PLSCR1 phospholipid scramblase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLSCR1provided by HGNC
Official Full Name: phospholipid scramblase 1provided by HGNC
Primary source: HGNC:HGNC:9092
See related: Ensembl:ENSG00000188313 MIM:604170
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MMTRA1B
Expression: Ubiquitous expression in appendix (RPKM 43.5), gall bladder (RPKM 33.7) and 25 other tissues See more
Orthologs: all

Genomic context

Location:: 3q24

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	3	NC_000003.12 (146515178..146544805, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (146232967..146262628, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of PLSCR1 decreased the antiviral activity of IFN against HBV.
Title: [Effect of PLSCR1 on the Antiviral Activity of IFN against HBV in HepG2 Cells].
Data suggest that PLSCR1 is involved in viral entry; here, herpes simplex viruses activate PLSCR1 and up-regulate flipping of phosphatidylserines and AKT to outside of plasma membrane shortly following HSV-1 or HSV-2 exposure. (PLSCR1 = phospholipid scramblase 1; AKT = proto-oncogene c-Akt)
Title: Herpes simplex viruses activate phospholipid scramblase to redistribute phosphatidylserines and Akt to the outer leaflet of the plasma membrane and promote viral entry.
wogonoside promotes the expression of PLSCR1 and enhances its nuclear translocation and binding to the 1, 4, 5-trisphosphate receptor 1 (IP3R1) promoter in AML patient-derived primary cells. Wogonoside activates IP3R1, in turn, promotes release of Ca(2+) from endoplasmic reticulum, and eventually leads to cell differentiation.
Title: PLSCR1/IP3R1/Ca<sup>2+</sup> axis contributes to differentiation of primary AML cells induced by wogonoside.
Data indicate heterogeneous expression of phospholipid scramblase 1 (PLSCR1) and suggest its possible implication in the response to anticancer therapies, especially to drugs promoting protective autophagy.
Title: Phospholipid scramblase 1 as a critical node at the crossroad between autophagy and apoptosis in mantle cell lymphoma.
investigate how the polar aspartate residue is accommodated in lipid bilayers containing POPC with and without cholesterol, using all-atom molecular dynamics simulations
Title: Interactions stabilizing the C-terminal helix of human phospholipid scramblase 1 in lipid bilayers: A computational study.
Human phospholipid scramblase 1 has five histidine residues and point mutations of histidine residues to alanine in hPLSCR1 resulted in 60 % loss in nuclease activity.
Title: Identification and characterization of the novel nuclease activity of human phospholipid scramblase 1.
The mechanisms of pH-induced functional activation of hPLSCR1 are described.
Title: Biochemical evidence for Ca2+-independent functional activation of hPLSCR1 at low pH.
directed mutagenesis revealed the importance of c-Myc binding sites from -751 to -756 and -548 to -553 on the promoter of hPLSCR1in transcriptionally regulating the expression of hPLSCR1.
Title: Two c-Myc binding sites are crucial in upregulating the expression of human phospholipid scramblase 1 gene.
PLSCR1 positively regulates hepatic carcinoma cell proliferation and migration through interacting with midkine
Title: Phospholipid Scramblase 1 Interacts with Midkine and Regulates Hepatic Cancer Cell Proliferation and Migration.
Suggest role for PLSCR1 in negatively regulating trophoblast fusion rather than directly promoting fusion.
Title: Phospholipid scramblase 1 (PLSCR1) in villous trophoblast of the human placenta.

Submit: New GeneRIF Correction See all GeneRIFs (54)

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 BioSystems

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EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC229255P5 (e-PCR)
- UniSTS:272172

SHGC-77431 (e-PCR)
- UniSTS:48456

SHGC-77437 (e-PCR)
- UniSTS:51388

SGC32718 (e-PCR)
- UniSTS:45767

STS-N33501 (e-PCR)
- UniSTS:20445

Homology

Homologs of the PLSCR1 gene: The PLSCR1 gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 92 organisms have orthologs with human gene PLSCR1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
CD4 receptor binding	IPI Inferred from Physical Interaction more info	PubMed
DNA binding	IEA Inferred from Electronic Annotation more info
DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
SH3 domain binding	IDA Inferred from Direct Assay more info	PubMed
calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
calcium ion binding	NAS Non-traceable Author Statement more info	PubMed
enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
epidermal growth factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
phospholipid scramblase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
phospholipid scramblase activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acute-phase response	ISS Inferred from Sequence or Structural Similarity more info
apoptotic process	IDA Inferred from Direct Assay more info	PubMed
defense response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of viral genome replication	IMP Inferred from Mutant Phenotype more info	PubMed
phosphatidylserine biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
phospholipid scrambling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
phospholipid scrambling	IDA Inferred from Direct Assay more info	PubMed
platelet activation	NAS Non-traceable Author Statement more info	PubMed
positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
regulation of Fc receptor mediated stimulatory signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
regulation of mast cell activation	ISS Inferred from Sequence or Structural Similarity more info
response to interferon-beta	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
extracellular exosome	HDA more info	PubMed
integral component of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
membrane	HDA more info	PubMed
membrane raft	IDA Inferred from Direct Assay more info	PubMed
nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	IDA Inferred from Direct Assay more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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

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)

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

Status: VALIDATED

Source sequence(s)

AC069528, AC116544

Consensus CDS

CCDS87153.1

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

Status: VALIDATED

Source sequence(s)

AC069528, AC116544

Consensus CDS

CCDS87152.1

Conserved Domains (1) summary

pfam03803
Location:22 → 226

Scramblase; Scramblase
NM_021105.3 → NP_066928.1 phospholipid scramblase 1 isoform 1

See identical proteins and their annotated locations for NP_066928.1

Status: VALIDATED

Source sequence(s)

AF098642, BC032718

Consensus CDS

CCDS3135.1

UniProtKB/Swiss-Prot

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