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PLSCR1 Gene

protein-coding   GIFtS: 64
GCID: GC03M146232

Phospholipid Scramblase 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phospholipid Scramblase 11 2
Ca(2+)-Dependent Phospholipid Scramblase 12 3
Erythrocyte Phospholipid Scramblase2 3
PL Scramblase 12 3
MMTRA1B2 5
MmTRA1b3

External Ids:    HGNC: 90921   Entrez Gene: 53592   Ensembl: ENSG000001883137   OMIM: 6041705   UniProtKB: O151623   

Export aliases for PLSCR1 gene to outside databases

Previous GC identifers: GC03M143025 GC03M147108 GC03M147514 GC03M147553 GC03M147715 GC03M143612


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PLSCR1 Gene:
PLSCR1 (phospholipid scramblase 1) is a protein-coding gene. Diseases associated with PLSCR1 include alexia, and scott syndrome. GO annotations related to this gene include SH3 domain binding and calcium ion binding. An important paralog of this gene is PLSCR2.

UniProtKB/Swiss-Prot: PLS1_HUMAN, O15162
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
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

Gene Wiki entry for PLSCR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PLSCR1 gene promoter:
         STAT1   POU3F1   NCX/Ncx   HSF1 (long)   FOXD3   HNF-3beta   Evi-1   HSF2   HSF1short   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLSCR1 promoter sequence
   Search Chromatin IP Primers for PLSCR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLSCR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q23   Ensembl cytogenetic band:  3q24   HGNC cytogenetic band: 3q23

PLSCR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLSCR1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M146232:  view genomic region     (about GC identifiers)

Start:
146,232,967 bp from pter      End:
146,262,651 bp from pter
Size:
29,685 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PLS1_HUMAN, O15162 (See protein sequence)
Recommended Name: Phospholipid scramblase 1  
Size: 318 amino acids; 35049 Da
Cofactor: Calcium
Subunit: Interacts with ABL
1 PDB 3D structure from and Proteopedia for PLSCR1:
1Y2A (3D)    
Secondary accessions: B2R8H8

Explore the universe of human proteins at neXtProt for PLSCR1: NX_O15162

Explore proteomics data for PLSCR1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys261
  • Modification sites at PhosphoSitePlus

  • See PLSCR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_066928.1  
    ENSEMBL proteins: 
     ENSP00000345494   ENSP00000419680   ENSP00000419228   ENSP00000417792   ENSP00000417469  
     ENSP00000411675   ENSP00000418654   ENSP00000417733   ENSP00000420006   ENSP00000417588  
     ENSP00000418103   ENSP00000418550   ENSP00000420523   ENSP00000414653  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR005552 Scramblase

    Graphical View of Domain Structure for InterPro Entry O15162

    ProtoNet protein and cluster: O15162

    1 Blocks protein domain: IPB005552 Scramblase

    UniProtKB/Swiss-Prot: PLS1_HUMAN, O15162
    Similarity: Belongs to the phospholipid scramblase family


    PLSCR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLS1_HUMAN, O15162
    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
    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
    Induction: By phosphorylation by PKC. Induced by IFNB1/IFN-beta in response to a viral infection

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA16091359
    GO:0003677DNA binding IEA--
    GO:0005154epidermal growth factor receptor binding IPI12009895
    GO:0005509calcium ion binding NAS9218461
    GO:0005515protein binding IPI16189514
         
    PLSCR1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PLSCR1:
     Increased cell number in G1, a 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Plscr1):
     adipose tissue  cellular  hematopoietic system  homeostasis/metabolism  immune system 

    PLSCR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Plscr1tm1Lex for PLSCR1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLSCR1
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    Block miRNA regulation of human, mouse, rat PLSCR1 using miScript Target Protectors
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PLS1_HUMAN, O15162: Membrane; Single-pass type II membrane protein. Membrane; Lipid-anchor; Cytoplasmic side.
    Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    golgi apparatus5
    nucleus5
    plasma membrane5
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA17567603
    GO:0005794Golgi apparatus IDA12586838
    GO:0005829cytosol IDA17712045
    GO:0005886plasma membrane IDA17712045

