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 1 - 10 of 68 in total
DO ID Disease Name Source
DOID:0050429 Hailey-Hailey disease
DOID:0060249 scoliosis
DOID:0060320 inguinal hernia
DOID:0060467 humeroradial synostosis
DOID:0060762 restrictive dermopathy
DOID:0060862 mal de Meleda
DOID:0070129 autosomal recessive cutis laxa type IID
DOID:0070130 autosomal dominant cutis laxa 1
DOID:0070131 autosomal dominant cutis laxa 3
DOID:0070132 autosomal recessive cutis laxa type IIIA
The Human Phenotype Ontology
Displaying entries 1 - 10 of 102 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000023 Inguinal hernia
HP:0000028 Cryptorchidism
HP:0000036 Abnormal penis morphology
HP:0000039 Epispadias
HP:0000041 Chordee
HP:0000047 Hypospadias
HP:0000135 Hypogonadism
HP:0000154 Wide mouth
HP:0000164 Abnormality of the dentition
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