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Aliases for PTDSS1 Gene

Aliases for PTDSS1 Gene

  • Phosphatidylserine Synthase 1 2 3 5
  • Serine-Exchange Enzyme I 3 4
  • PtdSer Synthase 1 3 4
  • PSS-1 3 4
  • PSSA 3 4
  • EC 4
  • KIAA0024 4
  • PSS1 3
  • LMHD 3

External Ids for PTDSS1 Gene

Previous GeneCards Identifiers for PTDSS1 Gene

  • GC08P096283
  • GC08P097348
  • GC08P096942
  • GC08P097230
  • GC08P097343
  • GC08P092479
  • GC08P097273

Summaries for PTDSS1 Gene

Entrez Gene Summary for PTDSS1 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]

GeneCards Summary for PTDSS1 Gene

PTDSS1 (Phosphatidylserine Synthase 1) is a Protein Coding gene. Diseases associated with PTDSS1 include Lenz-Majewski Hyperostotic Dwarfism and Dwarfism. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. GO annotations related to this gene include transferase activity. An important paralog of this gene is PTDSS2.

UniProtKB/Swiss-Prot for PTDSS1 Gene

  • Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. In membranes, PTDSS1 catalyzes mainly the conversion of phosphatidylcholine. Also converts, in vitro and to a lesser extent, phosphatidylethanolamine.

Additional gene information for PTDSS1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTDSS1 Gene

Genomics for PTDSS1 Gene

Regulatory Elements for PTDSS1 Gene

Enhancers for PTDSS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H096337 1.5 FANTOM5 Ensembl ENCODE 9.7 +77.3 77298 3.4 PKNOX1 ATF1 FEZF1 TCF12 ZNF766 FOS KLF7 ATF7 SMARCA4 ZSCAN16 PTDSS1 MTERF3 GC08P096341 ENSG00000199732
GH08H096325 1.2 Ensembl ENCODE 10.5 +65.7 65666 2.8 PKNOX1 ATF1 RB1 ARID4B SIN3A RAD21 TCF12 GATA2 SCRT2 ZNF143 MTERF3 PTDSS1 GC08P096341 ENSG00000199732
GH08H096233 1 ENCODE 12.2 -26.6 -26620 3.1 HDGF FOXA2 ATF1 ARNT ARID4B SIN3A DMAP1 BRCA1 ZBTB7B YY1 MTERF3 PTDSS1 LOC101927039 GC08P096183
GH08H096312 0.8 Ensembl ENCODE 11.9 +51.4 51391 1.1 CTCF PKNOX1 USF2 ETV6 RUNX3 RAD21 NR2F2 MTERF3 PTDSS1 ENSG00000199732 GC08P096341
GH08H096333 0.8 ENCODE 10.3 +71.6 71633 0.2 GTF2F1 CTCF ESRRA SIN3A RAD21 RFX5 TEAD3 POLR2A ZBTB48 FOXK2 MTERF3 PTDSS1 GC08P096341 ENSG00000199732
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTDSS1 on UCSC Golden Path with GeneCards custom track

Promoters for PTDSS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for PTDSS1 Gene

Genomic Locations for PTDSS1 Gene
75,281 bases
Plus strand

Genomic View for PTDSS1 Gene

Genes around PTDSS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTDSS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTDSS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTDSS1 Gene

Proteins for PTDSS1 Gene

  • Protein details for PTDSS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phosphatidylserine synthase 1
    Protein Accession:
    Secondary Accessions:
    • B4DE85
    • E5RFC5
    • Q9BUQ5

    Protein attributes for PTDSS1 Gene

    473 amino acids
    Molecular mass:
    55528 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PTDSS1 Gene


neXtProt entry for PTDSS1 Gene

Post-translational modifications for PTDSS1 Gene

  • Ubiquitination at isoforms=18, isoforms=2, 3251, isoforms=2, 3281, and isoforms=2, 3348
  • Modification sites at PhosphoSitePlus

