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PPP1R9A (protein phosphatase 1 regulatory subunit 9A)

Identity

Alias_namesprotein phosphatase 1, regulatory (inhibitor) subunit 9A
protein phosphatase 1, regulatory subunit 9A
Alias_symbol (synonym)Neurabin-I
KIAA1222
FLJ20068
Other aliasNRB1
NRBI
HGNC (Hugo) PPP1R9A
LocusID (NCBI) 55607
Atlas_Id 41812
Location 7q21.3  [Link to chromosome band 7q21]
Location_base_pair Starts at 94536949 and ends at 94925727 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PPP1R9A (7q21.3) / MDM4 (1q32.1)PPP1R9A (7q21.3) / PPP1R9A (7q21.3)PPP1R9A (7q21.3) / XRCC2 (7q36.1)
WBSCR17 (7q11.22) / PPP1R9A (7q21.3)WBSCR17 7q11.22 / PPP1R9A 7q21.3

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  i(7)(q10)


External links

Nomenclature
HGNC (Hugo)PPP1R9A   14946
Cards
Entrez_Gene (NCBI)PPP1R9A  55607  protein phosphatase 1 regulatory subunit 9A
AliasesNRB1; NRBI; Neurabin-I
GeneCards (Weizmann)PPP1R9A
Ensembl hg19 (Hinxton)ENSG00000158528 [Gene_View]  chr7:94536949-94925727 [Contig_View]  PPP1R9A [Vega]
Ensembl hg38 (Hinxton)ENSG00000158528 [Gene_View]  chr7:94536949-94925727 [Contig_View]  PPP1R9A [Vega]
ICGC DataPortalENSG00000158528
TCGA cBioPortalPPP1R9A
AceView (NCBI)PPP1R9A
Genatlas (Paris)PPP1R9A
WikiGenes55607
SOURCE (Princeton)PPP1R9A
Genetics Home Reference (NIH)PPP1R9A
Genomic and cartography
GoldenPath hg19 (UCSC)PPP1R9A  -     chr7:94536949-94925727 +  7q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PPP1R9A  -     7q21.3   [Description]    (hg38-Dec_2013)
EnsemblPPP1R9A - 7q21.3 [CytoView hg19]  PPP1R9A - 7q21.3 [CytoView hg38]
Mapping of homologs : NCBIPPP1R9A [Mapview hg19]  PPP1R9A [Mapview hg38]
OMIM602468   
Gene and transcription
Genbank (Entrez)AB033048 AK000075 AK096514 AK225204 BC037849
RefSeq transcript (Entrez)NM_001166160 NM_001166161 NM_001166162 NM_001166163 NM_017650
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_015803 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)PPP1R9A
Cluster EST : UnigeneHs.21816 [ NCBI ]
CGAP (NCI)Hs.21816
Alternative Splicing GalleryENSG00000158528
Gene ExpressionPPP1R9A [ NCBI-GEO ]   PPP1R9A [ EBI - ARRAY_EXPRESS ]   PPP1R9A [ SEEK ]   PPP1R9A [ MEM ]
Gene Expression Viewer (FireBrowse)PPP1R9A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55607
GTEX Portal (Tissue expression)PPP1R9A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULJ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULJ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULJ8
Splice isoforms : SwissVarQ9ULJ8
PhosPhoSitePlusQ9ULJ8
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)    SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)Neurabin-1    PDZ    SAM    SAM/pointed   
Domain families : Pfam (Sanger)PDZ (PF00595)    SAM_2 (PF07647)   
Domain families : Pfam (NCBI)pfam00595    pfam07647   
Domain families : Smart (EMBL)PDZ (SM00228)  SAM (SM00454)  
Conserved Domain (NCBI)PPP1R9A
DMDM Disease mutations55607
Blocks (Seattle)PPP1R9A
PDB (SRS)1WF8   
PDB (PDBSum)1WF8   
PDB (IMB)1WF8   
PDB (RSDB)1WF8   
Structural Biology KnowledgeBase1WF8   
SCOP (Structural Classification of Proteins)1WF8   
CATH (Classification of proteins structures)1WF8   
SuperfamilyQ9ULJ8
Human Protein AtlasENSG00000158528
Peptide AtlasQ9ULJ8
IPIIPI00008144   IPI00215793   IPI00924585   IPI00927107   IPI00896452   IPI00927869   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULJ8
IntAct (EBI)Q9ULJ8
FunCoupENSG00000158528
BioGRIDPPP1R9A
STRING (EMBL)PPP1R9A
ZODIACPPP1R9A
Ontologies - Pathways
QuickGOQ9ULJ8
