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Aliases for PLSCR1 Gene

Aliases for PLSCR1 Gene

  • Phospholipid Scramblase 1 2 3 5
  • Ca(2+)-Dependent Phospholipid Scramblase 1 3 4
  • Erythrocyte Phospholipid Scramblase 3 4
  • PL Scramblase 1 3 4
  • MMTRA1B 3 4

External Ids for PLSCR1 Gene

Previous GeneCards Identifiers for PLSCR1 Gene

  • GC03M143025
  • GC03M147108
  • GC03M147514
  • GC03M147553
  • GC03M147715
  • GC03M146232
  • GC03M143612

Summaries for PLSCR1 Gene

GeneCards Summary for PLSCR1 Gene

PLSCR1 (Phospholipid Scramblase 1) is a Protein Coding gene. Diseases associated with PLSCR1 include Scott Syndrome. Among its related pathways are EGF/EGFR Signaling Pathway. GO annotations related to this gene include calcium ion binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is PLSCR2.

UniProtKB/Swiss-Prot for PLSCR1 Gene

  • May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system.

  • May play a role in the antiviral response of interferon (IFN) by amplifying and enhancing the IFN response through increased expression of select subset of potent antiviral genes. May contribute to cytokine-regulated cell proliferation and differentiation.

Gene Wiki entry for PLSCR1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLSCR1 Gene

Genomics for PLSCR1 Gene

Regulatory Elements for PLSCR1 Gene

Enhancers for PLSCR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G146541 1.7 FANTOM5 ENCODE dbSUPER 37.7 +1.4 1433 4.3 HDGF FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 PLSCR1 PLSCR2 ENSG00000279320
GH03G146502 1.6 Ensembl ENCODE dbSUPER 20.6 +39.3 39296 5.8 FOXA2 MLX ZFP64 ARID4B SIN3A YY1 ZNF766 CBX5 FOS SP5 PLSCR1 RNU6-428P ENSG00000279320 PLSCR2
GH03G146550 1.3 FANTOM5 Ensembl ENCODE 17.9 -6.4 -6429 1.1 PKNOX1 HLF JUN BHLHE40 JUNB FOSL1 JUND RAD51 ATF3 SIRT6 PLSCR1 PLSCR4 PLSCR2 GC03P146572
GH03G146510 1 ENCODE dbSUPER 17.3 +33.3 33276 3.1 TAF1 ZNF140 MAX CEBPG RAD21 ZNF101 ZNF697 YY1 HNF4G ZNF680 PLSCR1 RNU6-428P ENSG00000279320
GH03G146580 1.2 Ensembl ENCODE 11.2 -37.0 -36955 2.6 ELF3 CBX3 FOXA2 ATF1 MLX THRB RARA GATA4 CREM MIXL1 PLSCR5 PLSCR1 ENSG00000243415 PLOD2 LNCSRLR GC03M146579 PLSCR5-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLSCR1 on UCSC Golden Path with GeneCards custom track

Promoters for PLSCR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000159733 964 3001 HDGF FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766

Genomic Location for PLSCR1 Gene

Chromosome:
3
Start:
146,515,178 bp from pter
End:
146,544,864 bp from pter
Size:
29,687 bases
Orientation:
Minus strand

Genomic View for PLSCR1 Gene

Genes around PLSCR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLSCR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLSCR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLSCR1 Gene

Proteins for PLSCR1 Gene

  • Protein details for PLSCR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15162-PLS1_HUMAN
    Recommended name:
    Phospholipid scramblase 1
    Protein Accession:
    O15162
    Secondary Accessions:
    • B2R8H8
    • B4DTE8

    Protein attributes for PLSCR1 Gene

    Size:
    318 amino acids
    Molecular mass:
    35049 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts with ABL.

    Three dimensional structures from OCA and Proteopedia for PLSCR1 Gene

    Alternative splice isoforms for PLSCR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLSCR1 Gene

Post-translational modifications for PLSCR1 Gene

  • Ubiquitination at Lys261
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for PLSCR1 (Phospholipid Scramblase 1/PLSCR1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for PLSCR1

No data available for DME Specific Peptides for PLSCR1 Gene

Domains & Families for PLSCR1 Gene

Gene Families for PLSCR1 Gene

Protein Domains for PLSCR1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PLSCR1 Gene

Graphical View of Domain Structure for InterPro Entry

O15162

UniProtKB/Swiss-Prot:

PLS1_HUMAN :
  • The N-terminal proline-rich domain (PRD) is required for phospholipid scramblase activity.
  • Belongs to the phospholipid scramblase family.
Domain:
  • The N-terminal proline-rich domain (PRD) is required for phospholipid scramblase activity.
Family:
  • Belongs to the phospholipid scramblase family.
genes like me logo Genes that share domains with PLSCR1: view

Function for PLSCR1 Gene

Molecular function for PLSCR1 Gene

UniProtKB/Swiss-Prot Function:
May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system.
UniProtKB/Swiss-Prot Function:
May play a role in the antiviral response of interferon (IFN) by amplifying and enhancing the IFN response through increased expression of select subset of potent antiviral genes. May contribute to cytokine-regulated cell proliferation and differentiation.
UniProtKB/Swiss-Prot Induction:
By phosphorylation by PKC. Induced by IFNB1/IFN-beta in response to a viral infection.

