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    PLSCR1 phospholipid scramblase 1 [ Homo sapiens (human) ]

    Gene ID: 5359, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PLSCR1provided by HGNC
    Official Full Name
    phospholipid scramblase 1provided by HGNC
    Primary source
    HGNC:HGNC:9092
    See related
    Ensembl:ENSG00000188313 MIM:604170; AllianceGenome:HGNC:9092
    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
    MMTRA1B
    Summary
    This gene encodes a phospholipid scramblase family member. The encoded protein is involved in disruption of the asymmetrical distribution of phospholipids between the inner and outer leaflets of the plasma membrane, resulting in externalization of phosphatidylserine. This cell membrane disruption plays an important role in the blood coagulation cascade as well as macrophage clearing of apoptotic cells. The encoded protein has additionally been implicated in gene regulation and interferon-induced antiviral responses. [provided by RefSeq, May 2022]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Ubiquitous expression in appendix (RPKM 43.5), gall bladder (RPKM 33.7) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See PLSCR1 in Genome Data Viewer
    Location:
    3q24
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (146515180..146544607, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (149270345..149299772, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (146232967..146262394, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:146064530-146065284 Neighboring gene PLSCR4 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:146105286-146106485 Neighboring gene phospholipid scramblase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:146221410-146222226 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:146224538-146225203 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:146231939-146232440 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:146239924-146240441 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:146240442-146240960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20674 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:146299468-146300667 Neighboring gene RNA, U6 small nuclear 428, pseudogene Neighboring gene PLSCR5 antisense RNA 1 Neighboring gene phospholipid scramblase family member 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Inhibition of Hepatitis B virus replication by phospholipid scramblase 1 in vitro and in vivo. Yang J, et al. Antiviral Res, 2012 Apr. PMID 22342889
    2. Interactions stabilizing the C-terminal helix of human phospholipid scramblase 1 in lipid bilayers: A computational study. Venken T, et al. Biochim Biophys Acta Biomembr, 2017 Jul. PMID 28372945
    3. Phospholipid scramblase 1 as a critical node at the crossroad between autophagy and apoptosis in mantle cell lymphoma. Mastorci K, et al. Oncotarget, 2016 Jul 5. PMID 27248824, Free PMC Article
    4. Identification and characterization of the novel nuclease activity of human phospholipid scramblase 1. Sivagnanam U, et al. BMC Biochem, 2016 May 20. PMID 27206388, Free PMC Article
    5. Phospholipid Scramblase 1 Modulates FcR-Mediated Phagocytosis in Differentiated Macrophages. Herate C, et al. PLoS One, 2016. PMID 26745724, Free PMC Article

    See all (127) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phospholipid Scramblase 1 Localizes Proximal to Sphingomyelin Synthase Isoforms but Is Not Involved in Sphingomyelin Synthesis.
      Title: Phospholipid Scramblase 1 Localizes Proximal to Sphingomyelin Synthase Isoforms but Is Not Involved in Sphingomyelin Synthesis.
    2. Phospholipid scramblase 1 acts through the IL-6/JAK/STAT3 pathway to promote the malignant progression of glioma.
      Title: Phospholipid scramblase 1 acts through the IL-6/JAK/STAT3 pathway to promote the malignant progression of glioma.
    3. PLSCR1 is a cell-autonomous defence factor against SARS-CoV-2 infection.
      Title: PLSCR1 is a cell-autonomous defence factor against SARS-CoV-2 infection.
    4. Biophysical characterization of the DNA binding motif of human phospholipid scramblase 1.
      Title: Biophysical characterization of the DNA binding motif of human phospholipid scramblase 1.
    5. Interaction of human phospholipid scramblase 1 with cholesterol via CRAC motif is essential for functional regulation and subcellular localization.
      Title: Interaction of human phospholipid scramblase 1 with cholesterol via CRAC motif is essential for functional regulation and subcellular localization.
    6. The Interferon-Inducible Human PLSCR1 Protein Is a Restriction Factor of Human Cytomegalovirus.
      Title: The Interferon-Inducible Human PLSCR1 Protein Is a Restriction Factor of Human Cytomegalovirus.
    7. The ratio of ATP11C/PLSCR1 mRNA transcripts has clinical significance in sickle cell anemia.
      Title: The ratio of ATP11C/PLSCR1 mRNA transcripts has clinical significance in sickle cell anemia.
    8. Nuclear accumulation of KPNA2 impacts radioresistance through positive regulation of the PLSCR1-STAT1 loop in lung adenocarcinoma.
      Title: Nuclear accumulation of KPNA2 impacts radioresistance through positive regulation of the PLSCR1-STAT1 loop in lung adenocarcinoma.
    9. MicroRNA-628-5p inhibits invasion and migration of human pancreatic ductal adenocarcinoma via suppression of the AKT/NF-kappa B pathway.
      Title: MicroRNA-628-5p inhibits invasion and migration of human pancreatic ductal adenocarcinoma via suppression of the AKT/NF-kappa B pathway.
    10. Nuclear translocation of PLSCR1 activates STAT1 signaling in basal-like breast cancer.
      Title: Nuclear translocation of PLSCR1 activates STAT1 signaling in basal-like breast cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (68)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of phospholipid scramblase 1 (PLSCR1) by shRNA enhances the levels of gag mRNA in an HIV-1-infected MOLT-4 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Overexpression of PLSCR1 inhibits HIV-1 Tat-mediated transactivation of the HIV-1 LTR and reduces the nuclear translocation of Tat PubMed
    tat Human phospholipid scramblase 1 (PLSCR1) directly interacts with HIV-1 Tat both in vitro and in vivo through amino acids 160-250 of PLSCR1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CD4 receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables SH3 domain binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables epidermal growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables lead ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mercury ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phospholipid scramblase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipid scramblase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables virus receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acute-phase response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of viral genome replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phosphatidylserine biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phosphatidylserine exposure on apoptotic cell surface IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in plasma membrane phospholipid scrambling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in plasma membrane phospholipid scrambling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in platelet activation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of chromosome separation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of Fc receptor mediated stimulatory signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of mast cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to interferon-beta IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to lead ion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in symbiont entry into host cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in collagen-containing extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phospholipid scramblase 1
    Names
    PL scramblase 1
    ca(2+)-dependent phospholipid scramblase 1
    erythrocyte phospholipid scramblase
    mg(2+)-dependent nuclease

