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PPP6R1 (protein phosphatase 6 regulatory subunit 1)

Identity

Alias_namesKIAA1115
SAPS1
KIAA1115
SAPS domain family, member 1
protein phosphatase 6, regulatory subunit 1
Alias_symbol (synonym)SAP190
Other aliasPP6R1
HGNC (Hugo) PPP6R1
LocusID (NCBI) 22870
Atlas_Id 72158
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 55229779 and ends at 55258670 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)
EBI3 (19p13.3) / PPP6R1 (19q13.42)PPP1R12C (19q13.42) / PPP6R1 (19q13.42)PPP6R1 (19q13.42) / AURKC (19q13.43)
PPP6R1 (19q13.42) / IGSF21 (1p36.13)PPP6R1 (19q13.42) / SOHLH2 (13q13.3)PPP6R1 (19q13.42) / ZGLP1 (19p13.2)
RDH13 (19q13.42) / PPP6R1 (19q13.42)TBC1D17 (19q13.33) / PPP6R1 (19q13.42)PPP1R12C PPP6R1
RDH13 PPP6R1

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

 


External links

Nomenclature
HGNC (Hugo)PPP6R1   29195
Cards
Entrez_Gene (NCBI)PPP6R1  22870  protein phosphatase 6 regulatory subunit 1
AliasesKIAA1115; PP6R1; SAP190; SAPS1
GeneCards (Weizmann)PPP6R1
Ensembl hg19 (Hinxton)ENSG00000105063 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105063 [Gene_View]  chr19:55229779-55258670 [Contig_View]  PPP6R1 [Vega]
ICGC DataPortalENSG00000105063
TCGA cBioPortalPPP6R1
AceView (NCBI)PPP6R1
Genatlas (Paris)PPP6R1
WikiGenes22870
SOURCE (Princeton)PPP6R1
Genetics Home Reference (NIH)PPP6R1
Genomic and cartography
GoldenPath hg38 (UCSC)PPP6R1  -     chr19:55229779-55258670 -  19q13.42   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPP6R1  -     19q13.42   [Description]    (hg19-Feb_2009)
EnsemblPPP6R1 - 19q13.42 [CytoView hg19]  PPP6R1 - 19q13.42 [CytoView hg38]
Mapping of homologs : NCBIPPP6R1 [Mapview hg19]  PPP6R1 [Mapview hg38]
OMIM610875   
Gene and transcription
Genbank (Entrez)AB029038 AK126810 AK297152 AL544921 BC002799
RefSeq transcript (Entrez)NM_014931
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PPP6R1
Cluster EST : UnigeneHs.515610 [ NCBI ]
CGAP (NCI)Hs.515610
Alternative Splicing GalleryENSG00000105063
Gene ExpressionPPP6R1 [ NCBI-GEO ]   PPP6R1 [ EBI - ARRAY_EXPRESS ]   PPP6R1 [ SEEK ]   PPP6R1 [ MEM ]
Gene Expression Viewer (FireBrowse)PPP6R1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22870
GTEX Portal (Tissue expression)PPP6R1
Human Protein AtlasENSG00000105063-PPP6R1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPN7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UPN7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UPN7
Splice isoforms : SwissVarQ9UPN7
PhosPhoSitePlusQ9UPN7
Domains : Interpro (EBI)ARM-type_fold    SAPS   
Domain families : Pfam (Sanger)SAPS (PF04499)   
Domain families : Pfam (NCBI)pfam04499   
Conserved Domain (NCBI)PPP6R1
DMDM Disease mutations22870
Blocks (Seattle)PPP6R1
SuperfamilyQ9UPN7
Human Protein Atlas [tissue]ENSG00000105063-PPP6R1 [tissue]
Peptide AtlasQ9UPN7
HPRD17207
IPIIPI00873586   IPI00910203   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPN7
IntAct (EBI)Q9UPN7
FunCoupENSG00000105063
BioGRIDPPP6R1
STRING (EMBL)PPP6R1
ZODIACPPP6R1
Ontologies - Pathways
QuickGOQ9UPN7
Ontology : AmiGOGolgi membrane  protein binding  cytosol  cytosol  protein phosphatase binding  regulation of phosphoprotein phosphatase activity  COPII vesicle coating  
Ontology : EGO-EBIGolgi membrane  protein binding  cytosol  cytosol  protein phosphatase binding  regulation of phosphoprotein phosphatase activity  COPII vesicle coating  
NDEx NetworkPPP6R1
Atlas of Cancer Signalling NetworkPPP6R1
Wikipedia pathwaysPPP6R1
Orthology - Evolution
OrthoDB22870
GeneTree (enSembl)ENSG00000105063
Phylogenetic Trees/Animal Genes : TreeFamPPP6R1
HOVERGENQ9UPN7
HOGENOMQ9UPN7
Homologs : HomoloGenePPP6R1
Homology/Alignments : Family Browser (UCSC)PPP6R1
Gene fusions - Rearrangements
Fusion: TCGAPPP1R12C PPP6R1
Fusion: TCGARDH13 PPP6R1
Fusion: Tumor Portal PPP6R1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPP6R1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPP6R1
dbVarPPP6R1
ClinVarPPP6R1
1000_GenomesPPP6R1 
Exome Variant ServerPPP6R1
ExAC (Exome Aggregation Consortium)ENSG00000105063
GNOMAD BrowserENSG00000105063
Genetic variants : HAPMAP22870
Genomic Variants (DGV)PPP6R1 [DGVbeta]
DECIPHERPPP6R1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPP6R1 
Mutations
ICGC Data PortalPPP6R1 
TCGA Data PortalPPP6R1 
Broad Tumor PortalPPP6R1
OASIS PortalPPP6R1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPP6R1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPP6R1
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 PPP6R1
DgiDB (Drug Gene Interaction Database)PPP6R1
DoCM (Curated mutations)PPP6R1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPP6R1 (select a term)
intoGenPPP6R1
Cancer3DPPP6R1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610875   
Orphanet
MedgenPPP6R1
Genetic Testing Registry PPP6R1
NextProtQ9UPN7 [Medical]
TSGene22870
GENETestsPPP6R1
Target ValidationPPP6R1
Huge Navigator PPP6R1 [HugePedia]
snp3D : Map Gene to Disease22870
BioCentury BCIQPPP6R1
ClinGenPPP6R1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22870
Chemical/Pharm GKB GenePA165394108
Clinical trialPPP6R1
Miscellaneous
canSAR (ICR)PPP6R1 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPP6R1
EVEXPPP6R1
GoPubMedPPP6R1
iHOPPPP6R1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:23:24 CET 2017

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