    PLSCR1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PLSCR1 About    
    See pathways by source

    SuperPathContained pathways About
    1EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway


    1 BioSystems Pathway for PLSCR1
        EGFR1 Signaling Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLSCR1
    Interactions:

        GeneGlobe Interaction Network for PLSCR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PLSCR1 (O151621, 2, 3 ENSP000003454944) via UniProtKB, MINT, STRING, and/or I2D (see all 217)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    -Q9WMX21, 2EBI-740019,EBI-710918 MINT-8198119 MINT-8198207 MINT-8198171 MINT-8198233 MINT-8198133 MINT-8198103 MINT-8198187 MINT-7046874 MINT-8198156
    TFGQ927341, 2, 3, ENSP000002408514EBI-740019,EBI-357061 MINT-67916 I2D: score=6 STRING: ENSP00000240851
    NEU4Q8WWR81, 2, 3, ENSP000003851494EBI-740019,EBI-746964 MINT-66956 I2D: score=5 STRING: ENSP00000385149
    ATN1P542592, 3, ENSP000003490764MINT-2861816 MINT-2861797 I2D: score=3 STRING: ENSP00000349076
    EXD3Q9NX532, 3, ENSP000003404744MINT-68202 I2D: score=2 I2D: score=3 STRING: ENSP00000340474
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006659phosphatidylserine biosynthetic process ISS--
    GO:0006915apoptotic process IDA10770950
    GO:0006953acute-phase response ISS--
    GO:0010628positive regulation of gene expression IMP15308695
    GO:0017121phospholipid scrambling IDA10770950

    PLSCR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PLSCR1 (PLS1)

    Selected HMDB Compounds for PLSCR1 (see all 2714)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(O-16:0/18:2(9Z,12Z))1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)88542-95-412486725
    PE(O-16:1(1Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 15)--12486725
    PE(O-18:1(1Z)/20:4(5Z,8Z,11Z,14Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 19)103597-60-012486725
    PE(P-16:0e/0:0)2-azaniumylethyl [(2R)-3-[(E)-hexadec-1-enoxy]-2-hydroxy-propyl] phosphate;1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine ;LysoPE(dm16:0e) --12486725
    PE(P-16:0e/18:1(9Z))2-(9Z-octadecanoyl)-1-hexadecyl-sn-glycero-3-phosphoethanolamine --12486725
    PS(16:0/16:0)Phosphatidylserine (16:0/16:0) (see all 14)3036-82-612486725
    CalciumCa (see all 2)7440-70-2--
    PC(14:0/14:0)Phosphatidylcholine(14:0/14:0) (see all 8)----
    PC(14:0/14:1(9Z))Phosphatidylcholine(14:0/14:1) (see all 14)----
    PC(14:0/15:0)GPCho(14:0/15:0) (see all 8)----

    7 Novoseek inferred chemical compound relationships for PLSCR1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phospholipid 79.4 75 14766753 (4), 12564925 (2), 12586838 (2), 15308695 (2) (see all 27)
    phosphatidylserine 65.2 7 12564925 (1), 10753839 (1), 12605885 (1), 14766753 (1) (see all 5)
    rottlerin 61.5 3 15308560 (1), 16260419 (1)
    inositol 1,4,5 trisphosphate 28.5 3 16091359 (2), 17481571 (1)
    retinoic acid 27.4 13 15308560 (5), 15954879 (1), 16260419 (1)
    calcium 12.2 8 12564925 (1), 17481571 (1), 19540310 (1), 18579528 (1)
    lipid 9.48 5 12586838 (2), 12564925 (1), 12009895 (1), 18579528 (1)



    PLSCR1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PLSCR1 gene: 
    NM_021105.2  

    Unigene Cluster for PLSCR1:

