This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signali... See more...

Aliases for PHLPP1 Gene

Aliases for PHLPP1 Gene

  • PH Domain And Leucine Rich Repeat Protein Phosphatase 1 2 3 5
  • Pleckstrin Homology Domain Containing, Family E (With Leucine Rich Repeats) Member 1 2 3
  • PH Domain Leucine-Rich Repeat-Containing Protein Phosphatase 1 3 4
  • Suprachiasmatic Nucleus Circadian Oscillatory Protein 3 4
  • Protein Phosphatase, Mg2+/Mn2+ Dependent 3A 2 3
  • PH Domain-Containing Family E Member 1 3 4
  • EC 3.1.3.16 4 52
  • PLEKHE1 3 4
  • PHLPP 3 4
  • SCOP 3 4
  • Pleckstrin Homology Domain-Containing Family E Member 1 4
  • PH Domain And Leucine Rich Repeat Protein Phosphatase 2
  • SCN Circadian Oscillatory Protein 3
  • KIAA0606 4
  • PPM3A 3
  • HSCOP 4

External Ids for PHLPP1 Gene

Previous HGNC Symbols for PHLPP1 Gene

  • PLEKHE1
  • PHLPP

Previous GeneCards Identifiers for PHLPP1 Gene

  • GC18P058535
  • GC18P060382
  • GC18P057093

Summaries for PHLPP1 Gene

Entrez Gene Summary for PHLPP1 Gene

  • This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011]

GeneCards Summary for PHLPP1 Gene

PHLPP1 (PH Domain And Leucine Rich Repeat Protein Phosphatase 1) is a Protein Coding gene. Diseases associated with PHLPP1 include Colorectal Cancer. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and GAB1 signalosome. Gene Ontology (GO) annotations related to this gene include phosphoprotein phosphatase activity. An important paralog of this gene is PHLPP2.

UniProtKB/Swiss-Prot Summary for PHLPP1 Gene

  • Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on 'Ser-473' of AKT2 and AKT3, 'Ser-660' of PRKCB and 'Ser-657' of PRKCA (PubMed:15808505, PubMed:17386267, PubMed:18162466). Isoform 2 seems to have a major role in regulating Akt signaling in hippocampal neurons (By similarity). Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of 'Ser-473' of Akt triggers apoptosis and suppression of tumor growth. Dephosphorylation of PRKCA and PRKCB leads to their destabilization and degradation (PubMed:18162466). Dephosphorylates STK4 on 'Thr-387' leading to STK4 activation and apoptosis (PubMed:20513427). Dephosphorylates RPS6KB1 and is involved in regulation of cap-dependent translation (PubMed:21986499). Inhibits cancer cell proliferation and may act as a tumor suppressor (PubMed:19079341). Dephosphorylates RAF1 inhibiting its kinase activity (PubMed:24530606). May act as a negative regulator of K-Ras signaling in membrane rafts (By similarity). Involved in the hippocampus-dependent long-term memory formation (By similarity). Involved in circadian control by regulating the consolidation of circadian periodicity after resetting (By similarity). Involved in development and function of regulatory T-cells (By similarity).

Gene Wiki entry for PHLPP1 Gene

Additional gene information for PHLPP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHLPP1 Gene