Gene Ontology (GO) - Molecular Function for PLSCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 16091359
GO:0003677 DNA binding IEA --
GO:0005154 epidermal growth factor receptor binding IPI 12009895
GO:0005509 calcium ion binding NAS 9218461
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with PLSCR1: view
genes like me logo Genes that share phenotypes with PLSCR1: view

Animal Models for PLSCR1 Gene

MGI Knock Outs for PLSCR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PLSCR1

CRISPR Products

miRNA for PLSCR1 Gene

miRTarBase miRNAs that target PLSCR1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLSCR1 Gene

Localization for PLSCR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLSCR1 Gene

Cell membrane; Single-pass type II membrane protein. Membrane; Lipid-anchor; Cytoplasmic side. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLSCR1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
golgi apparatus 5
mitochondrion 1
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for PLSCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20870722
GO:0005730 nucleolus IDA 17567603
GO:0005794 Golgi apparatus IDA 12586838
GO:0005829 cytosol IDA 17712045
GO:0005886 plasma membrane IDA 17712045
genes like me logo Genes that share ontologies with PLSCR1: view

Pathways & Interactions for PLSCR1 Gene

SuperPathways for PLSCR1 Gene

SuperPathway Contained pathways
1 EGF/EGFR Signaling Pathway
genes like me logo Genes that share pathways with PLSCR1: view

Pathways by source for PLSCR1 Gene

1 BioSystems pathway for PLSCR1 Gene

SIGNOR curated interactions for PLSCR1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PLSCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006659 phosphatidylserine biosynthetic process ISS --
GO:0006915 apoptotic process IDA 10770950
GO:0006953 acute-phase response ISS --
GO:0010628 positive regulation of gene expression IMP 15308695
genes like me logo Genes that share ontologies with PLSCR1: view

Drugs & Compounds for PLSCR1 Gene

(3) Drugs for PLSCR1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(515) Additional Compounds for PLSCR1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PC(18:1(9Z)e/2:0)
  • (2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
PE(P-16:0e/16:0)
  • 2-Hexadecanoyl-1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine
PEP-16:0/18:1(11Z))
  • 1-(1-Enyl-palmitoyl)-2-vaccenoyl-sn-glycero-3-phosphoethanolamine
  • GPEtn(16:0/18:1)
  • GPEtn(16:0/18:1n7)
  • GPEtn(16:0/18:1w7)
  • GPEtn(34:1)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-Trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
68737-67-7
Phosphatidylcholines Group B
  • 1-(1-Enyl-vaccenoyl)-2-stearidonoyl-sn-glycero-3-phosphocholine
  • GPCho(18:1/18:4)
  • GPCho(18:1n7/18:4n3)
  • GPCho(18:1w7/18:4w3)
  • GPCho(36:5)
88542-95-4
genes like me logo Genes that share compounds with PLSCR1: view

Transcripts for PLSCR1 Gene

Unigene Clusters for PLSCR1 Gene

Phospholipid scramblase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLSCR1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
SP1: - - - - - - - - - -
SP2: - -
SP3: - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - - - -
SP8: - - - - - - -
SP9: - - - - - - - -
SP10: - - - - - -
SP11: - - -
SP12: - - -
SP13: - - - -
SP14: - - - - -
SP15:

Relevant External Links for PLSCR1 Gene

GeneLoc Exon Structure for
PLSCR1
ECgene alternative splicing isoforms for
PLSCR1

Expression for PLSCR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLSCR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLSCR1 Gene

This gene is overexpressed in Whole Blood (x5.9).

Protein differential expression in normal tissues from HIPED for PLSCR1 Gene

This gene is overexpressed in Urine (12.1) and Fetal gut (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PLSCR1 Gene



Protein tissue co-expression partners for PLSCR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLSCR1 Gene:

PLSCR1

SOURCE GeneReport for Unigene cluster for PLSCR1 Gene:

Hs.130759

mRNA Expression by UniProt/SwissProt for PLSCR1 Gene:

O15162-PLS1_HUMAN
Tissue specificity: Expressed in platelets, erythrocyte membranes, lymphocytes, spleen, thymus, prostate, testis, uterus, intestine, colon, heart, placenta, lung, liver, kidney and pancreas. Not detected in brain and skeletal muscle.