Ontology : AmiGOprotein binding  cytoplasm  cytosol  actin filament organization  aging  protein C-terminus binding  protein phosphatase 1 binding  postsynaptic density  actin cytoskeleton  calcium-mediated signaling  protein kinase binding  protein domain specific binding  cell junction  filopodium  dendrite  regulation of actin filament polymerization  cortical actin cytoskeleton  neuron projection development  neuromuscular junction  protein homodimerization activity  neuronal cell body  ion channel binding  dendritic spine neck  positive regulation of protein kinase activity  actin filament binding  GTPase binding  regulation of filopodium assembly  negative regulation of stress fiber assembly  regulation of synapse structural plasticity  regulation of synapse assembly  excitatory postsynaptic potential  positive regulation of dendritic spine development  regulation of dendritic spine morphogenesis  cellular response to toxic substance  negative regulation of long-term synaptic potentiation  positive regulation of long term synaptic depression  negative regulation of spontaneous neurotransmitter secretion  growth cone lamellipodium  
Ontology : EGO-EBIprotein binding  cytoplasm  cytosol  actin filament organization  aging  protein C-terminus binding  protein phosphatase 1 binding  postsynaptic density  actin cytoskeleton  calcium-mediated signaling  protein kinase binding  protein domain specific binding  cell junction  filopodium  dendrite  regulation of actin filament polymerization  cortical actin cytoskeleton  neuron projection development  neuromuscular junction  protein homodimerization activity  neuronal cell body  ion channel binding  dendritic spine neck  positive regulation of protein kinase activity  actin filament binding  GTPase binding  regulation of filopodium assembly  negative regulation of stress fiber assembly  regulation of synapse structural plasticity  regulation of synapse assembly  excitatory postsynaptic potential  positive regulation of dendritic spine development  regulation of dendritic spine morphogenesis  cellular response to toxic substance  negative regulation of long-term synaptic potentiation  positive regulation of long term synaptic depression  negative regulation of spontaneous neurotransmitter secretion  growth cone lamellipodium  
NDEx NetworkPPP1R9A
Atlas of Cancer Signalling NetworkPPP1R9A
Wikipedia pathwaysPPP1R9A
Orthology - Evolution
OrthoDB55607
GeneTree (enSembl)ENSG00000158528
Phylogenetic Trees/Animal Genes : TreeFamPPP1R9A
HOVERGENQ9ULJ8
HOGENOMQ9ULJ8
Homologs : HomoloGenePPP1R9A
Homology/Alignments : Family Browser (UCSC)PPP1R9A
Gene fusions - Rearrangements
Fusion : MitelmanWBSCR17/PPP1R9A [7q11.22/7q21.3]  [t(7;7)(q11;q21)]  
Fusion: TCGAWBSCR17 7q11.22 PPP1R9A 7q21.3 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPP1R9A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPP1R9A
dbVarPPP1R9A
ClinVarPPP1R9A
1000_GenomesPPP1R9A 
Exome Variant ServerPPP1R9A
ExAC (Exome Aggregation Consortium)PPP1R9A (select the gene name)
Genetic variants : HAPMAP55607
Genomic Variants (DGV)PPP1R9A [DGVbeta]
DECIPHER (Syndromes)7:94536949-94925727  ENSG00000158528
CONAN: Copy Number AnalysisPPP1R9A 
Mutations
ICGC Data PortalPPP1R9A 
TCGA Data PortalPPP1R9A 
Broad Tumor PortalPPP1R9A
OASIS PortalPPP1R9A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPP1R9A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPP1R9A
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 PPP1R9A
DgiDB (Drug Gene Interaction Database)PPP1R9A
DoCM (Curated mutations)PPP1R9A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPP1R9A (select a term)
intoGenPPP1R9A
Cancer3DPPP1R9A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602468   
Orphanet
MedgenPPP1R9A
Genetic Testing Registry PPP1R9A
NextProtQ9ULJ8 [Medical]
TSGene55607
GENETestsPPP1R9A
Huge Navigator PPP1R9A [HugePedia]
snp3D : Map Gene to Disease55607
BioCentury BCIQPPP1R9A
ClinGenPPP1R9A (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55607
Chemical/Pharm GKB GenePA33661
Clinical trialPPP1R9A
Miscellaneous
canSAR (ICR)PPP1R9A (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPP1R9A
EVEXPPP1R9A
GoPubMedPPP1R9A
iHOPPPP1R9A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:22:35 CET 2017

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