Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PLSCR1 (phospholipid scramblase 1)

Identity

Alias_symbol (synonym)MMTRA1B
Other alias
HGNC (Hugo) PLSCR1
LocusID (NCBI) 5359
Atlas_Id 45949
Location 3q24  [Link to chromosome band 3q24]
Location_base_pair Starts at 146515180 and ends at 146544841 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CTNND1 (11q12.1) / PLSCR1 (3q24)ITGB4 (17q25.1) / PLSCR1 (3q24)PLSCR1 (3q24) / PLSCR1 (3q24)
PLSCR2 (3q24) / PLSCR1 (3q24)SULF1 (8q13.2) / PLSCR1 (3q24)U2SURP (3q23) / PLSCR1 (3q24)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)PLSCR1   9092
Cards
Entrez_Gene (NCBI)PLSCR1  5359  phospholipid scramblase 1
AliasesMMTRA1B
GeneCards (Weizmann)PLSCR1
Ensembl hg19 (Hinxton)ENSG00000188313 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188313 [Gene_View]  chr3:146515180-146544841 [Contig_View]  PLSCR1 [Vega]
ICGC DataPortalENSG00000188313
TCGA cBioPortalPLSCR1
AceView (NCBI)PLSCR1
Genatlas (Paris)PLSCR1
WikiGenes5359
SOURCE (Princeton)PLSCR1
Genetics Home Reference (NIH)PLSCR1
Genomic and cartography
GoldenPath hg38 (UCSC)PLSCR1  -     chr3:146515180-146544841 -  3q24   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLSCR1  -     3q24   [Description]    (hg19-Feb_2009)
EnsemblPLSCR1 - 3q24 [CytoView hg19]  PLSCR1 - 3q24 [CytoView hg38]
Mapping of homologs : NCBIPLSCR1 [Mapview hg19]  PLSCR1 [Mapview hg38]
OMIM604170   
Gene and transcription
Genbank (Entrez)AB006746 AF098642 AK300181 AK313377 BC017901
RefSeq transcript (Entrez)NM_021105
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLSCR1
Cluster EST : UnigeneHs.130759 [ NCBI ]
CGAP (NCI)Hs.130759
Alternative Splicing GalleryENSG00000188313
Gene ExpressionPLSCR1 [ NCBI-GEO ]   PLSCR1 [ EBI - ARRAY_EXPRESS ]   PLSCR1 [ SEEK ]   PLSCR1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLSCR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5359
GTEX Portal (Tissue expression)PLSCR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15162   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15162  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15162
Splice isoforms : SwissVarO15162
PhosPhoSitePlusO15162
Domains : Interpro (EBI)Scramblase   
Domain families : Pfam (Sanger)Scramblase (PF03803)   
Domain families : Pfam (NCBI)pfam03803   
Conserved Domain (NCBI)PLSCR1
DMDM Disease mutations5359
Blocks (Seattle)PLSCR1
PDB (SRS)1Y2A   
PDB (PDBSum)1Y2A   
PDB (IMB)1Y2A   
PDB (RSDB)1Y2A   
Structural Biology KnowledgeBase1Y2A   
SCOP (Structural Classification of Proteins)1Y2A   
CATH (Classification of proteins structures)1Y2A   
SuperfamilyO15162
Human Protein AtlasENSG00000188313
Peptide AtlasO15162
HPRD08855
IPIIPI00005181   IPI00943188   IPI00477727   IPI00946274   IPI00797396   IPI00788751   IPI00790091   IPI00789500   IPI00947520   IPI00946454   
Protein Interaction databases
DIP (DOE-UCLA)O15162
IntAct (EBI)O15162
FunCoupENSG00000188313
BioGRIDPLSCR1
STRING (EMBL)PLSCR1
ZODIACPLSCR1
Ontologies - Pathways
QuickGOO15162
Ontology : AmiGOtranscriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  epidermal growth factor receptor binding  calcium ion binding  calcium ion binding  protein binding  nucleus  nucleolus  Golgi apparatus  cytosol  plasma membrane  integral component of plasma membrane  transcription from RNA polymerase II promoter  phosphatidylserine biosynthetic process  apoptotic process  acute-phase response  positive regulation of gene expression  membrane  phospholipid scrambling  SH3 domain binding  phospholipid scramblase activity  enzyme binding  platelet activation  extracellular matrix  regulation of mast cell activation  response to interferon-beta  CD4 receptor binding  negative regulation of viral genome replication  positive regulation of innate immune response  membrane raft  positive regulation of transcription from RNA polymerase II promoter  defense response to virus  regulation of Fc receptor mediated stimulatory signaling pathway  extracellular exosome  positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity  
Ontology : EGO-EBItranscriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  epidermal growth factor receptor binding  calcium ion binding  calcium ion binding  protein binding  nucleus  nucleolus  Golgi apparatus  cytosol  plasma membrane  integral component of plasma membrane  transcription from RNA polymerase II promoter  phosphatidylserine biosynthetic process  apoptotic process  acute-phase response  positive regulation of gene expression  membrane  phospholipid scrambling  SH3 domain binding  phospholipid scramblase activity  enzyme binding  platelet activation  extracellular matrix  regulation of mast cell activation  response to interferon-beta  CD4 receptor binding  negative regulation of viral genome replication  positive regulation of innate immune response  membrane raft  positive regulation of transcription from RNA polymerase II promoter  defense response to virus  regulation of Fc receptor mediated stimulatory signaling pathway  extracellular exosome  positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity  
NDEx NetworkPLSCR1
Atlas of Cancer Signalling NetworkPLSCR1
Wikipedia pathwaysPLSCR1
Orthology - Evolution
OrthoDB5359
GeneTree (enSembl)ENSG00000188313
Phylogenetic Trees/Animal Genes : TreeFamPLSCR1
HOVERGENO15162
HOGENOMO15162
Homologs : HomoloGenePLSCR1
Homology/Alignments : Family Browser (UCSC)PLSCR1
Gene fusions - Rearrangements
Fusion Cancer (Beijing)PLSCR2 [3q24]  -  PLSCR1 [3q24]  [FUSC004695]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLSCR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLSCR1
dbVarPLSCR1
ClinVarPLSCR1
1000_GenomesPLSCR1 
Exome Variant ServerPLSCR1
ExAC (Exome Aggregation Consortium)PLSCR1 (select the gene name)
Genetic variants : HAPMAP5359
Genomic Variants (DGV)PLSCR1 [DGVbeta]
DECIPHERPLSCR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLSCR1 
Mutations
ICGC Data PortalPLSCR1 
TCGA Data PortalPLSCR1 
Broad Tumor PortalPLSCR1
OASIS PortalPLSCR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLSCR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLSCR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PLSCR1
DgiDB (Drug Gene Interaction Database)PLSCR1
DoCM (Curated mutations)PLSCR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLSCR1 (select a term)
intoGenPLSCR1
Cancer3DPLSCR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604170   
Orphanet
MedgenPLSCR1
Genetic Testing Registry PLSCR1
NextProtO15162 [Medical]
TSGene5359
GENETestsPLSCR1
Target ValidationPLSCR1
Huge Navigator PLSCR1 [HugePedia]
snp3D : Map Gene to Disease5359
BioCentury BCIQPLSCR1
ClinGenPLSCR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5359
Chemical/Pharm GKB GenePA33419
Clinical trialPLSCR1
Miscellaneous
canSAR (ICR)PLSCR1 (select the gene name)
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLSCR1
EVEXPLSCR1
GoPubMedPLSCR1
iHOPPLSCR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:10:58 CEST 2017

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