Free for academic non-profit institutions. Other users need a Commercial license
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]
PHLPP1 (PH Domain And Leucine Rich Repeat Protein Phosphatase 1) is a Protein Coding gene. Diseases associated with PHLPP1 include Colorectal Cancer and Timothy Grass Allergy. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include phosphoprotein phosphatase activity. An important paralog of this gene is PHLPP2.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
|
2 | GAB1 signalosome |
.89
|
|
3 | Downstream signaling events of B Cell Receptor (BCR) | ||
4 | Innate Immune System |
.61
|
|
5 | PI3K-Akt signaling pathway |
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:0007165 | signal transduction | IBA | 21873635 |
GO:0009649 | entrainment of circadian clock | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PHLPP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PHLPP1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Phlpp1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Phlpp1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | PHLPP1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PHLPP1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PHLPP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PHLPP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PHLPP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100497530 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | PHLPP1 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Phlpp 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | F43C1.1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CYR1 31 33 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
983333 | Uncertain Significance: Intellectual disability | 62,903,146(+) |
C/T NM_194449.4(PHLPP1):c.2627C>T (p.Ala876Val) |
MISSENSE | |
rs1038320366 | Benign: not provided | 62,716,274(+) |
C/T NM_194449.4(PHLPP1):c.591C>T (p.His197=) |
SYNONYMOUS | |
rs140161294 | Benign: not provided | 62,979,347(+) |
G/T NM_194449.4(PHLPP1):c.5070G>T (p.Pro1690=) |
SYNONYMOUS | |
rs144520623 | Benign: not provided | 62,979,014(+) |
ACAG/A NM_194449.4(PHLPP1):c.4740_4742GCA[1] (p.Gln1581del) |
INFRAME_DELETION | |
rs1555686556 | Uncertain Significance: not provided | 62,978,814(+) |
G/A NM_194449.4(PHLPP1):c.4537G>A (p.Glu1513Lys) |
MISSENSE |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
colorectal cancer |
|
|
timothy grass allergy |
|
|
cowden syndrome 1 |
|
|