Phosphatidylserine synthase 1

Summary
UniProt ID
P48651
Gene Symbol
  • PTDSS1
  • KIAA0024
  • PSSA
Organism
Homo sapiens (human)
External Links
GlyGen
P48651
PubChem
P48651
SwissLipids
The Human Metabolome Database
HMDBP02190
The O-GlcNAc Database
P48651
RaftProt
P48651
Annotation
Keyword
  • Acetylation
  • Alternative splicing
  • Disease variant
  • Dwarfism
  • Endoplasmic reticulum
  • Intellectual disability
  • Phospholipid biosynthesis
  • Phosphoprotein
  • Reference proteome
  • Transferase
  • Transmembrane helix
Gene Ontology (GO)
Sequence
MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTRDDSVPEDNIWRGILSVIFFFLIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLFLNFEQVKSLMYWLDPNLRYATREADVMEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK
Glycosylation Sites
Displaying 1 entry
Position Description PubMed ID GlyTouCan ID Source
Feature
  • ProtVista GlyGen : Glycosylation Site from GlyGen
  • ProtVista UniProt : Glycosylation Site from UniProt
Pathway
Displaying 1 entry
Pathway Name Organism
Synthesis of PS Homo sapiens
Disease
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

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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