    Phospholipid scramblase 1
    Hs.130759  [show with all ESTs]
    Unigene Representative Sequence: NM_021105
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000342435(uc003evx.4 uc011bnn.2 uc003evz.4) ENST00000493432
    ENST00000463777 ENST00000487389 ENST00000468985 ENST00000448787 ENST00000488253
    ENST00000489775 ENST00000483300 ENST00000484560 ENST00000478267 ENST00000470496
    ENST00000462666 ENST00000486631 ENST00000472349 ENST00000494568 ENST00000490745
    ENST00000469266(uc003ewa.2)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QuantiTect SYBR Green Assays in human, mouse, rat PLSCR1
      QuantiFast Probe-based Assays in human, mouse, rat PLSCR1

    Additional mRNA sequence: 

    AB006746.1 AF098642.1 AK300181.1 AK313377.1 BC017901.1 BC021100.1 BC032718.1 BC070251.1 

    23 DOTS entries:

    DT.95166884  DT.95166947  DT.100814420  DT.95166848  DT.91763658  DT.100814417  DT.443538  DT.86847198 
    DT.100814415  DT.120867030  DT.91763660  DT.95167006  DT.97807136  DT.100648484  DT.100814413  DT.100814416 
    DT.100814419  DT.100835062  DT.120867011  DT.91763661  DT.95258526  DT.99995664  DT.120866990 

    Selected AceView cDNA sequences (see all 352):

    CB242338 BI870965 AB006746 CB216398 BP351079 BM985042 BU618503 BE018461 
    AA143025 AL542930 CB529227 CR623341 AW991498 AA156544 AI972854 CD368705 
    AA639381 BU615693 BM743297 BC021100 CR593697 CA307002 NM_021105 CA308728 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PLSCR1 (see all 15)    About this scheme

    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:                                -           -                             -           -                                                         


    ECgene alternative splicing isoforms for PLSCR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PLSCR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATGTTTAG
    PLSCR1 Expression
    About this image


    PLSCR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Larynx (Respiratory System)
    PLSCR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLSCR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.130759

    UniProtKB/Swiss-Prot: PLS1_HUMAN, O15162
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PLSCR1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plscr11 , 5 phospholipid scramblase 11, 5 80.72(n)1
    79.23(a)1
      9 (48.35 cM)5
    220381  NM_011636.21  NP_035766.21 
     922500575 
    chicken
    (Gallus gallus)
    Aves PLSCR11 phospholipid scramblase 1 70.1(n)
    71.13(a)
      424883  XM_001231236.3  XP_001231237.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    62(a)
    59(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    GL343435.1(310107-362033)
    4(579017-579873)
    African clawed frog
    (Xenopus laevis)
    Amphibia AW646104.12   -- 76.21(n)    AW646104.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.166842 Transcribed sequence with weak similarity to protein more 71.87(n)    BI883430.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG18933
    scramb11
    scramblase 11 51(a)3
    54.67(n)1
    58.91(a)1
      63A33
    3261861  NM_140132.31  NP_648389.31 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK1053.53
    scrm-11
    scrm-11 42(a)
    (best of 2)3
    50.6(n)1
    44.22(a)1
      I(13243237-13244647)3
    1730531  NM_060575.41  NP_492976.21 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLSCR1 gene
    PLSCR22  PLSCR52  PLSCR32  PLSCR42  
    5 SIMAP similar genes for PLSCR1 using alignment to 10 protein entries:     PLS1_HUMAN (see all proteins):
    PLSCR2    PLSCR5    PLSCR3    TMEM256-PLSCR3    PLSCR4

    PLSCR1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PLSCR1
    PGOHUM00000237805


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PLSCR1 (see all 724)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs4546451,2
    C,F,H--146232469(+) tgtgaC/Tcacat 1 -- int112Minor allele frequency- T:0.12NS NA CSA WA 1710
    rs1506453971,2
    C--146232508(+) GAGCCA/TTGAGT 1 -- int10--------
    rs1396784101,2
    --146232516(+) AGTGCC/TGATAT 1 -- int10--------
    rs768089651,2
    F--146232555(+) TTGCTG/TGTGGA 1 -- int11Minor allele frequency- T:0.03WA 118
    rs738657681,2
    C,F--146232573(+) TGTCCC/GACATG 1 -- int12Minor allele frequency- G:0.06WA 120
    rs1493513891,2
    --146232618(+) AAGCCA/GTCCAC 1 -- int10--------
    rs1900065141,2
    --146232678(+) GAATCA/GCAGGC 1 -- int10--------
    rs729866251,2
    C--146232832(+) GCTGAG/ATAAAC 1 -- int14Minor allele frequency- A:0.09WA NA EA 360
    rs1448182201,2
    --146232859(+) GAGTCC/TTGTGA 1 -- int10--------
    rs753635681,2
    F--146232900(+) TACCAT/ACATTT 1 -- int11Minor allele frequency- A:0.04WA 118

