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PPEF1 (protein phosphatase, EF-hand calcium binding domain 1)

Identity

Other namesPP7
PPEF
PPP7C
PPP7CA
HGNC (Hugo) PPEF1
LocusID (NCBI) 5475
Location Xp22.13
Location_base_pair Starts at 18709045 and ends at 18846034 bp from pter ( according to hg19-Feb_2009)
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
Entrez_Gene (NCBI)PPEF1  5475  protein phosphatase, EF-hand calcium binding domain 1
Cards
GeneCards (Weizmann)PPEF1
Ensembl (Hinxton)ENSG00000086717 [Gene_View]  chrX:18709045-18846034 [Contig_View]  PPEF1 [Vega]
AceView (NCBI)PPEF1
Genatlas (Paris)PPEF1
SOURCE (Stanford)NM_006240 NM_152223 NM_152224 NM_152225 NM_152226
Genomic and cartography
GoldenPath (UCSC)PPEF1  -  Xp22.13   chrX:18709045-18846034 +  Xp22.13   [Description]    (hg19-Feb_2009)
EnsemblPPEF1 - Xp22.13 [CytoView]
Mapping of homologs : NCBIPPEF1 [Mapview]
OMIM300109   
Gene and transcription
Genbank (Entrez)AF023455 AF027977 AK290463 AK292235 AK295504
RefSeq transcript (SRS)NM_006240 NM_152223 NM_152224 NM_152225 NM_152226
RefSeq transcript (Entrez)NM_006240 NM_152223 NM_152224 NM_152225 NM_152226
RefSeq genomic (SRS)AC_000155 NC_000023 NC_018934 NG_012519 NT_167197 NW_001842360 NW_004078118
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_012519 NT_167197 NW_001842360 NW_004078118
Consensus coding sequences : CCDS (NCBI)PPEF1
Cluster EST : UnigeneHs.211589 [ SRS ] Hs.211589 [ NCBI ]
CGAP (NCI)Hs.211589
Alternative Splicing : Fast-db (Paris)GSHG0031410
Alternative Splicing GalleryENSG00000086717
Gene ExpressionPPEF1 [ NCBI-GEO ]   PPEF1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14829 (SRS) O14829 (Uniprot)
NextProtO14829
With graphics : InterProO14829
Splice isoforms : SwissVarO14829(Swissvar)
Domaine pattern : Prosite (SRS)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    IQ (PS50096)    SER_THR_PHOSPHATASE (PS00125)   
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    IQ (PS50096)    SER_THR_PHOSPHATASE (PS00125)   
Domains : Interpro (SRS)EF-hand-like_dom    EF_Hand_1_Ca_BS    EF_hand_dom    IQ_motif_EF-hand-BS    Metallo_PEstase_dom    PPP_dom    Ser/Thr-Pase_EF-hand_contain    Ser/Thr-sp_prot-phosphatase   
Domains : Interpro (EBI)EF-hand-like_dom    EF_Hand_1_Ca_BS    EF_hand_dom    IQ_motif_EF-hand-BS    Metallo_PEstase_dom    PPP_dom    Ser/Thr-Pase_EF-hand_contain    Ser/Thr-sp_prot-phosphatase   
Related proteins : CluSTrO14829
Domain families : Pfam (SRS)efhand (PF00036)    IQ (PF00612)    Metallophos (PF00149)    PPP5 (PF08321)   
Domain families : Pfam (Sanger)efhand (PF00036)    IQ (PF00612)    Metallophos (PF00149)    PPP5 (PF08321)   
Domain families : Pfam (NCBI)pfam00036    pfam00612    pfam00149    pfam08321   
Domain families : Smart (EMBL)EFh (SM00054)  IQ (SM00015)  PP2Ac (SM00156)  
DMDM5475
Blocks (Seattle)O14829
Human Protein AtlasENSG00000086717
HPRD02118
IPIIPI00513950   IPI00221149   IPI00221150   IPI00221151   IPI01012285   IPI00514326   IPI00946290   IPI00946807   
Protein Interaction databases
DIP (DOE-UCLA)O14829
IntAct (EBI)O14829
FunCoupENSG00000086717
REACTOMEPPEF1
Protein Interaction Database5475
BioGRIDPPEF1
InParanoidO14829
Interologous Interaction database O14829
IntegromeDBPPEF1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PPEF1
SNP (GeneSNP Utah)PPEF1
SNP : HGBasePPEF1
Genetic variants : HAPMAPPPEF1
Somatic Mutations in Cancer : COSMICPPEF1 
CONAN: Copy Number AnalysisPPEF1 
Mutations and Diseases : HGMDPPEF1
OMIM300109   
GENETests300109   
Disease Genetic AssociationPPEF1
Huge Navigator PPEF1 [HugePedia]  PPEF1 [HugeCancerGEM]
Genomic VariantsPPEF1  PPEF1 [DGVbeta]
ClinVarPPEF1
snp3D : Map Gene to Disease5475
General knowledge
Homologs : HomoloGenePPEF1
Homology/Alignments : Family Browser (UCSC)PPEF1
Phylogenetic Trees/Animal Genes : TreeFamPPEF1
Catalytic activity : Enzyme3.1.3.16 [ Enzyme-Expasy ]   3.1.3.16 [ Enzyme-SRS ]   3.1.3.16 [ IntEnz-EBI ]   3.1.3.16 [ BRENDA ]   3.1.3.16 [ KEGG ]   
Chemical/Protein Interactions : CTD5475
Chemical/Pharm GKB GenePA33564
Clinical trialPPEF1
Cancer Resource (Charite)ENSG00000086717
Ontology : AmiGOprotein serine/threonine phosphatase activity  iron ion binding  calcium ion binding  protein binding  protein dephosphorylation  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  protein dephosphorylation  manganese ion binding  detection of stimulus involved in sensory perception  
Other databases
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
PubGenePPEF1
iHOPPPEF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 14 18:00:33 CEST 2013

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