of D-glucose import across plasma membrane

regulation of D-glucose import across plasma membrane [inference]

negative regulation of D-glucose import across plasma membrane

negative regulation of transmembrane transport [inference]

negative regulation of D-glucose transmembrane transport [inference]

negative regulation of D-glucose import across plasma membrane

negative regulation of transport [inference]

negative regulation of transmembrane transport [inference]

negative regulation of D-glucose transmembrane transport [inference]

negative regulation of D-glucose import across plasma membrane

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of mitophagy

positive regulation of autophagy of mitochondrion [inference]

positive regulation of mitophagy

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of transmembrane transport [inference]

negative regulation of D-glucose transmembrane transport [inference]

negative regulation of D-glucose import across plasma membrane

negative regulation of transport [inference]

negative regulation of transmembrane transport [inference]

negative regulation of D-glucose transmembrane transport [inference]

negative regulation of D-glucose import across plasma membrane

negative regulation of multicellular organismal process [inference]

negative regulation of muscle hypertrophy [inference]

negative regulation of cardiac muscle hypertrophy

regulation of response to stimulus [inference]

regulation of muscle adaptation [inference]

regulation of cardiac muscle hypertrophy [inference]

negative regulation of cardiac muscle hypertrophy

regulation of cellular process [inference]

regulation of metabolic process [inference]

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of mitophagy

positive regulation of autophagy of mitochondrion [inference]

positive regulation of mitophagy

regulation of catabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of mitophagy

positive regulation of autophagy of mitochondrion [inference]

positive regulation of mitophagy

regulation of autophagy [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of mitophagy

positive regulation of autophagy of mitochondrion [inference]

positive regulation of mitophagy

regulation of macroautophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of mitophagy

regulation of mitophagy [inference]

positive regulation of mitophagy

regulation of autophagy of mitochondrion [inference]

regulation of mitophagy [inference]

positive regulation of mitophagy

positive regulation of autophagy of mitochondrion [inference]

positive regulation of mitophagy

regulation of transmembrane transport [inference]

regulation of D-glucose transmembrane transport [inference]

negative regulation of D-glucose transmembrane transport [inference]

negative regulation of D-glucose import across plasma membrane

regulation of D-glucose import across plasma membrane [inference]

negative regulation of D-glucose import across plasma membrane

negative regulation of transmembrane transport [inference]

negative regulation of D-glucose transmembrane transport [inference]

negative regulation of D-glucose import across plasma membrane

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of mitophagy

positive regulation of autophagy of mitochondrion [inference]

positive regulation of mitophagy

negative regulation of cellular process [inference]

negative regulation of transmembrane transport [inference]

negative regulation of D-glucose transmembrane transport [inference]

negative regulation of D-glucose import across plasma membrane

regulation of multicellular organismal process [inference]

regulation of system process [inference]

regulation of muscle system process [inference]

regulation of muscle hypertrophy [inference]

regulation of cardiac muscle hypertrophy [inference]

negative regulation of cardiac muscle hypertrophy

negative regulation of muscle hypertrophy [inference]

negative regulation of cardiac muscle hypertrophy

regulation of muscle adaptation [inference]

regulation of cardiac muscle hypertrophy [inference]

negative regulation of cardiac muscle hypertrophy

negative regulation of multicellular organismal process [inference]

negative regulation of muscle hypertrophy [inference]

negative regulation of cardiac muscle hypertrophy

Displaying entries **1 - 5** of 8 in total

1

2

Next ›

Last »
GO Term	Evidence Code	PMID
endoplasmic reticulum	IDA
endoplasmic reticulum	IBA
endoplasmic reticulum	IEA
endoplasmic reticulum membrane	EXP
endoplasmic reticulum membrane	TAS

GO Hierarchy

cellular component

cellular anatomical structure [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying entries **1 - 5** of 6 in total

1

2

Next ›

Last »
GO Term	Evidence Code	PMID
N-acyltransferase activity	IEA
sphingosine N-acyltransferase activity	ISS
sphingosine N-acyltransferase activity	TAS
sphingosine N-acyltransferase activity	IDA
sphingosine N-acyltransferase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

acyltransferase activity [inference]

acyltransferase activity, transferring groups other than amino-acyl groups [inference]

N-acyltransferase activity

sphingosine N-acyltransferase activity

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K04710

Name

sphingoid base N-stearoyltransferase [EC:2.3.1.299]

References

12105227

Rhea

RHEA:61476

octadecanoyl-CoA + a sphingoid base

an N-octadecanoyl-sphingoid base + H⁺ + CoA

Enzyme

2.3.1.299

PMID

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0111451	progressive myoclonus epilepsy 8	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 20 in total

1

2

Next ›

Last »
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