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PTDSS1 phosphatidylserine synthase 1 [ Homo sapiens (human) ]

Gene ID: 9791, updated on 10-Oct-2020

Summary

Official Symbol
PTDSS1provided by HGNC
Official Full Name
phosphatidylserine synthase 1provided by HGNC
Primary source
HGNC:HGNC:9587
See related
Ensembl:ENSG00000156471 MIM:612792
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LMHD; PSS1; PSSA
Summary
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]
Expression
Ubiquitous expression in heart (RPKM 35.2), placenta (RPKM 27.0) and 25 other tissues See more
Orthologs

Genomic context

See PTDSS1 in Genome Data Viewer
Location:
8q22.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (96261902..96336995)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (97274167..97346774)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927039 Neighboring gene ubiquinol-cytochrome c reductase binding protein Neighboring gene mitochondrial transcription termination factor 3 Neighboring gene uncharacterized LOC105375652 Neighboring gene uncharacterized LOC102724804 Neighboring gene uncharacterized LOC105375653 Neighboring gene RNA, U6 small nuclear 1172, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Lenz-Majewski hyperostosis syndrome
MedGen: C0432269 OMIM: 151050 GeneReviews: Not available
Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of phosphatidylserine synthase 1 (PTDSS1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify phosphatidylserine synthase 1 (PTDSS1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify phosphatidylserine synthase 1 (PTDSS1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify phosphatidylserine synthase 1 (PTDSS1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify phosphatidylserine synthase 1 (PTDSS1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0024

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
phosphatidylserine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylserine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
phosphatidylserine biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
phosphatidylserine synthase 1
Names
PSS-1
ptdSer synthase 1
serine-exchange enzyme I
NP_001277154.1
NP_055569.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_034054.1 RefSeqGene

    Range
    5001..77667
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001290225.2NP_001277154.1  phosphatidylserine synthase 1 isoform 2

    See identical proteins and their annotated locations for NP_001277154.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two consecutive alternate exons compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AP003465, BC002376, BM459031, HY087183
    UniProtKB/Swiss-Prot
    P48651
    Conserved Domains (1) summary
    pfam03034
    Location:1225
    PSS; Phosphatidyl serine synthase
  2. NM_014754.3NP_055569.1  phosphatidylserine synthase 1 isoform 1

    See identical proteins and their annotated locations for NP_055569.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AP003465, BC004192, BM459031, HY087183
    Consensus CDS
    CCDS6271.1
    UniProtKB/Swiss-Prot
    P48651
    Related
    ENSP00000430548.1, ENST00000517309.6
    Conserved Domains (1) summary
    pfam03034
    Location:96371
    PSS; Phosphatidyl serine synthase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    96261902..96336995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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