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PHACTR1 (phosphatase and actin regulator 1)

Identity

Alias_namesRPEL1
RPEL repeat containing 1
Alias_symbol (synonym)KIAA1733
dJ257A7.2
Other aliasRPEL
HGNC (Hugo) PHACTR1
LocusID (NCBI) 221692
Atlas_Id 53441
Location 6p24.1  [Link to chromosome band 6p24]
Location_base_pair Starts at 12716656 and ends at 13287843 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FARS2 (6p25.1) / PHACTR1 (6p24.1)PHACTR1 (6p24.1) / BCL11A (2p16.1)PHACTR1 (6p24.1) / PHACTR1 (6p24.1)
SOCS7 (17q12) / PHACTR1 (6p24.1)ZNF638 (2p13.2) / PHACTR1 (6p24.1)FARS2 6p25.1 / PHACTR1 6p24.1
PHACTR1 6p24.1 / BCL11A 2p16.1SOCS7 17q12 / PHACTR1 6p24.1ZNF638 2p13.2 / PHACTR1 6p24.1

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) [ 5 ]
  t(2;6)(p13;p24) ZNF638/PHACTR1
t(2;6)(p16;p24) PHACTR1/BCL11A
t(2;6)(p23;p24) PHACTR1/ALK
t(6;6)(p24;p25) FARS2/PHACTR1
t(6;17)(p24;q12) SOCS7/PHACTR1


External links

Nomenclature
HGNC (Hugo)PHACTR1   20990
Cards
Entrez_Gene (NCBI)PHACTR1  221692  phosphatase and actin regulator 1
AliasesRPEL; RPEL1; dJ257A7.2
GeneCards (Weizmann)PHACTR1
Ensembl hg19 (Hinxton)ENSG00000112137 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112137 [Gene_View]  chr6:12716656-13287843 [Contig_View]  PHACTR1 [Vega]
ICGC DataPortalENSG00000112137
TCGA cBioPortalPHACTR1
AceView (NCBI)PHACTR1
Genatlas (Paris)PHACTR1
WikiGenes221692
SOURCE (Princeton)PHACTR1
Genetics Home Reference (NIH)PHACTR1
Genomic and cartography
GoldenPath hg38 (UCSC)PHACTR1  -     chr6:12716656-13287843 +  6p24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHACTR1  -     6p24.1   [Description]    (hg19-Feb_2009)
EnsemblPHACTR1 - 6p24.1 [CytoView hg19]  PHACTR1 - 6p24.1 [CytoView hg38]
Mapping of homologs : NCBIPHACTR1 [Mapview hg19]  PHACTR1 [Mapview hg38]
OMIM608723   
Gene and transcription
Genbank (Entrez)AA809685 AB051520 AK090769 AK290017 AK295263
RefSeq transcript (Entrez)NM_001242648 NM_001322308 NM_001322309 NM_001322310 NM_001322311 NM_001322312 NM_001322313 NM_001322314 NM_030948
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHACTR1
Cluster EST : UnigeneHs.436996 [ NCBI ]
CGAP (NCI)Hs.436996
Alternative Splicing GalleryENSG00000112137
Gene ExpressionPHACTR1 [ NCBI-GEO ]   PHACTR1 [ EBI - ARRAY_EXPRESS ]   PHACTR1 [ SEEK ]   PHACTR1 [ MEM ]
Gene Expression Viewer (FireBrowse)PHACTR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)221692
GTEX Portal (Tissue expression)PHACTR1
Human Protein AtlasENSG00000112137-PHACTR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C0D0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9C0D0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9C0D0
Splice isoforms : SwissVarQ9C0D0
PhosPhoSitePlusQ9C0D0
Domaine pattern : Prosite (Expaxy)RPEL (PS51073)   
Domains : Interpro (EBI)Phactr1    RPEL_repeat   
Domain families : Pfam (Sanger)RPEL (PF02755)   
Domain families : Pfam (NCBI)pfam02755   
Domain families : Smart (EMBL)RPEL (SM00707)  
Conserved Domain (NCBI)PHACTR1
DMDM Disease mutations221692
Blocks (Seattle)PHACTR1
SuperfamilyQ9C0D0
Human Protein Atlas [tissue]ENSG00000112137-PHACTR1 [tissue]
Peptide AtlasQ9C0D0
HPRD12283
IPIIPI00028318   IPI00748039   IPI00909753   IPI00552134   IPI01011147   IPI00607631   IPI00607612   IPI00552182   IPI00514862   
Protein Interaction databases
DIP (DOE-UCLA)Q9C0D0
IntAct (EBI)Q9C0D0
FunCoupENSG00000112137
BioGRIDPHACTR1
STRING (EMBL)PHACTR1
ZODIACPHACTR1
Ontologies - Pathways
QuickGOQ9C0D0
Ontology : AmiGOactin binding  protein phosphatase inhibitor activity  nucleus  cytosol  protein phosphatase 1 binding  cell junction  actomyosin structure organization  actin cytoskeleton reorganization  negative regulation of phosphoprotein phosphatase activity  stress fiber assembly  synapse  cell motility  
Ontology : EGO-EBIactin binding  protein phosphatase inhibitor activity  nucleus  cytosol  protein phosphatase 1 binding  cell junction  actomyosin structure organization  actin cytoskeleton reorganization  negative regulation of phosphoprotein phosphatase activity  stress fiber assembly  synapse  cell motility  
NDEx NetworkPHACTR1
Atlas of Cancer Signalling NetworkPHACTR1
Wikipedia pathwaysPHACTR1
Orthology - Evolution
OrthoDB221692
GeneTree (enSembl)ENSG00000112137
Phylogenetic Trees/Animal Genes : TreeFamPHACTR1
HOVERGENQ9C0D0
HOGENOMQ9C0D0
Homologs : HomoloGenePHACTR1
Homology/Alignments : Family Browser (UCSC)PHACTR1
Gene fusions - Rearrangements
Fusion : MitelmanFARS2/PHACTR1 [6p25.1/6p24.1]  [t(6;6)(p24;p25)]  
Fusion : MitelmanPHACTR1/BCL11A [6p24.1/2p16.1]  [t(2;6)(p16;p24)]  
Fusion : MitelmanSOCS7/PHACTR1 [17q12/6p24.1]  [t(6;17)(p24;q12)]  
Fusion : MitelmanZNF638/PHACTR1 [2p13.2/6p24.1]  [t(2;6)(p13;p24)]  
Fusion: TCGA_MDACCFARS2 6p25.1 PHACTR1 6p24.1 HNSC
Fusion: TCGA_MDACCPHACTR1 6p24.1 BCL11A 2p16.1 LUAD
Fusion: TCGA_MDACCSOCS7 17q12 PHACTR1 6p24.1 BRCA
Fusion: TCGA_MDACCZNF638 2p13.2 PHACTR1 6p24.1 LUAD
Fusion PortalFARS2 6p25.1 PHACTR1 6p24.1 HNSC
Fusion PortalPHACTR1 6p24.1 BCL11A 2p16.1 LUAD
Fusion PortalSOCS7 17q12 PHACTR1 6p24.1 BRCA
Fusion PortalZNF638 2p13.2 PHACTR1 6p24.1 LUAD
Fusion : QuiverPHACTR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHACTR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHACTR1
dbVarPHACTR1
ClinVarPHACTR1
1000_GenomesPHACTR1 
Exome Variant ServerPHACTR1
ExAC (Exome Aggregation Consortium)ENSG00000112137
GNOMAD BrowserENSG00000112137
Genetic variants : HAPMAP221692
Genomic Variants (DGV)PHACTR1 [DGVbeta]
DECIPHERPHACTR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHACTR1 
Mutations
ICGC Data PortalPHACTR1 
TCGA Data PortalPHACTR1 
Broad Tumor PortalPHACTR1
OASIS PortalPHACTR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHACTR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHACTR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PHACTR1
DgiDB (Drug Gene Interaction Database)PHACTR1
DoCM (Curated mutations)PHACTR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHACTR1 (select a term)
intoGenPHACTR1
Cancer3DPHACTR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608723   
Orphanet
DisGeNETPHACTR1
MedgenPHACTR1
Genetic Testing Registry PHACTR1
NextProtQ9C0D0 [Medical]
TSGene221692
GENETestsPHACTR1
Target ValidationPHACTR1
Huge Navigator PHACTR1 [HugePedia]
snp3D : Map Gene to Disease221692
BioCentury BCIQPHACTR1
ClinGenPHACTR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD221692
Chemical/Pharm GKB GenePA134923900
Clinical trialPHACTR1
Miscellaneous
canSAR (ICR)PHACTR1 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHACTR1
EVEXPHACTR1
GoPubMedPHACTR1
iHOPPHACTR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon May 14 12:09:26 CEST 2018

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