Aliases for PLSCR3 Gene

Aliases for PLSCR3 Gene

  • Phospholipid Scramblase 3 2 3 4 5
  • Ca(2+)-Dependent Phospholipid Scramblase 3 3 4
  • PL Scramblase 3 3 4
  • PLSCR3 5

External Ids for PLSCR3 Gene

Previous GeneCards Identifiers for PLSCR3 Gene

  • GC16P055602
  • GC17M008022
  • GC17M007235
  • GC17M007493
  • GC17M007233
  • GC17M007294

Summaries for PLSCR3 Gene

GeneCards Summary for PLSCR3 Gene

PLSCR3 (Phospholipid Scramblase 3) is a Protein Coding gene. Diseases associated with PLSCR3 include Barth Syndrome. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent protein binding. An important paralog of this gene is PLSCR1.

UniProtKB/Swiss-Prot Summary for PLSCR3 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. Seems to play a role in apoptosis, through translocation of cardiolipin from the inner to the outer mitochondrial membrane which promotes BID recruitment and enhances tBid-induced mitochondrial damages.

Gene Wiki entry for PLSCR3 Gene

Additional gene information for PLSCR3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLSCR3 Gene

Genomics for PLSCR3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLSCR3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLSCR3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLSCR3

Top Transcription factor binding sites by QIAGEN in the PLSCR3 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Bach2
  • c-Myc
  • Evi-1
  • Max1
  • p300

Genomic Locations for PLSCR3 Gene

Genomic Locations for PLSCR3 Gene
chr17:7,389,727-7,394,842
(GRCh38/hg38)
Size:
5,116 bases
Orientation:
Minus strand
chr17:7,293,046-7,307,416
(GRCh37/hg19)
Size:
14,371 bases
Orientation:
Minus strand

Genomic View for PLSCR3 Gene

Genes around PLSCR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLSCR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLSCR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLSCR3 Gene

Proteins for PLSCR3 Gene

  • Protein details for PLSCR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRY6-PLS3_HUMAN
    Recommended name:
    Phospholipid scramblase 3
    Protein Accession:
    Q9NRY6
    Secondary Accessions:
    • A8K252
    • Q567U0
    • Q8NBW6
    • Q96F13

    Protein attributes for PLSCR3 Gene

    Size:
    295 amino acids
    Molecular mass:
    31648 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts with PDCD6 in a calcium-dependent manner.

neXtProt entry for PLSCR3 Gene

Post-translational modifications for PLSCR3 Gene

  • Phosphorylation at Thr-21 by PKC/PRKCD upon apoptotic stimuli enhances flip-flop activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLSCR3 Gene

Domains & Families for PLSCR3 Gene

Gene Families for PLSCR3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for PLSCR3 Gene

InterPro:
Blocks:
  • Scramblase
ProtoNet:

Suggested Antigen Peptide Sequences for PLSCR3 Gene

GenScript: Design optimal peptide antigens:
  • Ca(2+)-dependent phospholipid scramblase 3 (PLS3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRY6

UniProtKB/Swiss-Prot:

PLS3_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 PLSCR3: view

Function for PLSCR3 Gene

Molecular function for PLSCR3 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. Seems to play a role in apoptosis, through translocation of cardiolipin from the inner to the outer mitochondrial membrane which promotes BID recruitment and enhances tBid-induced mitochondrial damages.

Phenotypes From GWAS Catalog for PLSCR3 Gene

Gene Ontology (GO) - Molecular Function for PLSCR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding NAS 10930526
GO:0005515 protein binding IPI 16189514
GO:0017124 SH3 domain binding IEA --
GO:0017128 phospholipid scramblase activity NAS 10930526
GO:0048306 calcium-dependent protein binding IPI 18256029
genes like me logo Genes that share ontologies with PLSCR3: view
genes like me logo Genes that share phenotypes with PLSCR3: view

Animal Models for PLSCR3 Gene

MGI Knock Outs for PLSCR3:

Animal Model Products

  • Taconic Biosciences Mouse Models for PLSCR3

CRISPR Products

miRNA for PLSCR3 Gene

miRTarBase miRNAs that target PLSCR3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLSCR3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLSCR3 Gene

Localization for PLSCR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLSCR3 Gene

Mitochondrion membrane. Single-pass type II membrane protein.

