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 21 - 30 of 68 in total
DO ID Disease Name Source
DOID:0080348 Alzheimer's disease 1
DOID:0110035 Alzheimer's disease 2
DOID:0110037 Alzheimer's disease 5
DOID:0110038 Alzheimer's disease 6
DOID:0110039 Alzheimer's disease 7
DOID:0110041 Alzheimer's disease 8
DOID:0110043 Alzheimer's disease 10
DOID:0110044 Alzheimer's disease 11
DOID:0110045 Alzheimer's disease 12
DOID:0110046 Alzheimer's disease 13
The Human Phenotype Ontology
Displaying entries 91 - 100 of 102 in total
HPO ID HPO Term
HP:0008065 Aplasia/Hypoplasia of the skin
HP:0008070 Sparse hair
HP:0009773 Symphalangism affecting the phalanges of the hand
HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand
HP:0010554 Cutaneous finger syndactyly
HP:0010627 Anterior pituitary hypoplasia
HP:0010628 Facial palsy
HP:0011001 Increased bone mineral density
HP:0011002 Osteopetrosis
HP:0011220 Prominent forehead
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