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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]
PPEF1 (Protein Phosphatase With EF-Hand Domain 1) is a Protein Coding gene. Diseases associated with PPEF1 include Retinal Degeneration and Retinitis Pigmentosa 35. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include calcium ion binding and iron ion binding. An important paralog of this gene is PPEF2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ018674 | Promoter/Enhancer | 1.9 | FANTOM5 Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.1 | 134 | 2.4 | PRDM10 KDM1A BACH1 POLR3G RBFOX2 RXRB PATZ1 IRF2 REST BRD4 | PPEF1 TRV-TAC1-2 lnc-PPEF1-2 CDKL5 PHKA2 | |
GH0XJ018690 | Promoter/Enhancer | 0.8 | EPDnew Ensembl | 605.2 | +16.5 | 16534 | 1.6 | CEBPB JUND EP300 FOS GATA2 | PPEF1 PPEF1-AS1 5MWI_A-185 lnc-PPEF1-2 PHKA2 | |
GH0XJ018707 | Promoter | 0.6 | EPDnew | 600.3 | +32.6 | 32571 | 0.1 | PRDM10 POLR2A OSR2 PRDM4 TRIM28 L3MBTL2 | piR-57135-138 PPEF1 piR-61101-707 PHKA2 | |
GH0XJ018681 | Enhancer | 0.6 | Ensembl | 4.9 | +7.7 | 7734 | 2 | RELB RUNX3 GATAD2B TCF12 ZNF592 EBF1 BHLHE40 ZNF687 MLLT1 RAD51 | PPEF1 5MWI_A-185 PPEF1-AS1 lnc-PPEF1-2 PHKA2 | |
GH0XJ018701 | Enhancer | 1 | Ensembl ENCODE | 0.3 | +27.5 | 27464 | 2.5 | PRDM10 REST ZNF629 ZNF692 FOXA1 PRDM1 ZSCAN4 PATZ1 ZNF239 ZNF37A | piR-57135-138 piR-48455 PPEF1 PHKA2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
GO:0004722 | protein serine/threonine phosphatase activity | TAS,IBA | 21873635 |
GO:0005506 | iron ion binding | IEA | -- |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IEA,IPI | 12051765 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Phototransduction | ||
2 | Signaling by GPCR | ||
3 | Metabolism of fat-soluble vitamins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006470 | protein dephosphorylation | TAS | 9215685 |
GO:0022400 | regulation of rhodopsin mediated signaling pathway | TAS | -- |
GO:0050906 | detection of stimulus involved in sensory perception | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Phosphate |
|
14066-19-4, 14265-44-2 |
|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PPEF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PPEF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PPEF1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ppef1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ppef1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PPEF1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PPEF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PPEF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PPEF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ppef1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ppef1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | rdgC 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | pef-1 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PPT1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713255 | Benign: not provided | 18,784,036(+) | A/G | SYNONYMOUS_VARIANT | |
714921 | Benign: not provided | 18,779,018(+) | C/T | SYNONYMOUS_VARIANT | |
rs1065074 | - | p.Lys367Thr | |||
rs11796620 | - | p.Gly443Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2752317 | CNV | gain | 17911159 |
esv33517 | CNV | loss | 17666407 |
esv3576793 | CNV | gain | 25503493 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinal degeneration |
|
|
retinitis pigmentosa 35 |
|
|
pineal parenchymal tumor of intermediate differentiation |
|
|