    HapMap Linkage Disequilibrium report for PLSCR1 (146232967 - 146262651 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PLSCR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726024CNV Deletion23290073
    esv2496437CNV Deletion19546169
    nsv877606CNV Gain21882294
    nsv822282CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604170    OMIM disorders: --

    Selected diseases for PLSCR1 (see all 21):    
    About MalaCards
    alexia    scott syndrome    antiphospholipid syndrome    hepatitis c virus
    systemic lupus erythematosus    hepatitis c    ischemia    lupus erythematosus
    hepatitis    hepatitis b    pancreatic cancer    cerebritis
    ataxia    endotheliitis    colorectal cancer    myeloid leukemia
    pancreatitis    hiv-1    malaria    leukemia


    PLSCR1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PLSCR1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 3 11809687 (2), 10753839 (1)

    Human Genome Epidemiology (HuGE) Navigator: PLSCR1 (1 document)

    Export disorders for PLSCR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PLSCR1 gene, integrated from 10 sources (see all 81):
    (articles sorted by number of sources associating them with PLSCR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of human plasma membrane phospholipid scramblase. A protein mediating transbilayer movement of plasma membrane phospholipids. (PubMed id 9218461)1, 2, 3 Zhou Q.... Sims P.J. (J. Biol. Chem. 1997)
    2. Phospholipid scramblase 1 potentiates the antiviral activity of interferon. (PubMed id 15308695)1, 2, 9 Dong B....Silverman R.H. (J. Virol. 2004)
    3. Phospholipid scramblase 1 binds to the promoter region of the inositol 1,4,5-triphosphate receptor type 1 gene to enhance its expression. (PubMed id 16091359)1, 2, 9 Zhou Q....Sims P.J. (J. Biol. Chem. 2005)
    4. Palmitoylation of phospholipid scramblase 1 controls its distribution between nucleus and plasma membrane. (PubMed id 12564925)1, 2, 9 Wiedmer T.... Sims P.J. (Biochemistry 2003)
    5. Phospholipid scramblase 1 contains a nonclassical nuclear localization signal with unique binding site in importin alpha. (PubMed id 15611084)1, 2, 9 Chen M.H....Cingolani G. (J. Biol. Chem. 2005)
    6. Identification of three new members of the phospholipid scramblase gene family. (PubMed id 10930526)1, 2, 9 Wiedmer T.... Sims P.J. (Biochim. Biophys. Acta 2000)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. c-Abl tyrosine kinase binds and phosphorylates phospholipid scramblase 1. (PubMed id 11390389)1, 2 Sun J.... Sims P.J. (J. Biol. Chem. 2001)
    9. Regulation of phospholipid scramblase activity during apoptosis and cell activation by protein kinase Cdelta. (PubMed id 10770950)1, 2 Frasch S.C.... Bratton D.L. (J. Biol. Chem. 2000)
    10. Identity of human normal counterpart (MmTRA1b) of mouse leukemogenesis-associated gene (MmTRA1a) product as plasma membrane phospholipid scramblase and chromosome mapping of the human MmTRA1b/phospholipid scramblase gene. (PubMed id 9712717)1, 2 Kasukabe T.... Honma Y. (Biochem. Biophys. Res. Commun. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5359 HGNC: 9092 AceView: PLSCR1 Ensembl:ENSG00000188313 euGenes: HUgn5359
    ECgene: PLSCR1 H-InvDB: PLSCR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PLSCR1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Scramblase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PLSCR1 gene:
    Search GeneIP for patents involving PLSCR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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