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Aliases for PPEF1 Gene

Aliases for PPEF1 Gene

  • Protein Phosphatase, EF-Hand Calcium Binding Domain 1 2 3
  • Protein Phosphatase With EF Calcium-Binding Domain 3 4
  • Serine/Threonine-Protein Phosphatase 7 3 4
  • EC 3.1.3.16 4 63
  • PPP7C 3 4
  • PPEF 3 4
  • PP7 3 4
  • Protein Phosphatase, Serine/Threonine Type, With EF-Hands 3
  • Protein Phosphatase 7, Catalytic Subunit, Alpha Isozyme 3
  • Serine/Threonine Protein Phosphatase 7 3
  • Protein Phosphatase 7 2
  • Catalytic Subunit 2
  • Alpha Isozyme 2
  • PPP7CA 3
  • PPEF-1 4

External Ids for PPEF1 Gene

Previous HGNC Symbols for PPEF1 Gene

  • PPEF

Previous GeneCards Identifiers for PPEF1 Gene

  • GC0XP018253
  • GC0XP017375
  • GC0XP017911
  • GC0XP018070
  • GC0XP018468
  • GC0XP018618
  • GC0XP016462

Summaries for PPEF1 Gene

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 juvenile retinoschisis and x-linked juvenile retinoschisis. Among its related pathways are Signaling by GPCR and Visual phototransduction. GO annotations related to this gene include calcium ion binding and iron ion binding. An important paralog of this gene is PPEF2.

UniProtKB/Swiss-Prot for PPEF1 Gene

  • May have a role in the recovery or adaptation response of photoreceptors. May have a role in development

Gene Wiki entry for PPEF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPEF1 Gene

Genomics for PPEF1 Gene

Regulatory Elements for PPEF1 Gene

Genomic Location for PPEF1 Gene

Chromosome:
X
Start:
18,675,909 bp from pter
End:
18,827,921 bp from pter
Size:
152,013 bases
Orientation:
Plus strand

Genomic View for PPEF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PPEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPEF1 Gene

Proteins for PPEF1 Gene

  • Protein details for PPEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14829-PPE1_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase with EF-hands 1
    Protein Accession:
    O14829
    Secondary Accessions:
    • A6NHP4
    • A8K348
    • O15253
    • Q9NU21
    • Q9UJH0

    Protein attributes for PPEF1 Gene

    Size:
    653 amino acids
    Molecular mass:
    75792 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 2 manganese ions per subunit.;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PPEF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPEF1 Gene

Proteomics data for PPEF1 Gene at MOPED

Selected DME Specific Peptides for PPEF1 Gene

Post-translational modifications for PPEF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPEF1 Gene

Antibody Products

Domains & Families for PPEF1 Gene

Suggested Antigen Peptide Sequences for PPEF1 Gene

Graphical View of Domain Structure for InterPro Entry

O14829

UniProtKB/Swiss-Prot:

PPE1_HUMAN :
  • Contains 3 EF-hand domains.
  • Belongs to the PPP phosphatase family.
Domain:
  • Contains 3 EF-hand domains.
  • Contains 1 IQ domain.
Family:
  • Belongs to the PPP phosphatase family.
genes like me logo Genes that share domains with PPEF1: view

Function for PPEF1 Gene

Molecular function for PPEF1 Gene

GENATLAS Biochemistry:
serine-threonine phosphatase with two alternatively spliced forms,expressed in sensory neurons of neural crest origin,homologous to Drosophila retinal degeneration C (rdgc)
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 8.0.;
UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by calcium
UniProtKB/Swiss-Prot Function:
May have a role in the recovery or adaptation response of photoreceptors. May have a role in development

Enzyme Numbers (IUBMB) for PPEF1 Gene

Gene Ontology (GO) - Molecular Function for PPEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity --
GO:0004722 protein serine/threonine phosphatase activity TAS --
GO:0005506 iron ion binding IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12051765
genes like me logo Genes that share ontologies with PPEF1: view

Phenotypes for PPEF1 Gene

genes like me logo Genes that share phenotypes with PPEF1: view

Animal Models for PPEF1 Gene

MGI Knock Outs for PPEF1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PPEF1

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for PPEF1 Gene

Localization for PPEF1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPEF1 Gene COMPARTMENTS Subcellular localization image for PPEF1 gene
Compartment Confidence
cytosol 4
nucleus 1

Gene Ontology (GO) - Cellular Components for PPEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PPEF1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPEF1 Gene

Pathways & Interactions for PPEF1 Gene

genes like me logo Genes that share pathways with PPEF1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PPEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation TAS 9215685
GO:0007603 phototransduction, visible light TAS --
GO:0016056 rhodopsin mediated signaling pathway TAS --
GO:0022400 regulation of rhodopsin mediated signaling pathway TAS --
GO:0050906 detection of stimulus involved in sensory perception IEA --
genes like me logo Genes that share ontologies with PPEF1: view

No data available for SIGNOR curated interactions for PPEF1 Gene

Drugs & Compounds for PPEF1 Gene

(5) Drugs for PPEF1 Gene - From: HMDB and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Pharma 30
Calcium Nutra 0
Magnesium Nutra 0
serine Nutra 420
threonine Nutra 16