Genomics for PHLPP1 Gene

GeneHancer (GH) Regulatory Elements for PHLPP1 Gene

Promoters and enhancers for PHLPP1 Gene
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
GH18J062714 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 519.9 +2.9 2869 8.2 FOXK2 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G USF1 SP1 NCOR1 PHLPP1 RF00026-493 RNU6-142P
GH18J062713 Enhancer 0.4 ENCODE dbSUPER 500.7 -1.4 -1396 0.2 ZBTB33 PHLPP1 piR-57133-280
GH18J062778 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 33.1 +69.9 69862 15.4 EP300 ZSCAN5C TCF12 FOS ZIC2 ZNF623 ZEB1 ATF2 OSR2 BCL11A PHLPP1 ENSG00000267560 RNU6-142P HSALNG0122006 piR-52079-090
GH18J062808 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 29.8 +96.5 96462 9.4 TCF12 AFF1 CTBP1 ZBTB26 ATF2 BCL11A FOXA2 ZBTB17 ZNF263 TRIM24 PHLPP1 RNU6-142P ZCCHC2 piR-52079-090 MG828668-052
GH18J062876 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 26.9 +165.6 165562 11.2 EP300 ZSCAN5C TCF12 TEAD4 ZNF639 ZNF10 ZBTB26 KLF7 ZEB1 ATF2 PHLPP1 ENSG00000267390 RNU6-142P PIGN MG828668-052 piR-52079-090
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHLPP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHLPP1

Genomic Locations for PHLPP1 Gene

Genomic Locations for PHLPP1 Gene
chr18:62,715,439-62,980,443
(GRCh38/hg38)
Size:
265,005 bases
Orientation:
Plus strand
chr18:60,382,672-60,647,666
(GRCh37/hg19)
Size:
264,995 bases
Orientation:
Plus strand

Genomic View for PHLPP1 Gene

Genes around PHLPP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHLPP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHLPP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHLPP1 Gene

Proteins for PHLPP1 Gene

  • Protein details for PHLPP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60346-PHLP1_HUMAN
    Recommended name:
    PH domain leucine-rich repeat-containing protein phosphatase 1
    Protein Accession:
    O60346
    Secondary Accessions:
    • A1A4F5
    • Q641Q7
    • Q6P4C4
    • Q6PJI6
    • Q86TN6
    • Q96FK2
    • Q9NUY1

    Protein attributes for PHLPP1 Gene

    Size:
    1717 amino acids
    Molecular mass:
    184672 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with the nucleotide free form of K-Ras (KRAS) via its LRR repeats (By similarity). Interacts with AKT2, AKT3, PRKCB isoform beta-II, STK4, RPS6KB1, RAF1 (PubMed:17386267, PubMed:18162466, PubMed:19732725, PubMed:21986499, PubMed:24530606). Isoform 1 (predominantly) and isoform 2 interact with BRAP (PubMed:25820252). Interacts with FKBP5; FKBP5 acts as a scaffold for PHLPP1 and Akt (PubMed:19732725). Interacts with SCRIB; SCRIB acts as a scaffold for PHLPP1 and Akt (PubMed:21701506). Interacts with SLC9A3R1; SLC9A3R1 scaffolds a heterotrimeric complex with PTEN at the plasma membrane (PubMed:21804599). Interacts with WDR48 and USP12 (PubMed:24145035).
    SequenceCaution:
    • Sequence=AAH14927.3; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH82244.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI26278.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91980.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PHLPP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHLPP1 Gene

Selected DME Specific Peptides for PHLPP1 Gene

O60346:
  • LCGTCLIVSSVKD
  • SDNGLDSDD
  • IPEVLEKLT
  • LAAAKKLCTLAQSYGC
  • PPPSPGI
  • YNVRKGK
  • LHCERNQL
  • SSEVGSTASDE
  • KAIITED
  • VEVEVDIHC

Post-translational modifications for PHLPP1 Gene

  • Ubiquitination at Lys246 and Lys1146
  • Modification sites at PhosphoSitePlus

Other Protein References for PHLPP1 Gene

Domains & Families for PHLPP1 Gene

Gene Families for PHLPP1 Gene

Protein Domains for PHLPP1 Gene

Blocks:
  • Pleckstrin-like
  • Leucine-rich repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PHLPP1 Gene

GenScript: Design optimal peptide antigens:
  • Suprachiasmatic nucleus circadian oscillatory protein (PHLP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60346

UniProtKB/Swiss-Prot:

PHLP1_HUMAN :
  • The PH domain is required for interaction with PRKCB and its dephosphorylation.
Domain:
  • The PH domain is required for interaction with PRKCB and its dephosphorylation.
genes like me logo Genes that share domains with PHLPP1: view

