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PPEF1 Gene

protein-coding   GIFtS: 59
GCID: GC0XP018694

Protein Phosphatase, EF-Hand Calcium Binding Domain 1


(Previous symbol: PPEF)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protein Phosphatase, EF-Hand Calcium Binding Domain 11 2     Catalytic Subunit1
PPEF1 2 3     Protein Phosphatase 71
Protein Phosphatase With EF Calcium-Binding Domain2 3     PPP7CA2
Serine/Threonine-Protein Phosphatase 72 3     Protein Phosphatase 7, Catalytic Subunit, Alpha Isozyme2
PP72 3     Protein Phosphatase, Serine/Threonine Type, With EF-Hands2
PPP7C2 3     Serine/Threonine Protein Phosphatase 72
EC 3.1.3.163 8     Serine/Threonine-Protein Phosphatase With EF-Hands 12
Alpha Isozyme1     PPEF-13

External Ids:    HGNC: 92431   Entrez Gene: 54752   Ensembl: ENSG000000867177   OMIM: 3001095   UniProtKB: O148293   

Export aliases for PPEF1 gene to outside databases

Previous GC identifers: GC0XP018253 GC0XP017375 GC0XP017911 GC0XP018070 GC0XP018468 GC0XP018618 GC0XP016462


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PPEF1 Gene:
This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein
contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C
terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific
sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal
degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform,
have been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for PPEF1 Gene:
PPEF1 (protein phosphatase, EF-hand calcium binding domain 1) is a protein-coding gene. Diseases associated with PPEF1 include x-linked juvenile retinoschisis, and retinoschisis. GO annotations related to this gene include protein serine/threonine phosphatase activity and calcium ion binding. An important paralog of this gene is PPEF2.

UniProtKB/Swiss-Prot: PPE1_HUMAN, O14829
Function: May have a role in the recovery or adaptation response of photoreceptors. May have a role in development

Gene Wiki entry for PPEF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PPEF1 gene promoter:
         GCNF   CREB   RORalpha1   PPAR-gamma1   deltaCREB   GCNF-1   PPAR-gamma2   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPEF1 promoter sequence
   Search Chromatin IP Primers for PPEF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PPEF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22   Ensembl cytogenetic band:  Xp22.13   HGNC cytogenetic band: Xp22

PPEF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPEF1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP018694:  view genomic region     (about GC identifiers)

Start:
18,694,029 bp from pter      End:
18,846,039 bp from pter
Size:
152,011 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PPE1_HUMAN, O14829 (See protein sequence)
Recommended Name: Serine/threonine-protein phosphatase with EF-hands 1  
Size: 653 amino acids; 75792 Da
Cofactor: Binds 1 iron ion per subunit (By similarity)
Cofactor: Binds 1 manganese ion per subunit (By similarity)
Cofactor: Magnesium (By similarity)
Secondary accessions: A6NHP4 A8K348 O15253 Q9NU21 Q9UJH0
Alternative splicing: 5 isoforms:  O14829-1   O14829-2   O14829-3   O14829-4   O14829-5   (May have no functional significance)

Explore the universe of human proteins at neXtProt for PPEF1: NX_O14829

Explore proteomics data for PPEF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PPEF1 (O14829) (see all 5)
     GDFVDRG  NLRYGFTKE  IFYKNGLPS  CGDLHGKLDDL 


    See PPEF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_006231.2  NP_689410.1  NP_689412.1  

    ENSEMBL proteins: 
     ENSP00000354871   ENSP00000419948   ENSP00000418623   ENSP00000419273   ENSP00000352806  
     ENSP00000341892   ENSP00000437785   ENSP00000441289  
    Reactome Protein details: O14829

    PPEF1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing
    PPP: Serine/threonine phosphatases / Protein phosphatase, catalytic subunits

    Selected InterPro protein domains (see all 8):
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR013235 PPP_dom
     IPR012008 Ser/Thr-Pase_EF-hand_contain
     IPR004843 PEstase_dom

    Graphical View of Domain Structure for InterPro Entry O14829

    ProtoNet protein and cluster: O14829

    2 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB006186 Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase


    UniProtKB/Swiss-Prot: PPE1_HUMAN, O14829
    Similarity: Belongs to the PPP phosphatase family
    Similarity: Contains 3 EF-hand domains
    Similarity: Contains 1 IQ domain


    PPEF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PPE1_HUMAN, O14829
    Function: May have a role in the recovery or adaptation response of photoreceptors. May have a role in development
    Catalytic activity: [a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate
    Enzyme regulation: Activated by calcium
    Biophysicochemical properties: pH dependence: Optimum pH is 8.0;

