PTPMT1

Protein identityUniProt · HPA

UniProt accession

Q8WUK0

Gene

PTPMT1

Ensembl

ENSG00000110536

Chromosome

11

Canonical length

201 aa

Protein class

Enzymes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

Predicted to enable phosphatidylglycerophosphatase activity and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Involved in regulation of intrinsic apoptotic signaling pathway. Located in nucleus. Is active in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

201 residues, UniProt reviewed canonical sequence.

>Q8WUK0|PTPMT1
     1  MAATALLEAG LARVLFYPTL LYTLFRGKVP GRAHRDWYHR IDPTVLLGAL PLRSLTRQLV
    61  QDENVRGVIT MNEEYETRFL CNSSQEWKRL GVEQLRLSTV DMTGIPTLDN LQKGVQFALK
   121  YQSLGQCVYV HCKAGRSRSA TMVAAYLIQV HKWSPEEAVR AIAKIRSYIH IRPGQLDVLK
   181  EFHKQITARA TKDGTFVISK T

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PTPMT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

49 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PTPMT1.

Disease | AllUniProt

Conditions PTPMT1 is implicated in, by any mechanism.

• Neurodevelopmental disorder with ataxia and brain abnormalities (NEDAXBA) MIM:621199

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 39 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with ataxia and brain abnormalities

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.16

gnomAD pLI

0.01

gnomAD missense Z

0.49

DepMap mean gene effect

-0.55

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiolipin biosynthetic process
• mitochondrial fragmentation involved in apoptotic process
• regulation of intrinsic apoptotic signaling pathway

Molecular functions

• phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
• protein serine/threonine phosphatase activity
• protein tyrosine phosphatase activity
• phosphatidylglycerophosphatase activity
• phosphatidylinositol-5-phosphate phosphatase activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Dual specificity phosphatase, catalytic domain
• Tyrosine-specific protein phosphatases domain
• Protein-tyrosine phosphatase, active site
• Dual specificity protein phosphatase domain
• Protein-tyrosine phosphatase-like
• Dual specificity phosphatase, catalytic domain
• Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1
• Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1-like

KeywordsUniProt

• Hydrolase
• Intellectual disability
• Lipid biosynthesis
• Lipid metabolism
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Phospholipid biosynthesis
• Phospholipid metabolism
• Protein phosphatase
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of PTPMT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• STYXL1