(4) Additional Compounds for PPEF1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PPEF1: view

Transcripts for PPEF1 Gene

Unigene Clusters for PPEF1 Gene

Protein phosphatase, EF-hand calcium binding domain 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PPEF1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPEF1 Gene

No ASD Table

Relevant External Links for PPEF1 Gene

GeneLoc Exon Structure for
PPEF1
ECgene alternative splicing isoforms for
PPEF1

Expression for PPEF1 Gene

mRNA expression in normal human tissues for PPEF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPEF1 Gene

This gene is overexpressed in Testis (x14.4), Brain - Spinal cord (cervical c-1) (x7.6), Brain - Anterior cingulate cortex (BA24) (x5.8), Brain - Cortex (x4.8), and Brain - Frontal Cortex (BA9) (x4.5).

Protein differential expression in normal tissues from HIPED for PPEF1 Gene

This gene is overexpressed in Spinal cord (60.4) and Testis (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PPEF1 Gene



SOURCE GeneReport for Unigene cluster for PPEF1 Gene Hs.211589

mRNA Expression by UniProt/SwissProt for PPEF1 Gene

O14829-PPE1_HUMAN
Tissue specificity: Detected in retina and retinal derived Y-79 retinoblastoma cells. Also found in fetal brain
genes like me logo Genes that share expression patterns with PPEF1: view

Protein tissue co-expression partners for PPEF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PPEF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PPEF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PPEF1 35
  • 83.59 (n)
  • 76.63 (a)
PPEF1 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPEF1 35
  • 85.94 (n)
  • 79.13 (a)
PPEF1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppef1 35
  • 80.52 (n)
  • 71.09 (a)
Ppef1 16
Ppef1 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPEF1 35
  • 93.73 (n)
  • 92.63 (a)
PPEF1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppef1 35
  • 81.45 (n)
  • 73.9 (a)
oppossum
(Monodelphis domestica)
Mammalia PPEF1 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPEF1 36
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPEF1 35
  • 62.74 (n)
  • 55 (a)
PPEF1 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPEF1 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppef1 35
  • 62.14 (n)
  • 56.25 (a)
zebrafish
(Danio rerio)
Actinopterygii ppef1 35
  • 58.83 (n)
  • 55.61 (a)
ppef1 36
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta rdgC 37
  • 39 (a)
rdgC 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pef-1 35
  • 52.57 (n)
  • 44.39 (a)
pef-1 36
  • 37 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PPT1 36
  • 20 (a)
OneToMany
Species with no ortholog for PPEF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPEF1 Gene

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

Paralogs for PPEF1 Gene

Paralogs for PPEF1 Gene

(4) SIMAP similar genes for PPEF1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PPEF1: view

Variants for PPEF1 Gene

Sequence variations from dbSNP and Humsavar for PPEF1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs183007 -- 18,818,717(-) GTTAA(C/T)AAGAA intron-variant
rs239739 -- 18,828,046(+) TATTT(G/T)TGTGT downstream-variant-500B
rs239741 -- 18,815,907(+) tattt(A/T)ttttt intron-variant
rs239742 -- 18,816,639(-) tattg(A/G)gactt intron-variant
rs239743 -- 18,817,365(-) gactc(C/T)gtctc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPEF1 Gene

Variant ID Type Subtype PubMed ID
esv33517 CNV Loss 17666407
esv2752317 CNV Gain 17911159

Variation tolerance for PPEF1 Gene

Residual Variation Intolerance Score: 21.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPEF1 Gene

HapMap Linkage Disequilibrium report
PPEF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPEF1 Gene

Disorders for PPEF1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PPEF1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
juvenile retinoschisis
  • retinoschisis juvenile x chromosome-linked
x-linked juvenile retinoschisis
  • juvenile retinoschisis
pineal parenchymal tumor of intermediate differentiation
  • pineal parenchymal tumour of intermediate differentiation
retinal degeneration
  • degeneration of retina
- elite association
Search PPEF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PPEF1

Genetic Association Database (GAD)
PPEF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPEF1
genes like me logo Genes that share disorders with PPEF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPEF1 Gene

Publications for PPEF1 Gene

  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. (PMID: 9215685) Montini E. … Franco B. (Hum. Mol. Genet. 1997) 2 23 67
  2. Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. (PMID: 11013441) Huopaniemi L. … Alitalo T. (Hum. Mutat. 2000) 23 67
  3. Photoreceptor serine/threonine protein phosphatase type 7: cloning, expression, and functional analysis. (PMID: 10736728) Huang X. … Honkanen R.E. (Meth. Enzymol. 2000) 23 67
  4. RdgC/PP5-related phosphatases: novel components in signal transduction. (PMID: 10433516) Andreeva A.V. … Kutuzov M.A. (Cell. Signal. 1999) 23 67
  5. Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. (PMID: 9402977) van de Vosse E. … Bergen A.A. (Hum. Genet. 1997) 23 67

Products for PPEF1 Gene

Sources for PPEF1 Gene

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