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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 1 entry
GO Term	Evidence Code	PMID
phosphatidylserine biosynthetic process	IDA IEA TAS	19014349

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 2** entries
GO Term	Evidence Code	PMID
membrane	HDA ISS	19946888
endoplasmic reticulum membrane	ISS TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying **all 3** entries
GO Term	Evidence Code	PMID
L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IDA IMP	19014349 24241535
transferase activity	TAS
L-serine-phosphatidylcholine phosphatidyltransferase activity	IDA IMP	19014349 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.

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 **81 - 90** of **102** in total

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HPO ID	HPO Term
HP:0005477	Progressive sclerosis of skull base
HP:0005916	Abnormal metacarpal morphology
HP:0006101	Finger syndactyly
HP:0006152	Proximal symphalangism of hands
HP:0006297	Enamel hypoplasia
HP:0006380	Knee flexion contracture
HP:0006660	Aplastic clavicle
HP:0006989	Dysplastic corpus callosum
HP:0007495	Prematurely aged appearance
HP:0007678	Lacrimal duct stenosis

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

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Last updated: February 17, 2025