         Genatlas biochemistry entry for PPEF1:
    serine-threonine phosphatase with two alternatively spliced forms,expressed in sensory neurons of neural crest
    origin,homologous to Drosophila retinal degeneration C (rdgc)

         Enzyme Number (IUBMB): EC 3.1.3.161 2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004721phosphoprotein phosphatase activity ----
    GO:0004722protein serine/threonine phosphatase activity TAS--
    GO:0005506iron ion binding IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI12051765
         
    PPEF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PPEF1:
     Decreased viability 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ppef1):
     normal  vision/eye 

    PPEF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ppef1tm1Nat for PPEF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PPEF1
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    hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmidPPEF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PPEF1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    mitochondrion3
    cytoskeleton2
    nucleus2
    endoplasmic reticulum1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    PPEF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PPEF1 About    
    See pathways by source

    SuperPathContained pathways About
    1The phototransduction cascade
    The phototransduction cascade0.51
    Inactivation, recovery and regulation of the phototransduction cascade0.49
    2Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    3Signaling by GPCR
    Signal Transduction0.58
    4Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PPEF1
        Inactivation, recovery and regulation of the phototransduction cascade



    PPEF1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PPEF1: 
              Protein Phosphatases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PPEF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PPEF1 (O148291, 3 ENSP000003548714) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=4 STRING: ENSP00000349467
    CALM2P621583, ENSP000002722984I2D: score=4 STRING: ENSP00000272298
    CALM3P621583, ENSP000002912954I2D: score=4 STRING: ENSP00000291295
    TP53ENSP000002693054STRING: ENSP00000269305
    HDAC3ENSP000003029674STRING: ENSP00000302967
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation TAS9215685
    GO:0007603phototransduction, visible light TAS--
    GO:0016056rhodopsin mediated signaling pathway TAS--
    GO:0022400regulation of rhodopsin mediated signaling pathway TAS--
    GO:0050906detection of stimulus involved in sensory perception IEA--

    PPEF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for PPEF1 (PPE1)

    6 HMDB Compounds for PPEF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    IronArmco iron (see all 19)7439-89-6--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 Novoseek inferred chemical compound relationships for PPEF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 54.8 1 10736728 (1)
    serine 42.5 1 10736728 (1)



    PPEF1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PPEF1 gene (5 alternative transcripts): 
    NM_006240.2  NM_152224.1  NM_152226.1  NM_152223.1  NM_152225.1  

    Unigene Cluster for PPEF1:

    Protein phosphatase, EF-hand calcium binding domain 1
    Hs.211589  [show with all ESTs]
    Unigene Representative Sequence: BC036026
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486029 ENST00000361511(uc004cyp.3 uc004cyq.3 uc004cyr.3 uc004cys.3 uc011mja.2 uc011mjb.2)
    ENST00000471570 ENST00000496616 ENST00000472826 ENST00000496075 ENST00000379962
    ENST00000470157 ENST00000359763 ENST00000349874 ENST00000543630 ENST00000544635

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate PPEF1:
    hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmidPPEF1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF023455.1 AK290463.1 AK292235.1 AK295504.1 AK300815.1 AK315809.1 BC036026.1 X97867.1 

    5 DOTS entries:

    DT.456404  DT.100751834  DT.100021128  DT.95266645  DT.91864423 

    Selected AceView cDNA sequences (see all 38):

    AA621346 NM_152223 NM_152224 NM_152225 D44816 NM_152226 AF023455 AA452634 
    AA450013 NM_006240 BC036026 BI913019 BF432013 BE546038 BX477659 BI560122 
    BI463706 BX460450 H08394 X97867 BF059728 R24824 AW181972 R11889 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PPEF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PPEF1 Expression
    About this image


    PPEF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             Spermatid Seminiferous Tubules
     
     Gonad
             Spermatid Seminiferous Tubules
    PPEF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PPEF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.211589

    UniProtKB/Swiss-Prot: PPE1_HUMAN, O14829
    Tissue specificity: Detected in retina and retinal derived Y-79 retinoblastoma cells. Also found in fetal brain

