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PPEF1 (protein phosphatase with EF-hand domain 1)

Identity

Alias_namescatalytic subunit
alpha isozyme
Alias_symbol (synonym)PPP7CA
Other aliasPP7
PPEF
PPP7C
HGNC (Hugo) PPEF1
LocusID (NCBI) 5475
Atlas_Id 41796
Location Xp22.13  [Link to chromosome band Xp22]
Location_base_pair Starts at 18690926 and ends at 18827916 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)
PPEF1 (Xp22.13) / PPEF1 (Xp22.13)

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)PPEF1   9243
Cards
Entrez_Gene (NCBI)PPEF1  5475  protein phosphatase with EF-hand domain 1
AliasesPP7; PPEF; PPP7C; PPP7CA
GeneCards (Weizmann)PPEF1
Ensembl hg19 (Hinxton)ENSG00000086717 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000086717 [Gene_View]  chrX:18690926-18827916 [Contig_View]  PPEF1 [Vega]
ICGC DataPortalENSG00000086717
TCGA cBioPortalPPEF1
AceView (NCBI)PPEF1
Genatlas (Paris)PPEF1
WikiGenes5475
SOURCE (Princeton)PPEF1
Genetics Home Reference (NIH)PPEF1
Genomic and cartography
GoldenPath hg38 (UCSC)PPEF1  -     chrX:18690926-18827916 +  Xp22.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPEF1  -     Xp22.13   [Description]    (hg19-Feb_2009)
EnsemblPPEF1 - Xp22.13 [CytoView hg19]  PPEF1 - Xp22.13 [CytoView hg38]
Mapping of homologs : NCBIPPEF1 [Mapview hg19]  PPEF1 [Mapview hg38]
OMIM300109   
Gene and transcription
Genbank (Entrez)AF023455 AF027977 AK290463 AK292235 AK295504
RefSeq transcript (Entrez)NM_006240 NM_152223 NM_152224 NM_152225 NM_152226
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PPEF1
Cluster EST : UnigeneHs.211589 [ NCBI ]
CGAP (NCI)Hs.211589
Alternative Splicing GalleryENSG00000086717
Gene ExpressionPPEF1 [ NCBI-GEO ]   PPEF1 [ EBI - ARRAY_EXPRESS ]   PPEF1 [ SEEK ]   PPEF1 [ MEM ]
Gene Expression Viewer (FireBrowse)PPEF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5475
GTEX Portal (Tissue expression)PPEF1
Human Protein AtlasENSG00000086717-PPEF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14829   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14829  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14829
Splice isoforms : SwissVarO14829
Catalytic activity : Enzyme3.1.3.16 [ Enzyme-Expasy ]   3.1.3.163.1.3.16 [ IntEnz-EBI ]   3.1.3.16 [ BRENDA ]   3.1.3.16 [ KEGG ]   
PhosPhoSitePlusO14829
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    IQ (PS50096)    SER_THR_PHOSPHATASE (PS00125)   
Domains : Interpro (EBI)Calcineurin-like_PHP_ApaH    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    IQ_motif_EF-hand-BS    Metallo-depent_PP-like    PPP_dom    Ser/Thr-Pase_EF-hand_contain    Ser/Thr-sp_prot-phosphatase   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)    IQ (PF00612)    Metallophos (PF00149)    PPP5 (PF08321)   
Domain families : Pfam (NCBI)pfam13499    pfam00612    pfam00149    pfam08321   
Domain families : Smart (EMBL)EFh (SM00054)  IQ (SM00015)  PP2Ac (SM00156)  
Conserved Domain (NCBI)PPEF1
DMDM Disease mutations5475
Blocks (Seattle)PPEF1
SuperfamilyO14829
Human Protein Atlas [tissue]ENSG00000086717-PPEF1 [tissue]
Peptide AtlasO14829
HPRD02118
IPIIPI00513950   IPI00221149   IPI00221150   IPI00221151   IPI01012285   IPI00514326   IPI00946290   IPI00946807   
Protein Interaction databases
DIP (DOE-UCLA)O14829
IntAct (EBI)O14829
FunCoupENSG00000086717
BioGRIDPPEF1
STRING (EMBL)PPEF1
ZODIACPPEF1
Ontologies - Pathways
QuickGOO14829
Ontology : AmiGOprotein serine/threonine phosphatase activity  iron ion binding  calcium ion binding  protein binding  cytosol  protein dephosphorylation  regulation of rhodopsin mediated signaling pathway  manganese ion binding  detection of stimulus involved in sensory perception  
Ontology : EGO-EBIprotein serine/threonine phosphatase activity  iron ion binding  calcium ion binding  protein binding  cytosol  protein dephosphorylation  regulation of rhodopsin mediated signaling pathway  manganese ion binding  detection of stimulus involved in sensory perception  
NDEx NetworkPPEF1
Atlas of Cancer Signalling NetworkPPEF1
Wikipedia pathwaysPPEF1
Orthology - Evolution
OrthoDB5475
GeneTree (enSembl)ENSG00000086717
Phylogenetic Trees/Animal Genes : TreeFamPPEF1
HOVERGENO14829
HOGENOMO14829
Homologs : HomoloGenePPEF1
Homology/Alignments : Family Browser (UCSC)PPEF1
Gene fusions - Rearrangements
Tumor Fusion PortalPPEF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPEF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPEF1
dbVarPPEF1
ClinVarPPEF1
1000_GenomesPPEF1 
Exome Variant ServerPPEF1
ExAC (Exome Aggregation Consortium)ENSG00000086717
GNOMAD BrowserENSG00000086717
Genetic variants : HAPMAP5475
Genomic Variants (DGV)PPEF1 [DGVbeta]
DECIPHERPPEF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPEF1 
Mutations
ICGC Data PortalPPEF1 
TCGA Data PortalPPEF1 
Broad Tumor PortalPPEF1
OASIS PortalPPEF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPEF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPEF1
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch PPEF1
DgiDB (Drug Gene Interaction Database)PPEF1
DoCM (Curated mutations)PPEF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPEF1 (select a term)
intoGenPPEF1
Cancer3DPPEF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300109   
Orphanet
DisGeNETPPEF1
MedgenPPEF1
Genetic Testing Registry PPEF1
NextProtO14829 [Medical]
TSGene5475
GENETestsPPEF1
Target ValidationPPEF1
Huge Navigator PPEF1 [HugePedia]
snp3D : Map Gene to Disease5475
BioCentury BCIQPPEF1
ClinGenPPEF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5475
Chemical/Pharm GKB GenePA33564
Clinical trialPPEF1
Miscellaneous
canSAR (ICR)PPEF1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPEF1
EVEXPPEF1
GoPubMedPPEF1
iHOPPPEF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Nov 21 14:29:46 CET 2017

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