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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 **11 - 20** of 68 in total

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DO ID	Disease Name	Source
DOID:0070133	autosomal recessive cutis laxa type IB	DisGeNET
DOID:0070134	autosomal recessive cutis laxa type IIA	DisGeNET
DOID:0070135	autosomal recessive cutis laxa type IA	DisGeNET
DOID:0070136	autosomal dominant cutis laxa 2	DisGeNET
DOID:0070137	autosomal recessive cutis laxa type IIB	DisGeNET
DOID:0070138	autosomal recessive cutis laxa type IIIB	DisGeNET
DOID:0070140	autosomal recessive cutis laxa type IIC	DisGeNET
DOID:0070141	autosomal recessive cutis laxa type II classic type	DisGeNET
DOID:0070142	autosomal dominant cutis laxa	DisGeNET
DOID:0080334	aortic valve disease 2	DisGeNET

The Human Phenotype Ontology

Displaying entries **11 - 20** of **102** in total

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HPO ID	HPO Term
HP:0000171	Microglossia
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000238	Hydrocephalus
HP:0000239	Large fontanelles
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000270	Delayed cranial suture closure
HP:0000303	Mandibular prognathia

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 **61 - 70** of 76 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Taeniopygia guttata	100231751		TAEGU17051
Ficedula albicollis	101811958		FICAL04419
Chlorocebus sabaeus	103237166		CHLSB17282
Rhinopithecus bieti	108531703		RHIBE18734
Rhinopithecus roxellana	104671566		RHIRO31068
Nomascus leucogenys	100605795		NOMLE11717
Sinocyclocheilus grahami	107591967		SINGR07791
Chelonoidis abingdonii	116815481		CHEAB12863
Pteropus vampyrus	105300600		PTEVA09592
Propithecus coquereli	105809788		PROCO01949

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Last updated: August 19, 2024