    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.

    mRNA and Protein(s)

    1. NM_001363872.1 → NP_001350801.1  phospholipid scramblase 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544
      Consensus CDS
      CCDS87153.1
      UniProtKB/TrEMBL
      C9J7K9
      Related
      ENSP00000417792.1, ENST00000487389.5
      Conserved Domains (2) summary
      pfam03803
      Location:79 → 300
      Scramblase; Scramblase
      cl27975
      Location:15 → 90
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

    2. NM_001363874.1 → NP_001350803.1  phospholipid scramblase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544
      Consensus CDS
      CCDS87152.1
      Conserved Domains (1) summary
      pfam03803
      Location:22 → 226
      Scramblase; Scramblase

    3. NM_001406033.1 → NP_001392962.1  phospholipid scramblase 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544

    4. NM_001406034.1 → NP_001392963.1  phospholipid scramblase 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544
      Consensus CDS
      CCDS3135.1
      UniProtKB/Swiss-Prot
      B2R8H8, B4DTE8, O15162

    5. NM_001406035.1 → NP_001392964.1  phospholipid scramblase 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544
      Consensus CDS
      CCDS3135.1
      UniProtKB/Swiss-Prot
      B2R8H8, B4DTE8, O15162

    6. NM_001406036.1 → NP_001392965.1  phospholipid scramblase 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544
      UniProtKB/TrEMBL
      C9J9P4
      Related
      ENSP00000418103.1, ENST00000462666.5

    7. NM_001406037.1 → NP_001392966.1  phospholipid scramblase 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544
      UniProtKB/TrEMBL
      C9J9P4

    8. NM_001406038.1 → NP_001392967.1  phospholipid scramblase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544
      Consensus CDS
      CCDS87152.1

    9. NM_001406039.1 → NP_001392968.1  phospholipid scramblase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544

    10. NM_001406040.1 → NP_001392969.1  phospholipid scramblase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544

    11. NM_001406041.1 → NP_001392970.1  phospholipid scramblase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544
      Related
      ENSP00000411675.2, ENST00000448787.6

    12. NM_001406042.1 → NP_001392971.1  phospholipid scramblase 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544

    13. NM_021105.3 → NP_066928.1  phospholipid scramblase 1 isoform 1

      See identical proteins and their annotated locations for NP_066928.1

      Status: REVIEWED

      Source sequence(s)
      AF098642, BC032718
      Consensus CDS
      CCDS3135.1
      UniProtKB/Swiss-Prot
      B2R8H8, B4DTE8, O15162
      Related
      ENSP00000345494.4, ENST00000342435.9
      Conserved Domains (2) summary
      pfam03803
      Location:86 → 307
      Scramblase; Scramblase
      cl23807
      Location:20 → 100
      WWbp; WW-domain ligand protein

    RNA

    1. NR_175994.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544

    2. NR_175995.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544

    3. NR_175996.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544
      Related
      ENST00000493432.5

    4. NR_175997.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544

    5. NR_175998.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544

    6. NR_175999.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544

    7. NR_176000.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544

    8. NR_176001.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544

    9. NR_176002.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069528, AC116544

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      146515180..146544607 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448329.1 → XP_047304285.1  phospholipid scramblase 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R8H8, B4DTE8, O15162

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      149270345..149299772 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346884.1 → XP_054202859.1  phospholipid scramblase 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R8H8, B4DTE8, O15162
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15162.1 GenPept UniProtKB/Swiss-Prot:O15162

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