PTPN1

Chr 20q13.13

protein tyrosine phosphatase non-receptor type 1

MANE:: ENST00000371621.5

OMIM: 176885 ↗NCBI: 5770 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PTPN1 · P18031

v62025-08-01

Predicted Aligned Error matrix for PTPN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.3/ 100

Confident

435 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)8%
Low(50–70)2%
Very low(< 50)23%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Autoinflammatory disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodegenerative disease
0.53
Alzheimer disease
0.47
Parkinson disease
0.47
multiple sclerosis
0.46
lysosomal storage disease
0.46
hypothyroidism
0.40
mathematical ability
0.38
colorectal cancer
0.31
tooth disorder
0.31
type 1 diabetes mellitus
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tyrosine-protein phosphatase non-receptor type 1

Tyrosine-protein phosphatase which acts as a regulator of endoplasmic reticulum unfolded protein response. Mediates dephosphorylation of EIF2AK3/PERK; inactivating the protein kinase activity of EIF2AK3/PERK. May play an important role in CKII- and p60c-src-induced signal transduction cascades. May regulate the EFNA5-EPHA3 signaling pathway which modulates cell reorganization and cell-cell repulsion. May also regulate the hepatocyte growth factor receptor signaling pathway through dephosphorylation of MET

Curated MONDO disease pages that list PTPN1 among their top associated genes.

tooth disorderRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with PTPN1