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Aliases for PTDSS1 Gene

Aliases for PTDSS1 Gene

  • Phosphatidylserine Synthase 1 2 3
  • Serine-Exchange Enzyme I 3 4
  • PtdSer Synthase 1 3 4
  • PSS-1 3 4
  • PSSA 3 4
  • EC 2.7.8.29 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 hypotrichosis 2. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. 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

No data available for 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PTDSS1 Gene

Chromosome:
8
Start:
96,261,715 bp from pter
End:
96,336,995 bp from pter
Size:
75,281 bases
Orientation:
Plus strand

Genomic View for PTDSS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for PTDSS1 Gene

Proteins for PTDSS1 Gene

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

    Protein Symbol:
    P48651-PTSS1_HUMAN
    Recommended name:
    Phosphatidylserine synthase 1
    Protein Accession:
    P48651
    Secondary Accessions:
    • B4DE85
    • E5RFC5
    • Q9BUQ5

    Protein attributes for PTDSS1 Gene

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

    Alternative splice isoforms for PTDSS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTDSS1 Gene

Proteomics data for PTDSS1 Gene at MOPED

Post-translational modifications for PTDSS1 Gene

  • Ubiquitination at Lys 18, Lys 251, Lys 281, and Lys 348
  • Modification sites at PhosphoSitePlus

Other Protein References for PTDSS1 Gene

Antibody Products

No data available for DME Specific Peptides for PTDSS1 Gene

Domains & Families for PTDSS1 Gene

Protein Domains for PTDSS1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P48651

UniProtKB/Swiss-Prot:

PTSS1_HUMAN :
  • Belongs to the phosphatidyl serine synthase family.
Family:
  • Belongs to the phosphatidyl serine synthase family.
genes like me logo Genes that share domains with PTDSS1: view

No data available for Gene Families for PTDSS1 Gene

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

Gene Ontology (GO) - Molecular Function for PTDSS1 Gene

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

Animal Models for PTDSS1 Gene

MGI Knock Outs for PTDSS1:

Animal Model Products

CRISPR 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

COMPARTMENTS
Jensen Localization Image for PTDSS1 Gene COMPARTMENTS Subcellular localization image for PTDSS1 gene
Compartment Confidence
endoplasmic reticulum 4
nucleus 2
mitochondrion 1

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

Pathways by source for PTDSS1 Gene

UniProtKB/Swiss-Prot P48651-PTSS1_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylserine biosynthesis

Interacting Proteins for PTDSS1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000430548%0d%0a9606.ENSP00000215885%0d%0a9606.ENSP00000263088%0d%0a9606.ENSP00000264005%0d%0a9606.ENSP00000266095%0d%0a9606.ENSP00000283415%0d%0a
Selected Interacting proteins: P48651-PTSS1_HUMAN ENSP00000430548 for PTDSS1 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for PTDSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006659 phosphatidylserine biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0046474 glycerophospholipid biosynthetic process TAS --
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

(4) Drugs for PTDSS1 Gene - From: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphatidylserine Approved Nutra Target 0
L-Serine Approved Nutra Full agonist, Agonist Weak endogenous glycine receptor agonist 0
Ethanolamine Experimental Pharma 0
Phosphatidylethanolamine Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PC(18:1(9Z)e/2:0)
  • (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
68737-67-7, 63-89-8
Phosphatidylcholines Group B
  • 1-(1-Enyl-palmitoyl)-2-stearidonoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/18:4)
  • GPCho(16:0/18:4n3)
  • GPCho(16:0/18:4w3)
  • GPCho(34:4)
88542-95-4
Phosphatidylinositol-3,4,5-trisphosphate
  • 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
PI(16:0/16:0)
  • 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:

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
SP1:
SP2: - - -
SP3: - - - -

Relevant External Links for PTDSS1 Gene

GeneLoc Exon Structure for
PTDSS1
ECgene alternative splicing isoforms for
PTDSS1

Expression for PTDSS1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for PTDSS1 Gene



