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 51 - 60 of 68 in total
DO ID Disease Name Source
DOID:1443 cerebral degeneration
DOID:14524 senile degeneration of brain
DOID:14525 Reye syndrome
DOID:1573 communicating hydrocephalus
DOID:1712 aortic valve stenosis
DOID:1756 facial nerve disease
DOID:1924 hypogonadism
DOID:2732 Rothmund-Thomson syndrome
DOID:3144 cutis laxa
DOID:3891 placental insufficiency
The Human Phenotype Ontology
Displaying entries 11 - 20 of 102 in total
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
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