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 41 - 50 of 68 in total
DO ID Disease Name Source
DOID:10908 hydrocephalus
DOID:10944 tongue disease
DOID:11193 syndactyly
DOID:11383 cryptorchidism
DOID:11870 Pick's disease
DOID:12506 Bell's palsy
DOID:12849 autistic disorder
DOID:13533 osteopetrosis
DOID:13934 facial paralysis
DOID:14159 obstructive hydrocephalus
The Human Phenotype Ontology
Displaying entries 51 - 60 of 102 in total
HPO ID HPO Term
HP:0001511 Intrauterine growth retardation
HP:0001545 Anteriorly placed anus
HP:0001582 Redundant skin
HP:0001804 Hypoplastic fingernail
HP:0001812 Hyperconvex fingernails
HP:0002007 Frontal bossing
HP:0002119 Ventriculomegaly
HP:0002120 Cerebral cortical atrophy
HP:0002342 Intellectual disability, moderate
HP:0002650 Scoliosis
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

About Release Notes Help Feedback

Click here to visit the beta site.


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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024