Evidence on tissue expression from TISSUES for PLSCR1 Gene

  • Blood(4.4)
  • Intestine(4.4)
  • Liver(4.4)
  • Kidney(4.3)
  • Stomach(2.4)
  • Bone marrow(2.3)
genes like me logo Genes that share expression patterns with PLSCR1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PLSCR1 Gene

Orthologs for PLSCR1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PLSCR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLSCR1 34 35
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia LOC611500 34
  • 86 (n)
-- 35
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Plscr1 34 16 35
  • 80.72 (n)
1700057G04Rik 35
  • 68 (a)
ManyToMany
Plscr2 35
  • 68 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Plscr1 34
  • 80.07 (n)
cow
(Bos Taurus)
Mammalia PLSCR2 35
  • 80 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 70 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves PLSCR1 34
  • 70.1 (n)
-- 35
  • 67 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 62 (a)
ManyToMany
-- 35
  • 59 (a)
ManyToMany
-- 35
  • 48 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489273 34
  • 70.01 (n)
Str.951 34
zebrafish
(Danio rerio)
Actinopterygii si:ch73-206p6.1 35
  • 62 (a)
ManyToMany
si:ch211-71m22.5 35
  • 61 (a)
ManyToMany
si:ch211-71m22.1 35
  • 59 (a)
ManyToMany
plscr3b 34
  • 58.53 (n)
FP245465.1 35
  • 41 (a)
ManyToMany
si:ch211-71m22.3 35
  • 37 (a)
ManyToMany
Dr.16684 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005504 34
  • 57.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta scramb1 34 35
  • 54.67 (n)
CG1893 36
  • 51 (a)
scramb2 35
  • 47 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea scrm-1 34
  • 50.6 (n)
ZK1053.5 36
  • 42 (a)
scrm-2 35
  • 39 (a)
ManyToMany
C04E12.7 36
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM25 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7036 35
  • 46 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10381 34
Species where no ortholog for PLSCR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLSCR1 Gene

ENSEMBL:
Gene Tree for PLSCR1 (if available)
TreeFam:
Gene Tree for PLSCR1 (if available)

Paralogs for PLSCR1 Gene

Paralogs for PLSCR1 Gene

Pseudogenes.org Pseudogenes for PLSCR1 Gene

genes like me logo Genes that share paralogs with PLSCR1: view

Variants for PLSCR1 Gene

Sequence variations from dbSNP and Humsavar for PLSCR1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000196043 -- 146,543,990(+) CTTCA(C/T)TGAAT intron-variant
rs1000272049 -- 146,517,787(+) GCTCC(A/G)AAGTA intron-variant
rs1000359716 -- 146,514,784(+) GCTGT(-/C)CCACA downstream-variant-500B
rs1000373474 -- 146,534,607(+) GATGA(C/T)TTCAG intron-variant
rs1000544229 -- 146,540,477(+) CCATC(A/T)CTTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLSCR1 Gene

Variant ID Type Subtype PubMed ID
esv2496437 CNV deletion 19546169
esv2726024 CNV deletion 23290073
esv3569042 CNV loss 25503493
nsv1014493 CNV gain 25217958
nsv822282 CNV gain 20364138

Variation tolerance for PLSCR1 Gene

Residual Variation Intolerance Score: 79.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.96; 59.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLSCR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLSCR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLSCR1 Gene

Disorders for PLSCR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLSCR1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
scott syndrome
  • bdplt7
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PLSCR1

Human Genome Epidemiology (HuGE) Navigator
PLSCR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLSCR1
genes like me logo Genes that share disorders with PLSCR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLSCR1 Gene

Publications for PLSCR1 Gene

  1. Phospholipid scramblase 1 binds to the promoter region of the inositol 1,4,5-triphosphate receptor type 1 gene to enhance its expression. (PMID: 16091359) Zhou Q. … Sims P.J. (J. Biol. Chem. 2005) 3 4 22 64
  2. Phospholipid scramblase 1 contains a nonclassical nuclear localization signal with unique binding site in importin alpha. (PMID: 15611084) Chen M.H. … Cingolani G. (J. Biol. Chem. 2005) 3 4 22 64
  3. Phospholipid scramblase 1 potentiates the antiviral activity of interferon. (PMID: 15308695) Dong B. … Silverman R.H. (J. Virol. 2004) 3 4 22 64
  4. Palmitoylation of phospholipid scramblase 1 controls its distribution between nucleus and plasma membrane. (PMID: 12564925) Wiedmer T. … Sims P.J. (Biochemistry 2003) 3 4 22 64
  5. Identification of three new members of the phospholipid scramblase gene family. (PMID: 10930526) Wiedmer T. … Sims P.J. (Biochim. Biophys. Acta 2000) 3 4 22 64

Products for PLSCR1 Gene

  • R&D Systems