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
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
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
phosphatidylserine biosynthetic process
GO Hierarchy
KEGG BRITE Database
Orthology
K08729
Name
phosphatidylserine synthase 1 [EC:2.7.8.-]
References
Disease
Disease Ontology
Displaying entries 31 - 40 of 68 in total
DO ID Disease Name Source
DOID:0110047 Alzheimer's disease 14
DOID:0110048 Alzheimer's disease 15
DOID:0110938 autosomal dominant osteopetrosis 2
DOID:0110946 autosomal recessive osteopetrosis 7
DOID:0111343 lateral meningocele syndrome
DOID:0111507 Lenz-Majewski hyperostotic dwarfism
DOID:10003 sensorineural hearing loss
DOID:1059 intellectual disability
DOID:10652 Alzheimer's disease
DOID:10892 hypospadias
The Human Phenotype Ontology
Displaying entries 101 - 102 of 102 in total
HPO ID HPO Term
HP:0012471 Thick vermilion border
HP:0100541 Femoral hernia
Displaying all 2 entries
Disease ID Disease Name
ORPHA:2658
  • Lenz-Majewski hyperostotic dwarfism
OMIM:151050
  • Lenz-Majewski hyperostotic dwarfism
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002660
Gene Name
phosphatidylserine synthase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024