Other Protein References for PTDSS1 Gene

No data available for DME Specific Peptides for PTDSS1 Gene

Domains & Families for PTDSS1 Gene

Gene Families for PTDSS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for PTDSS1 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the phosphatidyl serine synthase family.
  • Belongs to the phosphatidyl serine synthase family.
genes like me logo Genes that share domains with PTDSS1: view

Function for PTDSS1 Gene

Molecular function for PTDSS1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=67 uM for serine (in the presence of 2 mM PC) {ECO:0000269 PubMed:19014349}; KM=24 uM for serine (in the presence of 1 mM PE) {ECO:0000269 PubMed:19014349}; pH dependence: Optimum pH for both PC and PE is between 7.0 and 7.5. {ECO:0000269 PubMed:19014349};
UniProtKB/Swiss-Prot CatalyticActivity:
L-1-phosphatidylethanolamine + L-serine = L-1-phosphatidylserine + ethanolamine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Requires calcium ions. Activated by exogenous phosphatidylethanolamine.
UniProtKB/Swiss-Prot Function:
Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. In membranes, PTDSS1 catalyzes mainly the conversion of phosphatidylcholine. Also converts, in vitro and to a lesser extent, phosphatidylethanolamine.

Enzyme Numbers (IUBMB) for PTDSS1 Gene

Phenotypes From GWAS Catalog for PTDSS1 Gene

Gene Ontology (GO) - Molecular Function for PTDSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity TAS --
genes like me logo Genes that share ontologies with PTDSS1: view
genes like me logo Genes that share phenotypes with PTDSS1: view

Human Phenotype Ontology for PTDSS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTDSS1 Gene

MGI Knock Outs for PTDSS1:

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PTDSS1 Gene

Localization for PTDSS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTDSS1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Highly enriched in the mitochondria-associated membrane (MAM). {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTDSS1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTDSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PTDSS1: view

Pathways & Interactions for PTDSS1 Gene

genes like me logo Genes that share pathways with PTDSS1: view

UniProtKB/Swiss-Prot P48651-PTSS1_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylserine biosynthesis.

Interacting Proteins for PTDSS1 Gene

Gene Ontology (GO) - Biological Process for PTDSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006659 phosphatidylserine biosynthetic process TAS --
GO:0008654 phospholipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with PTDSS1: view

No data available for SIGNOR curated interactions for PTDSS1 Gene

Drugs & Compounds for PTDSS1 Gene

(5) Drugs for PTDSS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphatidyl serine Approved Nutra Target 0
L-Serine Approved Nutra Full agonist, Agonist 0
Ethanolamine Experimental Pharma 0

(506) Additional Compounds for PTDSS1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-Trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
Phosphatidylcholines Group B
  • 1-(1-Enyl-palmitoyl)-2-a-linolenoyl-sn-glycero-3-phosphocholine
  • 1-(1-Enyl-palmitoyl)-2-alpha-linolenoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/18:3)
  • GPCho(16:0/18:3n3)
  • GPCho(16:0/18:3w3)
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(16:0/16:0)
genes like me logo Genes that share compounds with PTDSS1: view

Transcripts for PTDSS1 Gene

Unigene Clusters for PTDSS1 Gene

Phosphatidylserine synthase 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTDSS1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP2: - - -
SP3: - - - -

Relevant External Links for PTDSS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PTDSS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTDSS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTDSS1 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.5).

