PTPMT1

Chr 11p11.2

protein tyrosine phosphatase mitochondrial 1

Aliases:: PLIP, DUSP23, MOSP
MANE:: ENST00000326674.10

OMIM: 609538 ↗NCBI: 114971 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PTPMT1 · Q8WUK0

v62025-08-01

Predicted Aligned Error matrix for PTPMT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.5/ 100

Very high

201 residues

Confidence breakdown

Very high(≥ 90)71%
Confident(70–90)25%
Low(50–70)3%
Very low(< 50)2%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.54
neurodevelopmental disorder with ataxia and brain abnormalities
0.33
neurodevelopmental disorder
0.28
hypertrophic cardiomyopathy
0.17
Hypercholesterolemia
0.11
open-angle glaucoma
0.11
glaucoma
0.11
hypertensive disorder
0.09
cancer
0.09
coronary artery disorder
0.07

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

Protein function (UniProt)

Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1

Lipid phosphatase which dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG) (By similarity). PGP is an essential intermediate in the biosynthetic pathway of cardiolipin, a mitochondrial-specific phospholipid regulating the membrane integrity and activities of the organelle (PubMed:39279645). Has also been shown to display phosphatase activity toward phosphoprotein substrates, specifically mediates dephosphorylation of mitochondrial proteins, thereby playing an essential role in ATP production (By similarity). Has probably a preference for proteins phosphorylated on Ser and/or Thr residues compared to proteins phosphorylated on Tyr residues (By similarity). Probably involved in regulation of insulin secretion in pancreatic beta cells (By similarity). Prevents intrinsic apoptosis, by regulating mitochondrial membrane integrity (PubMed:24709986, PubMed:39279645)