Seroatlas · Human Serome Atlas

PTDSS1

Phosphatidylserine synthase 1

Also known as: KIAA0024, PSS1, PSSA, PTSS1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P48651
Gene
PTDSS1
Ensembl
ENSG00000156471
Chromosome
8
Canonical length
473 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location
Nucleoplasm,Endoplasmic reticulum

OverviewNCBI Gene

The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

Canonical amino-acid sequenceUniProt

473 residues, UniProt reviewed canonical sequence.

>P48651|PTDSS1
     1  MASCVGSRTL SKDDVNYKMH FRMINEQQVE DITIDFFYRP HTITLLSFTI VSLMYFAFTR
    61  DDSVPEDNIW RGILSVIFFF LIISVLAFPN GPFTRPHPAL WRMVFGLSVL YFLFLVFLLF
   121  LNFEQVKSLM YWLDPNLRYA TREADVMEYA VNCHVITWER IISHFDIFAF GHFWGWAMKA
   181  LLIRSYGLCW TISITWELTE LFFMHLLPNF AECWWDQVIL DILLCNGGGI WLGMVVCRFL
   241  EMRTYHWASF KDIHTTTGKI KRAVLQFTPA SWTYVRWFDP KSSFQRVAGV YLFMIIWQLT
   301  ELNTFFLKHI FVFQASHPLS WGRILFIGGI TAPTVRQYYA YLTDTQCKRV GTQCWVFGVI
   361  GFLEAIVCIK FGQDLFSKTQ ILYVVLWLLC VAFTTFLCLY GMIWYAEHYG HREKTYSECE
   421  DGTYSPEISW HHRKGTKGSE DSPPKHAGNN ESHSSRRRNR HSKSKVTNGV GKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PTDSS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
9
Mean surface accessibility (rSASA)
0.36
Highest tissue expression
7.5 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 7.5 nTPM
  • heart muscle: 6.7 nTPM
  • lymph node: 5.2 nTPM
  • tonsil: 4.9 nTPM
  • bone marrow: 4.6 nTPM
  • liver: 4.3 nTPM

Single-cell type

  • neutrophil progenitors: 180 nCPM
  • syncytiotrophoblasts: 125 nCPM
  • cardiomyocytes: 112 nCPM
  • monocyte progenitors: 110 nCPM
  • cytotrophoblasts: 108 nCPM
  • late spermatids: 92 nCPM

Immune cell

  • basophil: 10 nTPM
  • total PBMC: 6.8 nTPM
  • myeloid DC: 3.9 nTPM
  • NK-cell: 3.3 nTPM
  • memory CD4 T-cell: 2.8 nTPM
  • classical monocyte: 2.5 nTPM

Brain region

  • cerebral cortex: 8.9 nTPM
  • basal ganglia: 7.5 nTPM
  • hypothalamus: 7.1 nTPM
  • white matter: 6.1 nTPM
  • hippocampal formation: 6 nTPM
  • cerebellum: 5.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PTDSS1.

Disease | AllUniProt

Conditions PTDSS1 is implicated in, by any mechanism.

  • Lenz-Majewski hyperostotic dwarfism (LMHD) MIM:151050

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 294 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Lenz-Majewski hyperostosis syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.45
gnomAD pLI
0.15
gnomAD missense Z
2.38
DepMap mean gene effect
-0.23
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 17% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PTDSS1 as an antibody target. Whether an autoantibody or antibody against PTDSS1 could matter depends on whether native PTDSS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PTDSS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PTDSS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PTDSS1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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