PTPMT1 protein tyrosine phosphatase mitochondrial 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTPMT1provided by HGNC
Official Full Name: protein tyrosine phosphatase mitochondrial 1provided by HGNC
Primary source: HGNC:HGNC:26965
See related: Ensembl:ENSG00000110536 MIM:609538; AllianceGenome:HGNC:26965
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MOSP; PLIP; DUSP23; PNAS-129
Summary: Predicted to enable phosphatidylglycerophosphatase activity and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Involved in regulation of intrinsic apoptotic signaling pathway. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 16.1), brain (RPKM 11.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (47565599..47573461)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (47726025..47733883)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (47587151..47595013)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genome-wide CRISPR-Cas9 knockout library screening identified PTPMT1 in cardiolipin synthesis is crucial to survival in hypoxia in liver cancer.
Title: Genome-wide CRISPR-Cas9 knockout library screening identified PTPMT1 in cardiolipin synthesis is crucial to survival in hypoxia in liver cancer.
Splicing factor SRSF1 promotes breast cancer progression via oncogenic splice switching of PTPMT1.
Title: Splicing factor SRSF1 promotes breast cancer progression via oncogenic splice switching of PTPMT1.
SRSF1 regulates lung cancer cell radioresistance through modulating PTPMT1 splicing. Reduced SRSF1 favors the production of short isoforms of PTPMT1 upon ionizing radiation, which in turn promotes phosphorylation of AMPK, thereby inducing DNA double-strand break to sensitize cancer cells to irradiation.
Title: SRSF1 modulates PTPMT1 alternative splicing to regulate lung cancer cell radioresistance.
A key role for HIF-2alpha-induced Ptpmt1 up-regulation in proliferation, survival and glucose metabolism of erythroleukemia cells.
Title: Ptpmt1 induced by HIF-2α regulates the proliferation and glucose metabolism in erythroleukemia cells.
our data support a model in which MK-STYX controls apoptosis by negatively regulating PTPMT1.
Title: The pseudophosphatase MK-STYX physically and genetically interacts with the mitochondrial phosphatase PTPMT1.
Our data suggest that inhibition of PTPMT1 causes a metabolic crisis in cancer cells that induces cell death, and may be a mechanism by which cancer cells can be sensitized to currently available therapies.
Title: Downregulation of the mitochondrial phosphatase PTPMT1 is sufficient to promote cancer cell death.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH121093 (e-PCR)
- UniSTS:132380

RH47256 (e-PCR)
- UniSTS:32482

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables myosin phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylglycerophosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylglycerophosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cardiolipin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of intrinsic apoptotic signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1

Names: NB4 apoptosis/differentiation related protein; PTEN-like phosphatase; phosphoinositide lipid phosphatase

NP_001137456.1

EC 3.1.3.16

EC 3.1.3.27

EC 3.1.3.48

NP_783859.1

EC 3.1.3.16

EC 3.1.3.27

EC 3.1.3.48

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001143984.2 → NP_001137456.1 phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 isoform 2

See identical proteins and their annotated locations for NP_001137456.1

Status: VALIDATED

Description

Transcript Variant: This variant (2)reads through an intron and omits an exon, compared to variant 1. This results in a frameshift and a predicted protein with a distinct C-terminus (isoform 2).

Source sequence(s)

AC104942, BC014048, BC073798, BM702054, BM750411

Consensus CDS

CCDS44593.1

UniProtKB/Swiss-Prot

Q8WUK0

Related

ENSP00000410272.2, ENST00000426530.2

Conserved Domains (1) summary

cl28904
Location:37 → 58

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
NM_175732.3 → NP_783859.1 phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 isoform 1

See identical proteins and their annotated locations for NP_783859.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) is the longer transcript.

Source sequence(s)

AC104942, BC014048, BC020242, BC073798, DR004030

Consensus CDS

CCDS41643.1

UniProtKB/Swiss-Prot

E9PAT8, Q7Z557, Q8WUK0, Q96CR2, Q9BXV8

Related

ENSP00000325958.9, ENST00000326674.10

Conserved Domains (1) summary

cl21483
Location:40 → 182

PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...