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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
endoplasmic reticulum membrane	ISS TAS
membrane	HDA ISS	19946888

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
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 entries **1 - 10** of 68 in total

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DO ID	Disease Name	Source
DOID:0050429	Hailey-Hailey disease	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060320	inguinal hernia	DisGeNET
DOID:0060467	humeroradial synostosis	DisGeNET
DOID:0060762	restrictive dermopathy	DisGeNET
DOID:0060862	mal de Meleda	DisGeNET
DOID:0070129	autosomal recessive cutis laxa type IID	DisGeNET
DOID:0070130	autosomal dominant cutis laxa 1	DisGeNET
DOID:0070131	autosomal dominant cutis laxa 3	DisGeNET
DOID:0070132	autosomal recessive cutis laxa type IIIA	DisGeNET

The Human Phenotype Ontology

Displaying entries **61 - 70** of **102** in total

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HPO ID	HPO Term
HP:0002684	Thickened calvaria
HP:0002705	High, narrow palate
HP:0002750	Delayed skeletal maturation
HP:0002808	Kyphosis
HP:0002937	Hemivertebrae
HP:0002987	Elbow flexion contracture
HP:0003015	Flared metaphysis
HP:0003041	Humeroradial synostosis
HP:0003070	Elbow ankylosis
HP:0003103	Abnormal cortical bone morphology

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 **31 - 40** of 76 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Vulpes vulpes	112931317		VULVU02806
Ursus americanus	123797862		URSAM04144
Ailuropoda melanoleuca	100468000		AILME11006
Mustela putorius furo	101679721		MUSPF06489
Felis catus	101091087		FELCA37821
Panthera leo	122210485		PANLE18534
Balaenoptera musculus	118883673		BALMU01449
Loxodonta africana	100670511		LOXAF16431
Equus caballus	100059691		HORSE42402
Sus scrofa	100156809		PIGXX23115

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Last updated: August 19, 2024