GlyCosmos Portal

Annotation

Keyword

3D-structure
Acyltransferase
Disease variant
Endoplasmic reticulum
Neurodegeneration
Neuropathy
Pyridoxal phosphate
Reference proteome
Sphingolipid metabolism
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
O15270	Long chain base biosynthesis protein 2 Long chain base biosynthesis protein 2a Serine-palmitoyl-CoA transferase 2

Annotation information from UniProt.

Gene Ontology (GO)

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

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GO Term	Evidence Code	PMID
sphingomyelin biosynthetic process	IEA
ceramide biosynthetic process	IBA IDA	25691431
adipose tissue development	ISS
positive regulation of lipophagy	IDA	25332431
sphingosine biosynthetic process	IBA IDA	19416851 33558761

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]

amide metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

amide biosynthetic process [inference]

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

sphingoid metabolic process [inference]

sphinganine metabolic process [inference]

sphinganine biosynthetic process

sphingosine metabolic process [inference]

sphingosine biosynthetic process

sphingoid biosynthetic process [inference]

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

organic hydroxy compound biosynthetic process [inference]

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

cellular biosynthetic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

sphingoid metabolic process [inference]

sphinganine metabolic process [inference]

sphinganine biosynthetic process

sphingosine metabolic process [inference]

sphingosine biosynthetic process

sphingoid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

sphingoid metabolic process [inference]

sphinganine metabolic process [inference]

sphinganine biosynthetic process

sphingosine metabolic process [inference]

sphingosine biosynthetic process

sphingoid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

polyol metabolic process [inference]

diol metabolic process [inference]

sphinganine metabolic process [inference]

sphinganine biosynthetic process

sphingosine metabolic process [inference]

sphingosine biosynthetic process

diol biosynthetic process [inference]

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

sphingoid metabolic process [inference]

sphinganine metabolic process [inference]

sphinganine biosynthetic process

sphingosine metabolic process [inference]

sphingosine biosynthetic process

sphingoid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

sphingoid metabolic process [inference]

sphinganine metabolic process [inference]

sphinganine biosynthetic process

sphingosine metabolic process [inference]

sphingosine biosynthetic process

sphingoid biosynthetic process [inference]

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

organonitrogen compound biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

organic hydroxy compound biosynthetic process [inference]

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

polyol metabolic process [inference]

diol metabolic process [inference]

sphinganine metabolic process [inference]

sphinganine biosynthetic process

sphingosine metabolic process [inference]

sphingosine biosynthetic process

diol biosynthetic process [inference]

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

organic hydroxy compound biosynthetic process [inference]

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

diol biosynthetic process [inference]

cellular process [inference]

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

cellular nitrogen compound metabolic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

cellular biosynthetic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amide biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process [inference]

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

sphingoid metabolic process [inference]

sphinganine metabolic process [inference]

sphinganine biosynthetic process

sphingosine metabolic process [inference]

sphingosine biosynthetic process

sphingoid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

sphingolipid biosynthetic process

sphingoid biosynthetic process [inference]

phospholipid metabolic process [inference]

sphingomyelin metabolic process [inference]

sphingomyelin biosynthetic process

phospholipid biosynthetic process [inference]

sphingomyelin biosynthetic process

developmental process [inference]

anatomical structure development [inference]

tissue development [inference]

connective tissue development [inference]

adipose tissue development

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 lipophagy

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 lipophagy

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 lipophagy

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of lipophagy

regulation of macroautophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of lipophagy

regulation of lipophagy [inference]

positive regulation of lipophagy

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of lipophagy

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 lipophagy

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of lipophagy

regulation of macroautophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of lipophagy

regulation of lipophagy [inference]

positive regulation of lipophagy

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of lipophagy

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 lipophagy

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 lipophagy

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 lipophagy

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 lipophagy

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of lipophagy

regulation of macroautophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of lipophagy

regulation of lipophagy [inference]

positive regulation of lipophagy

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy [inference]

positive regulation of lipophagy

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 lipophagy

Displaying **all 2** entries
GO Term	Evidence Code	PMID
serine C-palmitoyltransferase complex	IBA IDA IPI	19416851 33558761
endoplasmic reticulum membrane	NAS	33558761