SOURCE GeneReport for Unigene cluster for PTDSS1 Gene Hs.292579

genes like me logo Genes that share expression patterns with PTDSS1: view

Protein tissue co-expression partners for PTDSS1 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia PTDSS1 35
  • 92.18 (n)
  • 97.67 (a)
PTDSS1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTDSS1 35
  • 90.13 (n)
  • 97.04 (a)
PTDSS1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptdss1 35
  • 90.7 (n)
  • 97.25 (a)
Ptdss1 16
Ptdss1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PTDSS1 35
  • 99.65 (n)
  • 100 (a)
PTDSS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptdss1 35
  • 90.13 (n)
  • 97.04 (a)
oppossum
(Monodelphis domestica)
Mammalia PTDSS1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTDSS1 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTDSS1 35
  • 83.37 (n)
  • 91.75 (a)
PTDSS1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTDSS1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptdss1 35
  • 79.5 (n)
  • 87.1 (a)
Str.15777 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25644 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
ptdss1b 35
  • 73.04 (n)
  • 80.65 (a)
ptdss1a 36
  • 78 (a)
OneToMany
ptdss1b 36
  • 78 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3240 35
fruit fly
(Drosophila melanogaster)
Insecta CG4825 37
  • 56 (a)
CG4825 35
  • 59.05 (n)
  • 53.61 (a)
CG4825 36
  • 44 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012146 35
  • 56.97 (n)
  • 53.69 (a)
worm
(Caenorhabditis elegans)
Secernentea T27E9.5 37
  • 45 (a)
ZC506.3 37
  • 48 (a)
pssy-1 35
  • 55.86 (n)
  • 49.25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToOne
Species with no ortholog for PTDSS1:
  • 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

ENSEMBL:
Gene Tree for PTDSS1 (if available)
TreeFam:
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 MAF
rs883655 -- 96,304,953(+) ACAGA(C/T)GATCT intron-variant
rs883656 -- 96,305,044(+) TAATC(A/T)CTGTG intron-variant
rs938828 -- 96,304,593(+) TTTGG(G/T)TAATC intron-variant
rs961075 -- 96,309,670(-) ATAAA(A/T)TTAGG intron-variant
rs961076 -- 96,309,731(-) ACCTG(C/T)CTTCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv6319 CNV Insertion 18451855
nsv6320 CNV Insertion 18451855

Variation tolerance for PTDSS1 Gene

Residual Variation Intolerance Score: 43.49% 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

HapMap Linkage Disequilibrium report
PTDSS1
Human Gene Mutation Database (HGMD)
PTDSS1

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lenz-majewski hyperostotic dwarfism
  • lenz majewski hyperostotic dwarfism
hypotrichosis 2
  • hypotrichosis simplex of scalp 1
peeling skin syndrome 1
  • deciduous skin
psoriasis 2
  • psoriasis
pityriasis rubra pilaris
  • devergie's disease
- elite association

UniProtKB/Swiss-Prot

PTSS1_HUMAN
  • 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)
PTDSS1
Human Genome Epidemiology (HuGE) Navigator
PTDSS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTDSS1
genes like me logo Genes that share disorders with PTDSS1: view

No data available for Genatlas for PTDSS1 Gene

Publications for PTDSS1 Gene

  1. Biosynthetic regulation and intracellular transport of phosphatidylserine in mammalian cells. (PMID: 12761285) Kuge O. … Nishijima M. (J. Biochem. 2003) 23 25 26 67
  2. PssA is required for alpha-amylase secretion in Antarctic Pseudoalteromonas haloplanktis. (PMID: 19778966) Parrilli E. … Tutino M.L. (Microbiology (Reading, Engl.) 2010) 23 67
  3. Purification and characterization of human phosphatidylserine synthases 1 and 2. (PMID: 19014349) Tomohiro S. … Kuge O. (Biochem. J. 2009) 23 67
  4. Mitochondrial and secretory human cytomegalovirus UL37 proteins traffic into mitochondrion-associated membranes of human cells. (PMID: 18199645) Bozidis P. … Colberg-Poley A.M. (J. Virol. 2008) 23 67
  5. Phospholipid homeostasis in phosphatidylserine synthase-2-deficient mice. (PMID: 16627002) Steenbergen R. … Vance J.E. (Biochim. Biophys. Acta 2006) 25 26

Products for PTDSS1 Gene

Sources for PTDSS1 Gene

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