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    PTDSS1 phosphatidylserine synthase 1 [ Homo sapiens (human) ]

    Gene ID: 9791, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:9587
    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
    NEW
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    Genomic context

    See PTDSS1 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (96261902..96336995)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (97387620..97462689)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (97274130..97349223)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27659 Neighboring gene UQCRB antisense RNA 1 Neighboring gene ubiquinol-cytochrome c reductase binding protein Neighboring gene mitochondrial transcription termination factor 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:97272591-97273284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27660 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:97273659-97273983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:97273978-97274670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27661 Neighboring gene uncharacterized LOC105375652 Neighboring gene Sharpr-MPRA regulatory region 10382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27664 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:97339509-97340044 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:97340045-97340580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:97351756-97352256 Neighboring gene uncharacterized LOC102724804 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:97388962-97389724 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
    not available

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    Clone Names

    • KIAA0024

    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)

    NEW Try the new Transcript table

    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_034054.2 RefSeqGene

      Range
      5002..80095
      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/TrEMBL
      Q9BSY0
      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
      B4DE85, E5RFC5, P48651, Q9BUQ5
      UniProtKB/TrEMBL
      A8KAH1
      Related
      ENSP00000430548.1, ENST00000517309.6
      Conserved Domains (1) summary
      pfam03034
      Location:96371
      PSS; Phosphatidyl serine synthase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      97387620..97462689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)