GO Hierarchy

cellular component

protein-containing complex [inference]

endoplasmic reticulum protein-containing complex [inference]

endoplasmic reticulum palmitoyltransferase complex [inference]

serine C-palmitoyltransferase complex

catalytic complex [inference]

transferase complex [inference]

palmitoyltransferase complex [inference]

endoplasmic reticulum palmitoyltransferase complex [inference]

serine C-palmitoyltransferase complex

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying **all 2** entries
GO Term	Evidence Code	PMID
pyridoxal phosphate binding	IEA
serine C-palmitoyltransferase activity	IBA IDA	19416851 20920666 25332431 25691431 26573920

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

acyltransferase activity [inference]

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

C-acyltransferase activity [inference]

C-palmitoyltransferase activity [inference]

serine C-palmitoyltransferase activity

palmitoyltransferase activity [inference]

C-palmitoyltransferase activity [inference]

serine C-palmitoyltransferase activity

binding [inference]

small molecule binding [inference]

vitamin binding [inference]

vitamin B6 binding [inference]

pyridoxal phosphate binding

heterocyclic compound binding [inference]

vitamin B6 binding [inference]

pyridoxal phosphate binding

ion binding [inference]

anion binding [inference]

pyridoxal phosphate binding

organic cyclic compound binding [inference]

vitamin B6 binding [inference]

pyridoxal phosphate binding

Gene Ontology information from NCBI Gene and UniProt.

Rhea

RHEA:14761

H⁺ + L-serine + hexadecanoyl-CoA

CO₂ + CoA + 3-oxosphinganine

Enzyme

2.3.1.50

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 84 in total

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DO ID	Disease Name	Source
DOID:0050539	Charcot-Marie-Tooth disease type 2	DisGeNET
DOID:0050548	hereditary sensory neuropathy	DisGeNET DisGeNET
DOID:0060600	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum	DisGeNET
DOID:0060843	hereditary neuropathy with liability to pressure palsies	DisGeNET
DOID:0070152	hereditary sensory and autonomic neuropathy type 1A	DisGeNET
DOID:0070157	hereditary sensory and autonomic neuropathy type 1C	DisGeNET Alliance of Genome Resources
DOID:0070161	hereditary sensory and autonomic neuropathy type 2	DisGeNET
DOID:0070162	hereditary sensory and autonomic neuropathy type 1	DisGeNET Alliance of Genome Resources
DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy	DisGeNET
DOID:0110148	Charcot-Marie-Tooth disease type 1A	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 45 in total

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000365	Hearing impairment
HP:0000962	Hyperkeratosis
HP:0000970	Anhidrosis
HP:0001026	Penetrating foot ulcers
HP:0001058	Poor wound healing
HP:0001324	Muscle weakness
HP:0002020	Gastroesophageal reflux
HP:0002141	Gait imbalance
HP:0002166	Impaired vibration sensation in the lower limbs

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:36386	hereditary sensory and autonomic neuropathy type 1
OMIM:613640	neuropathy, hereditary sensory and autonomic, type 1C

PubChem Disease

MedGen Diseases

Neuropathy, hereditary sensory and autonomic, type 1C

OMIM Phenotypes

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C

KEGG Diseases

Hereditary sensory and autonomic neuropathy

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP001190
Gene Name: serine palmitoyltransferase, long chain base subunit 2

Ortholog

Displaying entries **1 - 10** of 80 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	179884	WB:WBGene00011932
Caenorhabditis elegans	266646	WB:WBGene00018398
Drosophila melanogaster	34910	FB:FBgn0002524
Callorhinchus milii	103186785		CALMI35434
Latimeria chalumnae	102354750		LATCH17623
Danio rerio	553646	ZFIN:ZDB-GENE-050522-23	DANRE12909
Danio rerio	557286	ZFIN:ZDB-GENE-080305-8	DANRE20255
Ictalurus punctatus	108269990		ICTPU34922
Electrophorus electricus	113571922		ELEEL04087
Xenopus laevis	444190	Xenbase:XB-GENE-946147

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements