Gene Gene information from NCBI Gene database.
Entrez ID 23239
Gene name PH domain and leucine rich repeat protein phosphatase 1
Gene symbol PHLPP1
Synonyms (NCBI Gene)
PHLPPPLEKHE1PPM3ASCOP
Chromosome 18
Chromosome location 18q21.33
Summary 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
miRNA miRNA information provided by mirtarbase database.
144
miRTarBase ID miRNA Experiments Reference
MIRT019235 hsa-miR-331-3p Sequencing 20371350
MIRT021082 hsa-miR-190a-5p Reporter assay;Western blot 21750348
MIRT041846 hsa-miR-484 CLASH 23622248
MIRT037351 hsa-miR-877-5p CLASH 23622248
MIRT035820 hsa-miR-1307-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0002667 Process Regulation of T cell anergy IEA
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IBA
GO:0004722 Function Protein serine/threonine phosphatase activity IDA 28147277
GO:0004722 Function Protein serine/threonine phosphatase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609396 20610 ENSG00000081913
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60346
Protein name PH domain leucine-rich repeat-containing protein phosphatase 1 (EC 3.1.3.16) (Pleckstrin homology domain-containing family E member 1) (PH domain-containing family E member 1) (Suprachiasmatic nucleus circadian oscillatory protein) (hSCOP)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 537 636 PH domain Domain
PF13516 LRR_6 691 705 Leucine Rich repeat Repeat
PF13855 LRR_8 714 772 Leucine rich repeat Repeat
PF13516 LRR_6 829 849 Leucine Rich repeat Repeat
PF00481 PP2C 1174 1415 Protein phosphatase 2C Family
Tissue specificity 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 t
Sequence
MEPAAAATVQRLPELGREDRASAPAAAAAAAAAAAAAAAALAAAAGGGRSPEPALTPAAP
SGGNGSGSGAREEAPGEAPPGPLPGRAGGAGRRRRRGAPQPIAGGAAPVPGAGGGANSLL
LRRGRLKRNLSAAAAAASSSSSSSAAAASHSPGAAGLPASCSASASLCTRSLDRKTLLLK
HRQTLQLQPSDRDWVRHQLQRGCVHVFDRHMASTYLRPVLCTLDTTAGEVAARLLQLGHK
GGGVVKVLGQGPGAAAAREPAEPPPEAGPRLAPPEPRDSEVPPARSAPGAFGGPPRAPPA
DLPLPVGGPGGWSRRASPAPSDSSPGEPFVGGPVSSPRAPRPVVSDTESFSLSPSAESVS
DRLDPYSSGGGSSSSSEELEADAASAPTGVPGQPRRPGHPAQPLPLPQTASSPQPQQKAP
RAIDSPGGAVREGSCEEKAAAAVAPGGLQSTPGRSGVTAEKAPPPPPPPTLYVQLHGETT
RRLEAEEKPLQIQNDYLFQLGFGELWRVQEEGMDSEIGCLIRFYAGKPHSTGSSERIQLS
GMYNVRKGKMQLPVNRWTRRQVILCGTCLIVSSVKDSLTGKMHVLPLIGGKVEEVKKHQH
CLAFSSSGPQSQTYYICFDTFTEYLRWLRQVSKVAS
QRISSVDLSCCSLEHLPANLFYSQ
DLTHLNLKQNFLRQNPSLPAARGLNELQRFTKLKSLNLSNNHLGDFPLAVCSIPTLAELN
VSCNALRSVPAAVGVMHNLQTFLLDGNFLQSLPAELENMKQLSYLGLSFNEF
TDIPEVLE
KLTAVDKLCMSGNCVETLRLQALRKMPHIKHVDLRLNVIRKLIADEVDFLQHVTQLDLRD
NKLGDLDAM
IFNNIEVLHCERNQLVTLDICGYFLKALYASSNELVQLDVYPVPNYLSYMD
VSRNRLENVPEWVCESRKLEVLDIGHNQICELPARLFCNSSLRKLLAGHNQLARLPERLE
RTSVEVLDVQHNQLLELPPNLLMKADSLRFLNASANKLESLPPATLSEETNSILQELYLT
NNSLTDKCVPLLTGHPHLKILHMAYNRLQSFPASKMAKLEELEEIDLSGNKLKAIPTTIM
NCRRMHTVIAHSNCIEVFPEVMQLPEIKCVDLSCNELSEVTLPENLPPKLQELDLTGNPR
LVLDHKTLELLNNIRCFKIDQPSTGDASGAPAVWSHGYTEASGVKNKLCVAALSVNNFCD
NREALYGVFDGDRNVEVPYLLQCTMSDILAEELQKTKNEEEYMVNTFIVMQRKLGTAGQK
LGGAAVLCHIKHDPVDPGGSFTLTSANVGKCQTVLCRNGKPLPLSRSYIMSCEEELKRIK
QHKAIITEDGKVNGVTESTRILGYTFLHPSVVPRPHVQSVLLTPQDEFFILGSKGLWDSL
SVEEAVEAVRNVPDALAAAKKLCTLAQSYGCHDSI
SAVVVQLSVTEDSFCCCELSAGGAV
PPPSPGIFPPSVNMVIKDRPSDGLGVPSSSSGMASEISSELSTSEMSSEVGSTASDEPPP
GALSENSPAYPSEQRCMLHPICLSNSFQRQLSSATFSSAFSDNGLDSDDEEPIEGVFTNG
SRVEVEVDIHCSRAKEKEKQQHLLQVPAEASDEGIVISANEDEPGLPRKADFSAVGTIGR
RRANGSVAPQERSHNVIEVATDAPLRKPGGYFAAPAQPDPDDQFIIPPELEEEVKEIMKH
HQEQQQQQQPPPPPQLQPQLPRHYQLDQLPDYYDTPL
Sequence length 1717
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  PI3K-Akt signaling pathway   Negative regulation of the PI3K/AKT network
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Attention deficit hyperactivity disorder Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CHRONIC LYMPHOCYTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Focal impaired awareness seizure Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FOCAL ONSET IMPAIRED AWARENESS EPILEPTIC SEIZURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma Associate 28139510
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 26463718
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 21177869, 31178227
★☆☆☆☆
Found in Text Mining only
Calcinosis Cutis Associate 21840483
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 21750348
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Associate 26760962
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Associate 22183558
★☆☆☆☆
Found in Text Mining only
Chordoma Associate 26823799
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Inhibit 15808505, 19797085, 24061475
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 21177869, 24145035, 29194591, 34663797
★☆☆☆☆
Found in Text Mining only