Protein differential expression in normal tissues from HIPED for PTDSS1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.1) and Monocytes (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PTDSS1 Gene

Protein tissue co-expression partners for PTDSS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PTDSS1 Gene:


SOURCE GeneReport for Unigene cluster for PTDSS1 Gene:


Evidence on tissue expression from TISSUES for PTDSS1 Gene

  • Nervous system(4.7)
  • Muscle(4.4)
  • Bone marrow(4.3)
  • Lung(2.9)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTDSS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lacrimal apparatus
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tongue
  • tooth
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • intestine
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PTDSS1: view

No data available for mRNA Expression by UniProt/SwissProt for PTDSS1 Gene

Orthologs for PTDSS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTDSS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PTDSS1 33 34
  • 99.65 (n)
(Bos Taurus)
Mammalia PTDSS1 33 34
  • 92.18 (n)
(Mus musculus)
Mammalia Ptdss1 33 16 34
  • 90.7 (n)
(Canis familiaris)
Mammalia PTDSS1 33 34
  • 90.13 (n)
(Rattus norvegicus)
Mammalia Ptdss1 33
  • 90.13 (n)
(Ornithorhynchus anatinus)
Mammalia PTDSS1 34
  • 89 (a)
(Monodelphis domestica)
Mammalia PTDSS1 34
  • 86 (a)
(Gallus gallus)
Aves PTDSS1 33 34
  • 83.37 (n)
(Anolis carolinensis)
Reptilia PTDSS1 34
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ptdss1 33
  • 79.5 (n)
Str.15777 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25644 33
(Danio rerio)
Actinopterygii ptdss1a 34
  • 78 (a)
ptdss1b 33 34
  • 73.04 (n)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3240 33
fruit fly
(Drosophila melanogaster)
Insecta CG4825 35 33 34
  • 59.05 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012146 33
  • 56.97 (n)
(Caenorhabditis elegans)
Secernentea pssy-1 33
  • 55.86 (n)
ZC506.3 35
  • 48 (a)
T27E9.5 35
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
Species where no ortholog for PTDSS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTDSS1 Gene

Gene Tree for PTDSS1 (if available)
Gene Tree for PTDSS1 (if available)

Paralogs for PTDSS1 Gene

Paralogs for PTDSS1 Gene

(1) SIMAP similar genes for PTDSS1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PTDSS1: view

Variants for PTDSS1 Gene

Sequence variations from dbSNP and Humsavar for PTDSS1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs587777088 Pathogenic, Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050] 96,309,607(+) AACAC(A/G)ATGCT reference, missense
rs587777089 Pathogenic, Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050] 96,304,092(+) TCACT(C/T)CTGCT reference, missense
rs587777090 Pathogenic, Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050] 96,304,081(+) TGTTC(C/T)GCAGT reference, missense
rs762544416 Uncertain significance 96,306,460(+) GAATA(A/C)CTTCT reference, missense
rs1000031698 -- 96,285,895(+) TTGGT(-/A)AAAAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PTDSS1 Gene

Variant ID Type Subtype PubMed ID
nsv6320 CNV insertion 18451855
nsv6319 CNV insertion 18451855
nsv1020494 CNV gain 25217958

Variation tolerance for PTDSS1 Gene

Residual Variation Intolerance Score: 43.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.63; 45.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTDSS1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTDSS1 Gene

Disorders for PTDSS1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PTDSS1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lenz-majewski hyperostotic dwarfism
  • lms
short-rib thoracic dysplasia 6 with or without polydactyly
  • majewski syndrome
  • bone hypertrophy
sengers syndrome
  • mitochondrial dna depletion syndrome 10
- elite association - COSMIC cancer census association via MalaCards


  • Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050]: A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction. {ECO:0000269 PubMed:24241535}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PTDSS1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PTDSS1: view

No data available for Genatlas for PTDSS1 Gene

Publications for PTDSS1 Gene

  1. Purification and characterization of human phosphatidylserine synthases 1 and 2. (PMID: 19014349) Tomohiro S … Kuge O (The Biochemical journal 2009) 3 4 22 60
  2. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. (PMID: 24241535) Sousa SB … Moore GE (Nature genetics 2014) 3 4 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Biosynthetic regulation and intracellular transport of phosphatidylserine in mammalian cells. (PMID: 12761285) Kuge O … Nishijima M (Journal of biochemistry 2003) 22 25 60

Products for PTDSS1 Gene

Sources for PTDSS1 Gene

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