Function for PHLPP1 Gene

Molecular function for PHLPP1 Gene

UniProtKB/Swiss-Prot Function:
Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on 'Ser-473' of AKT2 and AKT3, 'Ser-660' of PRKCB and 'Ser-657' of PRKCA (PubMed:15808505, PubMed:17386267, PubMed:18162466). Isoform 2 seems to have a major role in regulating Akt signaling in hippocampal neurons (By similarity). Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of 'Ser-473' of Akt triggers apoptosis and suppression of tumor growth. Dephosphorylation of PRKCA and PRKCB leads to their destabilization and degradation (PubMed:18162466). Dephosphorylates STK4 on 'Thr-387' leading to STK4 activation and apoptosis (PubMed:20513427). Dephosphorylates RPS6KB1 and is involved in regulation of cap-dependent translation (PubMed:21986499). Inhibits cancer cell proliferation and may act as a tumor suppressor (PubMed:19079341). Dephosphorylates RAF1 inhibiting its kinase activity (PubMed:24530606). May act as a negative regulator of K-Ras signaling in membrane rafts (By similarity). Involved in the hippocampus-dependent long-term memory formation (By similarity). Involved in circadian control by regulating the consolidation of circadian periodicity after resetting (By similarity). Involved in development and function of regulatory T-cells (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Insensitive to okadaic acid (PubMed:15808505). Deubiquitination by WDR48-USP12 complex positively regulates PHLPP1 stability (PubMed:24145035).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.5 mM for p-nitrophenyl phosphate {ECO:0000269 PubMed:24892992};

Enzyme Numbers (IUBMB) for PHLPP1 Gene

Phenotypes From GWAS Catalog for PHLPP1 Gene

Gene Ontology (GO) - Molecular Function for PHLPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity IBA 21873635
GO:0005515 protein binding IEA,IPI 18162466
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PHLPP1: view
genes like me logo Genes that share phenotypes with PHLPP1: view

Animal Models for PHLPP1 Gene

MGI Knock Outs for PHLPP1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PHLPP1 Gene

Localization for PHLPP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHLPP1 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Nucleus. Note=In colorectal cancer tissue, expression is concentrated at the lateral membrane of epithelial cells.
[Isoform 2]: Cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHLPP1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for PHLPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PHLPP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PHLPP1 Gene

Pathways & Interactions for PHLPP1 Gene

genes like me logo Genes that share pathways with PHLPP1: view

Pathways by source for PHLPP1 Gene

SIGNOR curated interactions for PHLPP1 Gene

Activates:
Inactivates:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for PHLPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002667 regulation of T cell anergy IEA --
GO:0006470 protein dephosphorylation IEA --
GO:0006915 apoptotic process IEA --
GO:0009649 entrainment of circadian clock IEA --
GO:0042981 regulation of apoptotic process IDA 20513427
genes like me logo Genes that share ontologies with PHLPP1: view

Drugs & Compounds for PHLPP1 Gene

(4) Drugs for PHLPP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Calcium Approved Nutra 7884
Manganese Approved Nutra 51

(1) Additional Compounds for PHLPP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with PHLPP1: view

Transcripts for PHLPP1 Gene

mRNA/cDNA for PHLPP1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHLPP1 Gene

No ASD Table

Relevant External Links for PHLPP1 Gene

GeneLoc Exon Structure for
PHLPP1

Expression for PHLPP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PHLPP1 Gene

Protein differential expression in normal tissues from HIPED for PHLPP1 Gene

This gene is overexpressed in Monocytes (30.0), Heart (10.8), and Neutrophil (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PHLPP1 Gene



Protein tissue co-expression partners for PHLPP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PHLPP1

SOURCE GeneReport for Unigene cluster for PHLPP1 Gene:

Hs.465337

mRNA Expression by UniProt/SwissProt for PHLPP1 Gene:

O60346-PHLP1_HUMAN
Tissue specificity: In colorectal cancer tissue, expression is highest in the surface epithelium of normal colonic mucosa adjacent to the cancer tissue but is largely excluded from the crypt bases. Expression is lost or significantly decreased in 78% of tested tumors (at protein level). Ubiquitously expressed in non-cancerous tissues.

