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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PTPN1
protein tyrosine phosphatase non-receptor type 1
Chromosome 20 Β· 20q13.13
NCBI Gene: 5770Ensembl: ENSG00000196396.10HGNC: HGNC:9642UniProt: A8K3M3
488PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of intracellular protein transportRNA bindingendoplasmic reticulum unfolded protein responsephosphoprotein phosphatase activityneurodegenerative diseaseAlzheimer diseaseParkinson diseasemultiple sclerosis
✦AI Summary

PTPN1 (protein tyrosine phosphatase non-receptor type 1) is a non-receptor tyrosine phosphatase that regulates insulin and leptin signaling pathways, functioning as a negative regulator of metabolic homeostasis 1. Its primary mechanism involves dephosphorylation of the insulin receptor and suppression of downstream PI3K/AKT signaling 1, and it also mediates dephosphorylation of PERK to regulate endoplasmic reticulum unfolded protein response [UniProt]. Additionally, PTPN1 controls cell migration by localizing to ER-PM contact sites at the cell rear, where it dephosphorylates receptor tyrosine kinases to confine signaling to the cell front 2. In obesity-associated type 2 diabetes, adrenomedullin-mediated PTPN1 activation in endothelial cells promotes insulin receptor dephosphorylation, contributing to systemic insulin resistance 3. PTPN1 inhibition emerges as a therapeutic strategy: the inhibitor K884 enhances STAT3 phosphorylation and promotes myogenic differentiation in Duchenne muscular dystrophy muscle stem cells 4, while the compound farrerol alleviates hepatic insulin resistance and steatosis in metabolic-associated fatty liver disease through PTPN1 inhibition 1. In neuroblastoma, elevated PTPN1 expression associates with metastasis and poor prognosis 5. Genetic studies show PTPN1 variants display modest associations with type 2 diabetes and obesity susceptibility 6, though findings remain inconsistent across populations 7.

Sources cited
1
PTPN1 dephosphorylates insulin receptor; PTPN1 inhibition by farrerol alleviates insulin resistance and hepatic steatosis in MAFLD
PMID: 39289804
2
PTPN1 localizes to ER-PM contact sites and dephosphorylates receptor tyrosine kinases to polarize cell signaling and direct migration
PMID: 38867038
3
Adrenomedullin-mediated PTPN1 activation promotes insulin receptor dephosphorylation in endothelial cells, contributing to obesity-associated insulin resistance
PMID: 39913566
4
PTPN1/2 inhibitor K884 enhances STAT3 phosphorylation and promotes myogenic differentiation in DMD muscle stem cells
PMID: 39477543
5
PTPN1 knockdown increases tyrosine phosphorylation and cell proliferation in neuroblastoma; high PTPN1 expression associates with metastasis and poor prognosis
PMID: 31837707
6
PTPN1 variants show moderate association with type 2 diabetes and obesity; intronic SNPs associate with insulin resistance and dyslipidemia
PMID: 16677372
7
PTPN1 polymorphisms did not show association with type 2 diabetes in Polish population, indicating inconsistent genetic findings
PMID: 17403124
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.53Moderate
Alzheimer diseaseOpen Targets
0.47Moderate
Parkinson diseaseOpen Targets
0.47Moderate
multiple sclerosisOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
mathematical abilityOpen Targets
0.41Moderate
osteoarthritis, kneeOpen Targets
0.33Weak
type 1 diabetes mellitusOpen Targets
0.32Weak
colorectal cancerOpen Targets
0.32Weak
tooth diseaseOpen Targets
0.31Weak
VitiligoOpen Targets
0.30Weak
open-angle glaucomaOpen Targets
0.30Weak
medical procedureOpen Targets
0.29Weak
glaucomaOpen Targets
0.25Weak
multinodular goiterOpen Targets
0.25Weak
colonic neoplasmOpen Targets
0.24Weak
neuroinflammatory disorderOpen Targets
0.23Weak
Peyronie diseaseOpen Targets
0.21Weak
anal neoplasmOpen Targets
0.19Weak
rectal neoplasmOpen Targets
0.19Weak
Pathogenic Variants3
NM_002827.4(PTPN1):c.409_422del (p.Asp137fs)Likely pathogenic
Type 1 interferonopathy of childhood
β˜…β˜†β˜†β˜†2026β†’ Residue 137
NM_002827.4(PTPN1):c.456_460del (p.Tyr153fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 153
NM_002827.4(PTPN1):c.625G>A (p.Gly209Arg)Pathogenic
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 209
View on ClinVar β†—
Related Genes
INSRProtein interaction100%INSRRProtein interaction100%CTNNB1Protein interaction100%PTPN11Protein interaction100%GRB2Protein interaction100%IRS1Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
58%
Brain
52%
Ovary
36%
Heart
34%
Liver
27%
Gene Interaction Network
Click a node to explore
PTPN1INSRINSRRCTNNB1PTPN11GRB2IRS1
PROTEIN STRUCTURE
Preparing viewer…
PDB7MN9 Β· 1.24 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.32Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.19 [0.12–0.32]
RankingsWhere PTPN1 stands among ~20K protein-coding genes
  • #546of 20,598
    Most Researched488 Β· top 5%
  • #3,899of 5,498
    Most Pathogenic Variants3
  • #1,296of 17,882
    Most Constrained (LOEUF)0.32 Β· top 10%
Genes detectedPTPN1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Endothelial insulin resistance induced by adrenomedullin mediates obesity-associated diabetes.
PMID: 39913566
Science Β· 2025
1.00
2
Endoplasmic reticulum-plasma membrane contact gradients direct cell migration.
PMID: 38867038
Nature Β· 2024
0.90
3
Lack of association between polymorphisms in the gene encoding protein tyrosine phosphatase 1B (PTPN1) and risk of Type 2 diabetes.
PMID: 17403124
Diabet Med Β· 2007
0.80
4
A switch from lysosomal degradation to secretory autophagy initiates osteogenic bone metastasis in prostate cancer.
PMID: 39497621
J Extracell Vesicles Β· 2024
0.76
5
Micromanaging Memory.
PMID: 29420952
Biol Psychiatry Β· 2018
0.70