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 PLSCR3 gene
Compartment Confidence
plasma membrane 5
mitochondrion 4
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLSCR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005886 plasma membrane IBA,NAS 10930526
GO:0016020 membrane IBA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with PLSCR3: view

Pathways & Interactions for PLSCR3 Gene

PathCards logo

SuperPathways for PLSCR3 Gene

No Data Available

SIGNOR curated interactions for PLSCR3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PLSCR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0017121 phospholipid scrambling NAS 10930526
GO:0042593 glucose homeostasis IEA --
GO:0042632 cholesterol homeostasis IEA --
GO:0071222 cellular response to lipopolysaccharide IEA --
genes like me logo Genes that share ontologies with PLSCR3: view

No data available for Pathways by source for PLSCR3 Gene

Drugs & Compounds for PLSCR3 Gene

(2) Drugs for PLSCR3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PE(16:0/16:0) Experimental Pharma 0
Calcium Nutra 6556

(515) Additional Compounds for PLSCR3 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)
  • 1-(Hexadec-1-enyl)-2-palmitoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-[(1Z)-Hexadec-1-enyl]-2-hexadecanoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-[(1Z)-Hexadec-1-enyl]-2-palmitoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • PE(P-16:0/16:0)
  • 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-Hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine
  • 2-(9Z,12Z-Octadecadienoyl)-1-hexadecyl-sn-glycero-3-phosphocholine
  • PC Ae C34:2
  • PC(16:0E/18:2(9Z,12Z))
  • PC(O-34:2)
88542-95-4
genes like me logo Genes that share compounds with PLSCR3: view

Transcripts for PLSCR3 Gene

mRNA/cDNA for PLSCR3 Gene

6 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLSCR3

Alternative Splicing Database (ASD) splice patterns (SP) for PLSCR3 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12a · 12b ·
SP1: - - - - -
SP2: - -
SP3: - -
SP4: - - - -
SP5: - - -
SP6: - - - - -
SP7: - - - - - - -
SP8: - - - - - - -
SP9: - - - -
SP10: - - - - -
SP11: - - - -
SP12: -
SP13: - - - - - - - -
SP14: - - - - - - -
SP15: - -
SP16:
SP17: - - - - - - - - -
SP18: - - -
SP19: - - - - - - -
SP20: - - - - -
SP21: - - -
SP22: -
SP23: - - -
SP24: -
SP25: -
SP26:

ExUns: 12c ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ^ 17
SP1: -
SP2: -
SP3: -
SP4: - -
SP5:
SP6: -
SP7: - -
SP8: - -
SP9: - -
SP10: -
SP11: -
SP12: - -
SP13:
SP14: -
SP15: -
SP16: - - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23: - -
SP24:
SP25:
SP26:

Relevant External Links for PLSCR3 Gene

GeneLoc Exon Structure for
PLSCR3

Expression for PLSCR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLSCR3 Gene

Protein differential expression in normal tissues from HIPED for PLSCR3 Gene

This gene is overexpressed in Bone (13.8) and Peripheral blood mononuclear cells (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLSCR3 Gene



Protein tissue co-expression partners for PLSCR3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLSCR3

SOURCE GeneReport for Unigene cluster for PLSCR3 Gene:

Hs.534591

mRNA Expression by UniProt/SwissProt for PLSCR3 Gene:

Q9NRY6-PLS3_HUMAN
Tissue specificity: Expressed in heart, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, uterus, small intestine and peripheral blood lymphocytes. Not detected in testis, brain and liver.

Evidence on tissue expression from TISSUES for PLSCR3 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with PLSCR3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLSCR3 Gene

Orthologs for PLSCR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLSCR3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLSCR3 30
  • 99.55 (n)
TMEM256-PLSCR3 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PLSCR3 30 31
  • 90.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLSCR3 30
  • 88.89 (n)
TMEM256-PLSCR3 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plscr3 30
  • 87.12 (n)
Mouse
(Mus musculus)
Mammalia Plscr3 30 17 31
  • 86.44 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM256-PLSCR3 31
  • 72 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMEM256-PLSCR3 31
  • 60 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMEM256-PLSCR3 31
  • 46 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2011 30
Zebrafish
(Danio rerio)
Actinopterygii plscr3a 31
  • 48 (a)
OneToMany
plscr3b 31
  • 45 (a)
OneToMany
CR848032.2 31
  • 23 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4717 30
Fruit Fly
(Drosophila melanogaster)
Insecta scramb2 30 31
  • 52.4 (n)
ManyToMany
scramb1 31
  • 32 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea ZK1053.5 32
  • 40 (a)
scrm-3 31
  • 34 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2436 31
  • 53 (a)
OneToMany
Species where no ortholog for PLSCR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for PLSCR3 Gene

ENSEMBL:
Gene Tree for PLSCR3 (if available)
TreeFam:
Gene Tree for PLSCR3 (if available)

Paralogs for PLSCR3 Gene

Paralogs for PLSCR3 Gene

(5) SIMAP similar genes for PLSCR3 Gene using alignment to 1 proteins:

  • PLS3_HUMAN
genes like me logo Genes that share paralogs with PLSCR3: view

Variants for PLSCR3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLSCR3 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
773062 Benign: not provided 7,392,914(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs3744549 - p.Val293Ile

Additional dbSNP identifiers (rs#s) for PLSCR3 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLSCR3 Gene

Variant ID Type Subtype PubMed ID
esv1007381 CNV deletion 20482838
esv2422288 CNV deletion 17116639
nsv457659 CNV loss 19166990
nsv470575 CNV loss 18288195
nsv523672 CNV loss