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PHACTR4 (phosphatase and actin regulator 4)

Identity

Alias_namesregulatory subunit 124
Alias_symbol (synonym)FLJ13171
PPP1R124
Other alias
HGNC (Hugo) PHACTR4
LocusID (NCBI) 65979
Atlas_Id 53295
Location 1p35.3  [Link to chromosome band 1p35]
Location_base_pair Starts at 28438150 and ends at 28500369 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)
PHACTR4 (1p35.3) / HENMT1 (1p13.3)PHACTR4 (1p35.3) / RCC1 (1p35.3)TRNAU1AP (1p35.3) / PHACTR4 (1p35.3)
TRNAU1AP 1p35.3 / PHACTR4 1p35.3

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) [ 2 ]
  PHACTR4/RCC1 (1p35)
TRNAU1AP/PHACTR4 (1p35)


External links

Nomenclature
HGNC (Hugo)PHACTR4   25793
Cards
Entrez_Gene (NCBI)PHACTR4  65979  phosphatase and actin regulator 4
AliasesPPP1R124
GeneCards (Weizmann)PHACTR4
Ensembl hg19 (Hinxton)ENSG00000204138 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204138 [Gene_View]  ENSG00000204138 [Sequence]  chr1:28438150-28500369 [Contig_View]  PHACTR4 [Vega]
ICGC DataPortalENSG00000204138
TCGA cBioPortalPHACTR4
AceView (NCBI)PHACTR4
Genatlas (Paris)PHACTR4
WikiGenes65979
SOURCE (Princeton)PHACTR4
Genetics Home Reference (NIH)PHACTR4
Genomic and cartography
GoldenPath hg38 (UCSC)PHACTR4  -     chr1:28438150-28500369 +  1p35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHACTR4  -     1p35.3   [Description]    (hg19-Feb_2009)
EnsemblPHACTR4 - 1p35.3 [CytoView hg19]  PHACTR4 - 1p35.3 [CytoView hg38]
Mapping of homologs : NCBIPHACTR4 [Mapview hg19]  PHACTR4 [Mapview hg38]
OMIM608726   
Gene and transcription
Genbank (Entrez)AA973468 AF130081 AK023233 AK024663 AK025436
RefSeq transcript (Entrez)NM_001048183 NM_001350158 NM_001350159 NM_001350160 NM_001350161 NM_023923
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHACTR4
Cluster EST : UnigeneHs.225641 [ NCBI ]
CGAP (NCI)Hs.225641
Alternative Splicing GalleryENSG00000204138
Gene ExpressionPHACTR4 [ NCBI-GEO ]   PHACTR4 [ EBI - ARRAY_EXPRESS ]   PHACTR4 [ SEEK ]   PHACTR4 [ MEM ]
Gene Expression Viewer (FireBrowse)PHACTR4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65979
GTEX Portal (Tissue expression)PHACTR4
Human Protein AtlasENSG00000204138-PHACTR4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IZ21   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IZ21  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IZ21
Splice isoforms : SwissVarQ8IZ21
PhosPhoSitePlusQ8IZ21
Domaine pattern : Prosite (Expaxy)RPEL (PS51073)   
Domains : Interpro (EBI)Phactr4    RPEL_repeat   
Domain families : Pfam (Sanger)RPEL (PF02755)   
Domain families : Pfam (NCBI)pfam02755   
Domain families : Smart (EMBL)RPEL (SM00707)  
Conserved Domain (NCBI)PHACTR4
DMDM Disease mutations65979
Blocks (Seattle)PHACTR4
SuperfamilyQ8IZ21
Human Protein Atlas [tissue]ENSG00000204138-PHACTR4 [tissue]
Peptide AtlasQ8IZ21
HPRD07816
IPIIPI00217851   IPI00657967   IPI00845221   IPI00432436   IPI00970935   
Protein Interaction databases
DIP (DOE-UCLA)Q8IZ21
IntAct (EBI)Q8IZ21
FunCoupENSG00000204138
BioGRIDPHACTR4
STRING (EMBL)PHACTR4
ZODIACPHACTR4
Ontologies - Pathways
QuickGOQ8IZ21
Ontology : AmiGOneural crest cell migration  neural tube closure  actin binding  cytoplasm  Rho protein signal transduction  protein phosphatase 1 binding  lamellipodium  actin cytoskeleton organization  positive regulation of catalytic activity  regulation of phosphoprotein phosphatase activity  enteric nervous system development  regulation of cell cycle  closure of optic fissure  protein phosphatase activator activity  negative regulation of integrin-mediated signaling pathway  
Ontology : EGO-EBIneural crest cell migration  neural tube closure  actin binding  cytoplasm  Rho protein signal transduction  protein phosphatase 1 binding  lamellipodium  actin cytoskeleton organization  positive regulation of catalytic activity  regulation of phosphoprotein phosphatase activity  enteric nervous system development  regulation of cell cycle  closure of optic fissure  protein phosphatase activator activity  negative regulation of integrin-mediated signaling pathway  
NDEx NetworkPHACTR4
Atlas of Cancer Signalling NetworkPHACTR4
Wikipedia pathwaysPHACTR4
Orthology - Evolution
OrthoDB65979
GeneTree (enSembl)ENSG00000204138
Phylogenetic Trees/Animal Genes : TreeFamPHACTR4
HOVERGENQ8IZ21
HOGENOMQ8IZ21
Homologs : HomoloGenePHACTR4
Homology/Alignments : Family Browser (UCSC)PHACTR4
Gene fusions - Rearrangements
Fusion : MitelmanPHACTR4/RCC1 [1p35.3/1p35.3]  
Fusion : MitelmanTRNAU1AP/PHACTR4 [1p35.3/1p35.3]  [t(1;1)(p35;p35)]  
Fusion PortalTRNAU1AP 1p35.3 PHACTR4 1p35.3 BRCA
Fusion : QuiverPHACTR4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHACTR4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHACTR4
dbVarPHACTR4
ClinVarPHACTR4
1000_GenomesPHACTR4 
Exome Variant ServerPHACTR4
ExAC (Exome Aggregation Consortium)ENSG00000204138
GNOMAD BrowserENSG00000204138
Varsome BrowserPHACTR4
Genetic variants : HAPMAP65979
Genomic Variants (DGV)PHACTR4 [DGVbeta]
DECIPHERPHACTR4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHACTR4 
Mutations
ICGC Data PortalPHACTR4 
TCGA Data PortalPHACTR4 
Broad Tumor PortalPHACTR4
OASIS PortalPHACTR4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHACTR4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHACTR4
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 PHACTR4
DgiDB (Drug Gene Interaction Database)PHACTR4
DoCM (Curated mutations)PHACTR4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHACTR4 (select a term)
intoGenPHACTR4
Cancer3DPHACTR4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608726   
Orphanet
DisGeNETPHACTR4
MedgenPHACTR4
Genetic Testing Registry PHACTR4
NextProtQ8IZ21 [Medical]
TSGene65979
GENETestsPHACTR4
Target ValidationPHACTR4
Huge Navigator PHACTR4 [HugePedia]
snp3D : Map Gene to Disease65979
BioCentury BCIQPHACTR4
ClinGenPHACTR4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD65979
Chemical/Pharm GKB GenePA134959472
Clinical trialPHACTR4
Miscellaneous
canSAR (ICR)PHACTR4 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHACTR4
EVEXPHACTR4
GoPubMedPHACTR4
iHOPPHACTR4
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 : Mon Aug 27 11:43:52 CEST 2018

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