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MIRAGE

phosphatidylserine synthase 1

Summary

Gene Symbol

PTDSS1

Aliases

KIAA0024
PSS1
PSSA

Organism

Homo sapiens (human)

External Links

NCBI Gene

9791

HGNC

9587

KEGG Gene ID

hsa:9791

PubChem

9791

Alliance of Genome Resources

HGNC:9587

Annotation

Keyword

Acetylation
Alternative splicing
Disease variant
Dwarfism
Endoplasmic reticulum
Intellectual disability
Phospholipid biosynthesis
Phosphoprotein
Reference proteome
Transferase
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
P48651	Serine-exchange enzyme I

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
phosphatidylserine biosynthetic process	TAS
phosphatidylserine biosynthetic process	IDA	19014349
phosphatidylserine biosynthetic process	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

cellular modified amino acid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

cellular modified amino acid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organonitrogen compound biosynthetic process [inference]

cellular modified amino acid biosynthetic process [inference]

phosphatidylserine biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organonitrogen compound biosynthetic process [inference]

cellular modified amino acid biosynthetic process [inference]

phosphatidylserine biosynthetic process

cellular metabolic process [inference]

cellular modified amino acid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

cellular modified amino acid biosynthetic process [inference]

phosphatidylserine biosynthetic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organonitrogen compound metabolic process [inference]

cellular modified amino acid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

cellular modified amino acid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organonitrogen compound biosynthetic process [inference]

cellular modified amino acid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organonitrogen compound biosynthetic process [inference]

cellular modified amino acid biosynthetic process [inference]

phosphatidylserine biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular modified amino acid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

cellular modified amino acid biosynthetic process [inference]

phosphatidylserine biosynthetic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylserine metabolic process [inference]

phosphatidylserine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylserine biosynthetic process

Displaying **all 4** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane	ISS
endoplasmic reticulum membrane	TAS
membrane	ISS
membrane	HDA	19946888

GO Hierarchy

cellular component

cellular anatomical entity [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying **all 5** entries
GO Term	Evidence Code	PMID
transferase activity	TAS
L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IDA	19014349
L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IMP	24241535
L-serine-phosphatidylcholine phosphatidyltransferase activity	IDA	19014349
L-serine-phosphatidylcholine phosphatidyltransferase activity	IMP	24241535

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity

transferase activity, transferring phosphorus-containing groups [inference]

phosphotransferase activity, for other substituted phosphate groups [inference]

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Phosphatidylserine Synthase

Functional Category

E: Amino acid transport and metabolism
K: Transcription
T: Signal transduction mechanisms

Displaying **all 5** entries
Gene Ontology
L-serine-phosphatidylethanolamine phosphatidyltransferase activity
lipid metabolic process
phosphatidylserine biosynthetic process
phospholipid biosynthetic process
transferase activity

Displaying 1 entry
InterPro
Phosphatidyl serine synthase

KEGG BRITE Database

Orthology

K08729

Name

phosphatidylserine synthase 1 [EC:2.7.8.-]

References

9516423

Rhea

L-serine + a 1,2-diacyl-sn-glycero-3-phosphoethanolamine

a 1,2-diacyl-sn-glycero-3-phospho-L-serine + ethanolamine

Enzyme

2.7.8.29

PMID

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0111507	Lenz-Majewski hyperostotic dwarfism	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **51 - 60** of **102** in total

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HPO ID	HPO Term
HP:0001511	Intrauterine growth retardation
HP:0001545	Anteriorly placed anus
HP:0001582	Redundant skin
HP:0001804	Hypoplastic fingernail
HP:0001812	Hyperconvex fingernails
HP:0002007	Frontal bossing
HP:0002119	Ventriculomegaly
HP:0002120	Cerebral cortical atrophy
HP:0002342	Intellectual disability, moderate
HP:0002650	Scoliosis

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:2658	Lenz-Majewski hyperostotic dwarfism
OMIM:151050	Lenz-Majewski hyperostotic dwarfism

PubChem Disease

MedGen Diseases

Lenz-Majewski hyperostosis syndrome

OMIM Phenotypes

LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD

KEGG Diseases

Lenz-Majewski syndrome

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002660
Gene Name: phosphatidylserine synthase 1

Ortholog

Displaying entries **11 - 20** of 71 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Sus scrofa	100156809		PIGXX23115
Ciona intestinalis	100179127		CIOIN15552
Taeniopygia guttata	100231751		TAEGU17051
Callithrix jacchus	100413392		CALJA14154
Pongo abelii	100441574		PONAB34750
Ailuropoda melanoleuca	100468000		AILME11006
Anolis carolinensis	100564978		ANOCA05410
Nomascus leucogenys	100605795		NOMLE11717
Loxodonta africana	100670511		LOXAF16431
Otolemur garnettii	100941192		OTOGA18140

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Last updated: April 7, 2025