PTPMT1
entrez
114971
canonical
uniprot
Q8WUK0
canonical
ensembl
ENSG00000110536
resolver
ensp
ENSP00000325958
resolver
ensp
ENSP00000410272
resolver
genesymbol
PTPMT1
resolver
genesymbol_syn
MOSP
resolver
genesymbol_syn
PLIP
resolver
hgnc
HGNC:26965
resolver
uniprot
E9PAT8
resolver
uniprot
Q7Z557
resolver
uniprot
Q96CR2
resolver
uniprot
Q9BXV8
resolver
uniprot_entry
PTPM1_HUMAN
resolver
uniprot_sec
E9PAT8
resolver
uniprot_sec
Q7Z557
resolver
uniprot_sec
Q96CR2
resolver
uniprot_sec
Q9BXV8
resolver
amino_acid_sequence
MAATALLEAGLARVLFYPTLLYTLFRGKVPGRAHRDWYHRIDPTVLLGALPLRSLTRQLVQDENVRGVITMNEEYETRFLCNSSQEWKRLGVEQLRLSTVDMTGIPTLDNLQKGVQFALKYQSLGQCVYVHCKAGRSRSATMVAAYLIQVHKWSPEEAVRAIAKIRSYIHIRPGQLDVLKEFHKQITARATKDGTFVISKT
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with ataxia and brain abnormalities (NEDAXBA) [MIM:621199]: An autosomal recessive neurodevelopmental disorder with neonatal or infantile onset, and characterized by developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy and bulbar dysfunction. Brain imaging reveals a variable combination of corpus callosum thinning, cerebellar atrophy and white matter changes. {ECO:0000269|PubMed:39279645}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.16
uniprot
proteins
ec_number
3.1.3.27
uniprot
proteins
ec_number
3.1.3.48
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:P0C089, ECO:0000250|UniProtKB:Q66GT5, ECO:0000269|PubMed:24709986, ECO:0000269|PubMed:39279645}.
uniprot
proteins
mass_dalton
22844
uniprot
proteins
mutagenesis
MUTAGEN 132; /note="C->S: Probable loss of catalytic activity. Does not affect interaction with STYXL1."; /evidence="ECO:0000269|PubMed:24709986
uniprot
proteins
pathway_participation
PATHWAY: Phospholipid metabolism; phosphatidylglycerol biosynthesis; phosphatidylglycerol from CDP-diacylglycerol: step 2/2. {ECO:0000250|UniProtKB:Q66GT5}.
uniprot
proteins
protein_family
Non-receptor class dual specificity subfamily
uniprot
proteins
protein_family
Protein-tyrosine phosphatase family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24709986
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
39279645
uniprot
proteins
sequence_length
201
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P0C089}; Peripheral membrane protein {ECO:0000250|UniProtKB:P0C089}; Matrix side {ECO:0000250|UniProtKB:P0C089}.
uniprot
proteins