Evidence on tissue expression from TISSUES for PHLPP1 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with PHLPP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHLPP1 Gene

Orthologs for PHLPP1 Gene

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

Orthologs for PHLPP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHLPP1 31 30
  • 99.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PHLPP1 31 30
  • 87.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Phlpp1 17 31 30
  • 86.09 (n)
rat
(Rattus norvegicus)
Mammalia Phlpp1 30
  • 85.78 (n)
cow
(Bos Taurus)
Mammalia PHLPP1 31 30
  • 84.89 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHLPP1 31
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHLPP1 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHLPP1 31 30
  • 81.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHLPP1 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497530 30
  • 72.77 (n)
zebrafish
(Danio rerio)
Actinopterygii PHLPP1 31
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Phlpp 31
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F43C1.1 31
  • 25 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYR1 33 31
  • 12 (a)
Species where no ortholog for PHLPP1 was found in the sources mined by GeneCards:
  • 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 PHLPP1 Gene

ENSEMBL:
Gene Tree for PHLPP1 (if available)
TreeFam:
Gene Tree for PHLPP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PHLPP1: view image

Paralogs for PHLPP1 Gene

(4) SIMAP similar genes for PHLPP1 Gene using alignment to 2 proteins:

  • PHLP1_HUMAN
  • K7EP91_HUMAN
genes like me logo Genes that share paralogs with PHLPP1: view

Variants for PHLPP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHLPP1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs1555686556 Uncertain Significance: not provided 62,978,814(+) G/A MISSENSE_VARIANT
rs755438608 Uncertain Significance: not provided 62,716,074(+) TCCGCGGCCG/T INFRAME_DELETION
rs9950585 - p.Ser1118Thr

Additional dbSNP identifiers (rs#s) for PHLPP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PHLPP1 Gene

Variant ID Type Subtype PubMed ID
dgv620e214 CNV gain 21293372
esv2384564 CNV deletion 18987734
esv2659096 CNV deletion 23128226
esv2665321 CNV deletion 23128226
esv2717197 CNV deletion 23290073
esv3339270 CNV duplication 20981092
esv3447821 CNV insertion 20981092
esv7829 CNV gain 19470904
nsv1072808 CNV deletion 25765185
nsv1133429 CNV deletion 24896259
nsv1146696 CNV insertion 26484159
nsv525821 CNV loss 19592680
nsv953555 CNV duplication 24416366

Variation tolerance for PHLPP1 Gene

Residual Variation Intolerance Score: 6.46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.82; 67.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHLPP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHLPP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHLPP1 Gene

Disorders for PHLPP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PHLPP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer
  • crc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PHLPP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PHLPP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHLPP1 Gene

Publications for PHLPP1 Gene

  1. PHLPP: a phosphatase that directly dephosphorylates Akt, promotes apoptosis, and suppresses tumor growth. (PMID: 15808505) Gao T … Newton AC (Molecular cell 2005) 2 3 4 23 54
  2. Loss of PHLPP expression in colon cancer: role in proliferation and tumorigenesis. (PMID: 19079341) Liu J … Gao T (Oncogene 2009) 3 4 23 54
  3. The phosphatase PHLPP controls the cellular levels of protein kinase C. (PMID: 18162466) Gao T … Newton AC (The Journal of biological chemistry 2008) 3 4 23 54
  4. PHLPP and a second isoform, PHLPP2, differentially attenuate the amplitude of Akt signaling by regulating distinct Akt isoforms. (PMID: 17386267) Brognard J … Newton AC (Molecular cell 2007) 3 4 23 54
  5. Interactome of the negative regulator of nuclear import BRCA1-binding protein 2. (PMID: 25820252) Fatima S … Jans DA (Scientific reports 2015) 3 4 54

Products for PHLPP1 Gene

Sources for PHLPP1 Gene