Human Gene PTDSS2 (uc001lpj.3) Description and Page Index
  Description: Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA.
RefSeq Summary (NM_030783): The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016].
Transcript (Including UTRs)
   Position: hg19 chr11:450,280-491,387 Size: 41,108 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr11:450,456-490,582 Size: 40,127 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:450,280-491,387)mRNA (may differ from genome)Protein (487 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKB

-  Comments and Description Text from UniProtKB
  ID: PTSS2_HUMAN
DESCRIPTION: RecName: Full=Phosphatidylserine synthase 2; Short=PSS-2; Short=PtdSer synthase 2; EC=2.7.8.29; AltName: Full=Serine-exchange enzyme II;
FUNCTION: Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. PTDSS2 is specific for phosphatatidylethanolamine and does not act on phosphatidylcholine.
CATALYTIC ACTIVITY: L-1-phosphatidylethanolamine + L-serine = L-1- phosphatidylserine + ethanolamine.
ENZYME REGULATION: Inhibited in both the MAM and the ER per se by ethanolamine. Requires calcium ions.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=120 uM for serine (in the presence of 1 mM PE); Vmax=0.57 mmol/h/mg enzyme; pH dependence: Optimum pH is around 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.

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 49.60 RPKM in Testis
Total median expression: 545.86 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -87.80176-0.499 Picture PostScript Text
3' UTR -379.81805-0.472 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 Q9BVG9
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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
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003882 CDP-diacylglycerol-serine O-phosphatidyltransferase activity
GO:0016740 transferase activity

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

Cellular Component:
GO:0005622 intracellular
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC001210 - Homo sapiens phosphatidylserine synthase 2, mRNA (cDNA clone MGC:3220 IMAGE:3503123), complete cds.
LF384313 - JP 2014500723-A/191816: Polycomb-Associated Non-Coding RNAs.
AK311723 - Homo sapiens cDNA, FLJ18765.
AK307374 - Homo sapiens cDNA, FLJ97322.
AL834357 - Homo sapiens mRNA; cDNA DKFZp547O117 (from clone DKFZp547O117).
JD264390 - Sequence 245414 from Patent EP1572962.
DQ891743 - Synthetic construct clone IMAGE:100004373; FLH180361.01X; RZPDo839B05134D phosphatidylserine synthase 2 (PTDSS2) gene, encodes complete protein.
DQ894922 - Synthetic construct Homo sapiens clone IMAGE:100009382; FLH180357.01L; RZPDo839B05133D phosphatidylserine synthase 2 (PTDSS2) gene, encodes complete protein.
CU674608 - Synthetic construct Homo sapiens gateway clone IMAGE:100023420 5' read PTDSS2 mRNA.
BC015702 - Homo sapiens phosphatidylserine synthase 2, mRNA (cDNA clone IMAGE:3907899), with apparent retained intron.
JD250793 - Sequence 231817 from Patent EP1572962.
JD459323 - Sequence 440347 from Patent EP1572962.
JD422685 - Sequence 403709 from Patent EP1572962.
JD536826 - Sequence 517850 from Patent EP1572962.
JD541532 - Sequence 522556 from Patent EP1572962.
JD398507 - Sequence 379531 from Patent EP1572962.
JD401187 - Sequence 382211 from Patent EP1572962.
JD159557 - Sequence 140581 from Patent EP1572962.
JD471921 - Sequence 452945 from Patent EP1572962.
JD129347 - Sequence 110371 from Patent EP1572962.
JD543809 - Sequence 524833 from Patent EP1572962.
JD127295 - Sequence 108319 from Patent EP1572962.
JD497407 - Sequence 478431 from Patent EP1572962.
JD380778 - Sequence 361802 from Patent EP1572962.
JD519907 - Sequence 500931 from Patent EP1572962.
JD136381 - Sequence 117405 from Patent EP1572962.
JD513455 - Sequence 494479 from Patent EP1572962.
JD239912 - Sequence 220936 from Patent EP1572962.
JD403877 - Sequence 384901 from Patent EP1572962.
LF370550 - JP 2014500723-A/178053: Polycomb-Associated Non-Coding RNAs.
JD371615 - Sequence 352639 from Patent EP1572962.
JD460975 - Sequence 441999 from Patent EP1572962.
LF370551 - JP 2014500723-A/178054: Polycomb-Associated Non-Coding RNAs.
JD421270 - Sequence 402294 from Patent EP1572962.
JD306457 - Sequence 287481 from Patent EP1572962.
JD221622 - Sequence 202646 from Patent EP1572962.
MA619890 - JP 2018138019-A/191816: Polycomb-Associated Non-Coding RNAs.
MA606127 - JP 2018138019-A/178053: Polycomb-Associated Non-Coding RNAs.
MA606128 - JP 2018138019-A/178054: Polycomb-Associated Non-Coding RNAs.
MP015203 - Sequence 406 from Patent WO2019016252.

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

BioCyc Knowledge Library
PHOSLIPSYN-PWY - phospholipid biosynthesis I
PWY-5669 - phosphatidylethanolamine biosynthesis I

Reactome (by CSHL, EBI, and GO)

Protein Q9BVG9 (Reactome details) participates in the following event(s):

R-HSA-1483089 PE is converted to PS by PTDSS2
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: NM_030783, NP_110410, PSS2, PTSS2_HUMAN, Q9BVG9
UCSC ID: uc001lpj.3
RefSeq Accession: NM_030783
Protein: Q9BVG9 (aka PTSS2_HUMAN or PSS2_HUMAN)
CCDS: CCDS7696.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_030783.1
exon count: 12CDS single in 3' UTR: no RNA size: 2473
ORF size: 1464CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3000.00frame shift in genome: no % Coverage: 98.87
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 745# strange splices: 0
Click here for a detailed description of the fields of the table above.

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