Ptdss1 phosphatidylserine synthase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ptdss1provided by MGI
Official Full Name: phosphatidylserine synthase 1provided by MGI
Primary source: MGI:MGI:1276575
See related: Ensembl:ENSMUSG00000021518 AllianceGenome:MGI:1276575
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PSS-1; mKIAA0024
Summary: Enables L-serine-phosphatidylcholine phosphatidyltransferase activity and L-serine-phosphatidylethanolamine phosphatidyltransferase activity. Predicted to be involved in phosphatidylserine biosynthetic process. Located in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in Lenz-Majewski hyperostotic dwarfism. Orthologous to human PTDSS1 (phosphatidylserine synthase 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in large intestine adult (RPKM 34.4), testis adult (RPKM 17.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 B3; 13 34.54 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (67080894..67146465)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (66932830..66998401)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phosphatidylserine Synthase PTDSS1 Shapes the Tumor Lipidome to Maintain Tumor-Promoting Inflammation.
Title: Phosphatidylserine Synthase PTDSS1 Shapes the Tumor Lipidome to Maintain Tumor-Promoting Inflammation.
Site-directed mutagenesis of binding sites within the Pss1 promoter demonstrated that Sp and N-Myc synergistically activate Pss1 expression in astrocytes
Title: N-Myc and SP regulate phosphatidylserine synthase-1 expression in brain and glial cells.
elimination of either PSS1 or PSS2, but not both, is compatible with mouse viability
Title: Defining the importance of phosphatidylserine synthase-1 (PSS1): unexpected viability of PSS1-deficient mice.
SBEE, synthesizing PS in the binding area for PKC, participates inn signal transduction. The capability of SBEE to utilize not only serine but also ethanolamine, as free exchanging base, suggests a mechanism for modulating in loco PS concentration.
Title: Synthesis of phosphatidylserine by base exchange in Triton-insoluble floating fractions from rat cerebellum.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU044268 (e-PCR)
- UniSTS:160318

AW539008 (e-PCR)
- UniSTS:180555

MDB0859 (e-PCR)
- UniSTS:125039

d7rat45 (e-PCR)
- UniSTS:120523

RH130952 (e-PCR)
- UniSTS:214236

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables L-serine-phosphatidylcholine phosphatidyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-serine-phosphatidylcholine phosphatidyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables L-serine-phosphatidylcholine phosphatidyltransferase activity	ISO Inferred from Sequence Orthology more info
enables L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables L-serine-phosphatidylethanolamine phosphatidyltransferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in phosphatidylserine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylserine biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: phosphatidylserine synthase 1

Names: PtdSer Synthase-1; ptdSer synthase 1; serine-exchange enzyme I

NP_032985.2

EC 2.7.8.29

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.