GlyCosmos Portal

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

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

1

2

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GO Term	Evidence Code	PMID
sphingolipid biosynthetic process	IDA TAS	12105227
cellular response to UV-A	IDA	19800881
cellular response to dithiothreitol	IDA	19800881
positive regulation of mitophagy	IDA	22922758
ceramide biosynthetic process	IBA IDA ISS	12105227 12869556 15823095 17548428 18541923 22922758 24782409

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

ceramide biosynthetic process

amide metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

amide biosynthetic process [inference]

ceramide biosynthetic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

ceramide biosynthetic process

cellular biosynthetic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

ceramide biosynthetic process

cellular biosynthetic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to dithiothreitol

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

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

response to organic substance [inference]

cellular response to organic substance [inference]

cellular response to dithiothreitol

response to dithiothreitol [inference]

cellular response to dithiothreitol

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to dithiothreitol

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 organic substance [inference]

cellular response to dithiothreitol

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 metabolic process [inference]

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of cellular 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

positive regulation of cellular metabolic process [inference]

positive regulation of cellular 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 cellular 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 cellular catabolic process [inference]

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

positive regulation of cellular 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 cellular metabolic process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular 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 cellular catabolic process [inference]

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

positive regulation of cellular 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

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of cellular 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

positive regulation of cellular metabolic process [inference]

positive regulation of cellular 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

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular 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

positive regulation of cellular component organization [inference]

positive regulation of organelle organization [inference]

positive regulation of mitochondrion organization [inference]

positive regulation of autophagy of mitochondrion [inference]

positive regulation of mitophagy

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular 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 cellular catabolic process [inference]

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

positive regulation of cellular 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

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular 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

positive regulation of cellular component organization [inference]

positive regulation of organelle organization [inference]

positive regulation of mitochondrion organization [inference]

positive regulation of autophagy of mitochondrion [inference]

positive regulation of mitophagy

regulation of cellular component organization [inference]

regulation of organelle organization [inference]

positive regulation of organelle organization [inference]

positive regulation of mitochondrion organization [inference]

positive regulation of autophagy of mitochondrion [inference]

positive regulation of mitophagy

regulation of mitochondrion organization [inference]

positive regulation of mitochondrion organization [inference]

positive regulation of autophagy of mitochondrion [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

positive regulation of cellular component organization [inference]

positive regulation of organelle organization [inference]

positive regulation of mitochondrion organization [inference]

positive regulation of autophagy of mitochondrion [inference]

positive regulation of mitophagy

Displaying **all 4** entries
GO Term	Evidence Code	PMID
membrane		12869556
endoplasmic reticulum membrane
intracellular membrane-bounded organelle	ISS
endoplasmic reticulum	IDA	17699106 19800881 24782409

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle

endoplasmic reticulum

Displaying 1 entry
GO Term	Evidence Code	PMID
sphingosine N-acyltransferase activity	IBA IDA ISS TAS	24782409

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 [inference]

sphingosine N-acyltransferase activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

ceramide synthase

Functional Category

J: Translation, ribosomal structure and biogenesis
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
ceramide biosynthetic process
sphingosine N-acyltransferase activity

Displaying **all 2** entries
InterPro
Sphingosine N-acyltransferase Lag1/Lac1-like
TRAM/LAG1/CLN8 homology domain

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

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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

PubChem Disease

MedGen Diseases

Progressive myoclonic epilepsy type 8

OMIM Phenotypes

EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8

KEGG Diseases

Progressive myoclonic epilepsy

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **31 - 40** of 69 in total

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Species	Gene ID	Orthologous MAtrix
Nannospalax galili	103726856	NANGA14206
Callithrix jacchus	103789832	CALJA22695
Esox lucius	105011446	ESOLU22007
Mandrillus leucophaeus	105547166	MANLE13442
Salmo salar	106573829	SALSA46624
Macaca mulatta	106994665	MACMU20351
Cyprinodon variegatus	107101216	CYPVA02524
Macaca fascicularis	107128159	MACFA17676
Sinocyclocheilus grahami	107566364	SINGR82089
Kryptolebias marmoratus	108230660	KRYMA04040

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements