Human Gene PTDSS1 (ENST00000517309.6) Description and Page Index
  Description: Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 1, mRNA. (from RefSeq NM_014754)
RefSeq Summary (NM_014754): 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].
Gencode Transcript: ENST00000517309.6
Gencode Gene: ENSG00000156471.13
Transcript (Including UTRs)
   Position: hg38 chr8:96,261,902-96,336,995 Size: 75,094 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr8:96,262,041-96,333,566 Size: 71,526 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:96,261,902-96,336,995)mRNA (may differ from genome)Protein (473 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Phosphatidylserine synthase 1; Short=PSS-1; Short=PtdSer synthase 1; EC=; AltName: Full=Serine-exchange enzyme I;
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.
CATALYTIC ACTIVITY: L-1-phosphatidylethanolamine + L-serine = L-1- phosphatidylserine + ethanolamine.
ENZYME REGULATION: Requires calcium ions. Activated by exogenous phosphatidylethanolamine.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=67 uM for serine (in the presence of 2 mM PC); KM=24 uM for serine (in the presence of 1 mM PE); pH dependence: Optimum pH for both PC and PE is between 7.0 and 7.5;
PATHWAY: Phospholipid metabolism; phosphatidylserine biosynthesis.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Note=Highly enriched in the mitochondria-associated membrane (MAM) (By similarity).
SIMILARITY: Belongs to the phosphatidyl serine synthase family.

-  MalaCards Disease Associations
  MalaCards Gene Search: PTDSS1
Diseases sorted by gene-association score: lenz-majewski hyperostotic dwarfism* (1692), dwarfism (22), short-rib thoracic dysplasia 6 with or without polydactyly (10), hyperostosis (7), sengers syndrome (7), asphyxiating thoracic dystrophy (1), intellectual disability (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.98 RPKM in Heart - Left Ventricle
Total median expression: 540.30 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.60139-0.601 Picture PostScript Text
3' UTR -1078.303429-0.314 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004277 - PSS

Pfam Domains:
PF03034 - Phosphatidyl serine synthase

ModBase Predicted Comparative 3D Structure on P48651
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence Protein SequenceProtein Sequence 
AlignmentAlignment AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016740 transferase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006659 phosphatidylserine biosynthetic process
GO:0008654 phospholipid biosynthetic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane

-  Descriptions from all associated GenBank mRNAs
  AK293036 - Homo sapiens cDNA FLJ75839 complete cds, highly similar to Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.
BC002376 - Homo sapiens phosphatidylserine synthase 1, mRNA (cDNA clone MGC:8590 IMAGE:2961075), complete cds.
BC004192 - Homo sapiens phosphatidylserine synthase 1, mRNA (cDNA clone MGC:3305 IMAGE:3509418), complete cds.
BC004390 - Homo sapiens phosphatidylserine synthase 1, mRNA (cDNA clone MGC:10968 IMAGE:3634879), complete cds.
D14694 - Homo sapiens KIAA0024 mRNA, complete cds.
LF384932 - JP 2014500723-A/192435: Polycomb-Associated Non-Coding RNAs.
MA620509 - JP 2018138019-A/192435: Polycomb-Associated Non-Coding RNAs.
AB383711 - Synthetic construct DNA, clone: pF1KSDA0024, Homo sapiens PTDSS1 gene for phosphatidylserine synthase 1, complete cds, without stop codon, in Flexi system.
DQ891825 - Synthetic construct clone IMAGE:100004455; FLH180317.01X; RZPDo839A11134D phosphatidylserine synthase 1 (PTDSS1) gene, encodes complete protein.
DQ895012 - Synthetic construct Homo sapiens clone IMAGE:100009472; FLH180313.01L; RZPDo839A11133D phosphatidylserine synthase 1 (PTDSS1) gene, encodes complete protein.
CU678608 - Synthetic construct Homo sapiens gateway clone IMAGE:100017338 5' read PTDSS1 mRNA.
KJ892850 - Synthetic construct Homo sapiens clone ccsbBroadEn_02244 PTDSS1 gene, encodes complete protein.
KJ902021 - Synthetic construct Homo sapiens clone ccsbBroadEn_11415 PTDSS1 gene, encodes complete protein.
BC004502 - Homo sapiens phosphatidylserine synthase 1, mRNA (cDNA clone IMAGE:3836412), partial cds.
AK293513 - Homo sapiens cDNA FLJ57481 complete cds, highly similar to Phosphatidylserine synthase 1 (EC 2.7.8.-).
LF331967 - JP 2014500723-A/139470: Polycomb-Associated Non-Coding RNAs.
MA567544 - JP 2018138019-A/139470: Polycomb-Associated Non-Coding RNAs.
JD266351 - Sequence 247375 from Patent EP1572962.
JD445344 - Sequence 426368 from Patent EP1572962.
LF331968 - JP 2014500723-A/139471: Polycomb-Associated Non-Coding RNAs.
MA567545 - JP 2018138019-A/139471: Polycomb-Associated Non-Coding RNAs.
JD178527 - Sequence 159551 from Patent EP1572962.
JD187810 - Sequence 168834 from Patent EP1572962.
JD464582 - Sequence 445606 from Patent EP1572962.
JD162861 - Sequence 143885 from Patent EP1572962.
JD553769 - Sequence 534793 from Patent EP1572962.
JD220971 - Sequence 201995 from Patent EP1572962.
JD402634 - Sequence 383658 from Patent EP1572962.
JD244706 - Sequence 225730 from Patent EP1572962.
JD083445 - Sequence 64469 from Patent EP1572962.
JD142099 - Sequence 123123 from Patent EP1572962.
JD168663 - Sequence 149687 from Patent EP1572962.
JD050776 - Sequence 31800 from Patent EP1572962.
JD521480 - Sequence 502504 from Patent EP1572962.
LF331969 - JP 2014500723-A/139472: Polycomb-Associated Non-Coding RNAs.
MA567546 - JP 2018138019-A/139472: Polycomb-Associated Non-Coding RNAs.
LF331970 - JP 2014500723-A/139473: Polycomb-Associated Non-Coding RNAs.
MA567547 - JP 2018138019-A/139473: Polycomb-Associated Non-Coding RNAs.
LF331971 - JP 2014500723-A/139474: Polycomb-Associated Non-Coding RNAs.
MA567548 - JP 2018138019-A/139474: Polycomb-Associated Non-Coding RNAs.
AK126443 - Homo sapiens cDNA FLJ44479 fis, clone UTERU2031851.
LF331972 - JP 2014500723-A/139475: Polycomb-Associated Non-Coding RNAs.
MA567549 - JP 2018138019-A/139475: Polycomb-Associated Non-Coding RNAs.
JD199702 - Sequence 180726 from Patent EP1572962.
JD556342 - Sequence 537366 from Patent EP1572962.
JD522283 - Sequence 503307 from Patent EP1572962.
JD329115 - Sequence 310139 from Patent EP1572962.
JD319326 - Sequence 300350 from Patent EP1572962.
JD319327 - Sequence 300351 from Patent EP1572962.
JD070834 - Sequence 51858 from Patent EP1572962.
JD201306 - Sequence 182330 from Patent EP1572962.
JD430213 - Sequence 411237 from Patent EP1572962.
JD557395 - Sequence 538419 from Patent EP1572962.
JD529246 - Sequence 510270 from Patent EP1572962.
JD169384 - Sequence 150408 from Patent EP1572962.
JD041402 - Sequence 22426 from Patent EP1572962.
JD321142 - Sequence 302166 from Patent EP1572962.
JD321143 - Sequence 302167 from Patent EP1572962.
JD388375 - Sequence 369399 from Patent EP1572962.
JD118458 - Sequence 99482 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00564 - Glycerophospholipid metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-7501 - phosphatidylserine biosynthesis I

Reactome (by CSHL, EBI, and GO)

Protein P48651 (Reactome details) participates in the following event(s):

R-HSA-1483186 PC is converted to PS by PTDSS1
R-HSA-1483101 Synthesis of PS
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA0024, NM_014754, P48651, PSSA, PTSS1_HUMAN, uc003yht.1, uc003yht.2, uc003yht.3
UCSC ID: uc003yht.3
RefSeq Accession: NM_014754
Protein: P48651 (aka PTSS1_HUMAN or PSS1_HUMAN)
CCDS: CCDS6271.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.