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PLSCR1 phospholipid scramblase 1 [ Homo sapiens (human) ]

Gene ID: 5359, updated on 27-Nov-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: 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

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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 (126) 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
    Related
    ENSP00000418103.1, ENST00000462666.5

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

    Status: REVIEWED

    Source sequence(s)
    AC069528, AC116544

  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

Gene LinkOut

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