PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PHLPP1provided by HGNC
Official Full Name: PH domain and leucine rich repeat protein phosphatase 1provided by HGNC
Primary source: HGNC:HGNC:20610
See related: Ensembl:ENSG00000081913 MIM:609396; AllianceGenome:HGNC:20610
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCOP; PHLPP; PPM3A; PLEKHE1
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 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]
Expression: Broad expression in brain (RPKM 17.2), testis (RPKM 8.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.33

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (62715541..62980433)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (62918332..63183249)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (60382774..60647666)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PHLPP1 inhibits the growth and aerobic glycolysis activity of human ovarian granular cells through inactivating AKT pathway.
Title: PHLPP1 inhibits the growth and aerobic glycolysis activity of human ovarian granular cells through inactivating AKT pathway.
NAP1L5 facilitates pancreatic ductal adenocarcinoma progression via TRIM29-mediated ubiquitination of PHLPP1.
Title: NAP1L5 facilitates pancreatic ductal adenocarcinoma progression via TRIM29-mediated ubiquitination of PHLPP1.
SKP2 Contributes to AKT Activation by Ubiquitination Degradation of PHLPP1, Impedes Autophagy, and Facilitates the Survival of Thyroid Carcinoma.
Title: SKP2 Contributes to AKT Activation by Ubiquitination Degradation of PHLPP1, Impedes Autophagy, and Facilitates the Survival of Thyroid Carcinoma.
PHLPP isoforms differentially regulate Akt isoforms and AS160 affecting neuronal insulin signaling and insulin resistance via Scribble.
Title: PHLPP isoforms differentially regulate Akt isoforms and AS160 affecting neuronal insulin signaling and insulin resistance via Scribble.
Inhibition of PHLPP1/2 phosphatases rescues pancreatic beta-cells in diabetes.
Title: Inhibition of PHLPP1/2 phosphatases rescues pancreatic β-cells in diabetes.
Downregulation of PHLPP induced by endoplasmic reticulum stress promotes eIF2alpha phosphorylation and chemoresistance in colon cancer.
Title: Downregulation of PHLPP induced by endoplasmic reticulum stress promotes eIF2α phosphorylation and chemoresistance in colon cancer.
Heat shock protein 47 promotes tumor survival and therapy resistance by modulating AKT signaling via PHLPP1 in colorectal cancer.
Title: Heat shock protein 47 promotes tumor survival and therapy resistance by modulating AKT signaling via PHLPP1 in colorectal cancer.
USP46 Inhibits Cell Proliferation in Lung Cancer through PHLPP1/AKT Pathway.
Title: USP46 Inhibits Cell Proliferation in Lung Cancer through PHLPP1/AKT Pathway.
PTEN and PHLPP crosstalk in cancer cells and in TGFbeta-activated stem cells.
Title: PTEN and PHLPP crosstalk in cancer cells and in TGFβ-activated stem cells.
[Down-regulation of PHLPP1 expression ameliorates high glucose-induced autophagy inhibition and apoptosis promotion of podocytes by activating PI3K/AKT/mTOR pathway].
Title: [Down-regulation of PHLPP1 expression ameliorates high glucose-induced autophagy inhibition and apoptosis promotion of podocytes by activating PI3K/AKT/mTOR pathway].

Submit: New GeneRIF Correction See all GeneRIFs (68)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L17688 (e-PCR)
- UniSTS:74509

RH121698 (e-PCR)
- UniSTS:134437

L17705 (e-PCR)
- UniSTS:66091

SHGC-34992 (e-PCR)
- UniSTS:58

RH16037 (e-PCR)
- UniSTS:24378

RH123414 (e-PCR)
- UniSTS:135789

D1S1423 (e-PCR)
- UniSTS:149619

PLEKHE1 (e-PCR)
- UniSTS:278917

GDB:335751 (e-PCR)
- UniSTS:156601

RH121578 (e-PCR)
- UniSTS:134350

D20S200 (e-PCR)
- UniSTS:2525

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables myosin phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in entrainment of circadian clock	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of T cell anergy	IEA Inferred from Electronic Annotation more info
involved_in regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of p38MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IC Inferred by Curator more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: PH domain leucine-rich repeat-containing protein phosphatase 1

Names: PH domain-containing family E member 1; SCN circadian oscillatory protein; pleckstrin homology domain containing, family E (with leucine rich repeats) member 1; protein phosphatase, Mg2+/Mn2+ dependent 3A; suprachiasmatic nucleus circadian oscillatory protein

NP_919431.2

EC 3.1.3.16

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_031923.1 RefSeqGene

Range

5103..269995

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_194449.4 → NP_919431.2 PH domain leucine-rich repeat-containing protein phosphatase 1

See identical proteins and their annotated locations for NP_919431.2

Status: REVIEWED

Source sequence(s)

AC015989, AC022046, AC027553, BC126277

Consensus CDS

CCDS45881.2

UniProtKB/Swiss-Prot

A1A4F5, O60346, Q641Q7, Q6P4C4, Q6PJI6, Q86TN6, Q96FK2, Q9NUY1

Related

ENSP00000262719.4, ENST00000262719.10

Conserved Domains (6) summary

smart00332
Location:1168 → 1420

PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain

cd00116
Location:625 → 929

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd13322
Location:535 → 631

PH_PHLPP-like; PH domain leucine-rich repeat protein phosphatase family Pleckstrin homology-like domain

sd00033
Location:833 → 853

LRR_RI; leucine-rich repeat [structural motif]

pfam00169
Location:555 → 636

PH; PH domain

pfam13855
Location:1014 → 1072

LRR_8; Leucine rich repeat