        Pathway & Disease-focused RT2 Profiler PCR Array including PPEF1: 
              Protein Phosphatases in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPEF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PPEF1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppef11 , 5 protein phosphatase with EF hand calcium-binding domain more1, 5 80.52(n)1
    71.09(a)1
      X (73.95 cM)5
    2371781  NM_011147.11  NP_035277.11 
     1606230945 
    chicken
    (Gallus gallus)
    Aves PPEF11 protein phosphatase, EF-hand calcium binding domain more 62.74(n)
    55(a)
      427999  XM_003640490.2  XP_003640538.2 
    lizard
    (Anolis carolinensis)
    Reptilia PPEF16
    protein phosphatase, EF-hand calcium binding domai...
    52(a)
    1 ↔ 1
    3(123076707-123139766)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ppef11 protein phosphatase, EF-hand calcium binding domain more 62.14(n)
    56.25(a)
      100496625  XM_002936047.2  XP_002936093.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ppef11 protein phosphatase, EF-hand calcium binding domain more 58.83(n)
    55.61(a)
      559132  NM_001114730.1  NP_001108202.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rdgC3 deactivation of rhodopsin mediated
    signaling calmodulin more
    39(a)   77B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea pef-11 pef-1 52.57(n)
    44.39(a)
      175257  NM_001267907.1  NP_001254836.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PPT16
    Protein serine/threonine phosphatase with similari...
    20(a)
    1 → many
    VII(736662-738203) YGR123C


    ENSEMBL Gene Tree for PPEF1 (if available)
    TreeFam Gene Tree for PPEF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PPEF1 gene
    PPEF22  PPP5C2  
    4 SIMAP similar genes for PPEF1 using alignment to 6 protein entries:     PPE1_HUMAN (see all proteins):
    PPEF2    PPP5C    PPP4C    PPP6C

    PPEF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PPEF1 (see all 2038)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1843740261,2
    --18620646(+) AAGTTC/TTTATT 3 -- us2k10--------
    rs1893102071,2
    --18620668(+) TGAAGC/GCTTCA 3 -- us2k10--------
    rs1822038431,2
    --18620747(+) ATACCA/GGAGAG 3 -- us2k10--------
    rs1121950721,2
    C,F--18620996(+) AAACGT/CCATCT 3 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs1875792451,2
    --18621423(+) TTTTAC/TGCAAA 3 -- us2k10--------
    rs172472431,2
    C,F,H--18621424(+) TTTACA/GCAAAT 3 -- us2k117Minor allele frequency- G:0.47NA NS EA 2080
    rs101267071,2
    C,F,H--18621644(+) ATTCAA/GCCTTC 3 -- us2k110Minor allele frequency- G:0.13NS NA CSA 1373
    rs101267121,2
    C,F--18621656(+) ACTGTG/CAGGTC 3 -- us2k1 tfbs31Minor allele frequency- C:0.00CSA 1
    rs1894368371,2
    --18621964(+) AAAGGA/CTTCTC 3 -- us2k10--------
    rs66536391,2
    C,H--18621978(+) GAACTC/TTTAGG 3 -- us2k18Minor allele frequency- T:0.00WA NA CSA 12

    HapMap Linkage Disequilibrium report for PPEF1 (18694029 - 18846039 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PPEF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33517CNV Loss17666407
    esv2752317CNV Gain17911159

    Locus Specific Mutation Databases (LSDB): PPEF1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300109    OMIM disorders: --

    7 diseases for PPEF1:    
    About MalaCards
    x-linked juvenile retinoschisis    retinoschisis    retinal degeneration    lymphoblastic lymphoma
    retinitis    retinoblastoma    neuronitis


    PPEF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PPEF1

    Export disorders for PPEF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PPEF1 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with PPEF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. (PubMed id 9215685)1, 2, 3, 9 Montini E.... Franco B. (Hum. Mol. Genet. 1997)
    2. Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C. (PubMed id 9326663)1, 2, 3 Sherman P.M....Nathans J. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    6. Molecular cloning, expression, and characterization of a novel human serine/threonine protein phosphatase, PP7, that is homologous to Drosophila retinal degeneration C gene product (rdgC). (PubMed id 9430683)1, 2 Huang X. and Honkanen R.E. (J. Biol. Chem. 1998)
    7. Molecular cloning of a novel PPEF-1 gene variant from a T-cell lymphoblastic lymphoma cell line. (PubMed id 22292511)1 Ho P....Chen H.L. (amp 2012)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    10. Protein Ser/Thr phosphatases PPEF interact with calmodulin. (PubMed id 12051765)1 Kutuzov M.A....Bennett N. (Biochem. Biophys. Res. Commun. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5475 HGNC: 9243 AceView: PPEF1 Ensembl:ENSG00000086717 euGenes: HUgn5475
    ECgene: PPEF1 H-InvDB: PPEF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PPEF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PPEF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PPEF1 gene:
    Search GeneIP for patents involving PPEF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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