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

Gene ID: 114971, updated on 4-Dec-2022

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
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Genomic context

See PTPMT1 in Genome Data Viewer
Location:
11p11.2
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47565599..47573461)
110 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_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902673 Neighboring gene U6 spliceosomal RNA Neighboring gene receptor associated protein of the synapse Neighboring gene CUGBP Elav-like family member 1 Neighboring gene RNA, 7SL, cytoplasmic 652, pseudogene Neighboring gene RNA, U5E small nuclear 10, pseudogene Neighboring gene kelch repeat and BTB domain containing 4 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: NDUFS3

Homology

Clone Names

  • FLJ46081

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
PubMed 
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
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein tyrosine/serine/threonine 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 protein dephosphorylation IEA
Inferred from Electronic Annotation
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
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in nucleus HDA PubMed 

General protein information

Preferred Names
phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1
Names
NB4 apoptosis/differentiation related protein
PTEN-like phosphatase
phosphoinositide lipid phosphatase
NP_001137456.1
NP_783859.1

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)

  1. NM_001143984.2NP_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:3758
    PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
  2. NM_175732.3NP_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
    Q8WUK0, Q9BXV8
    Related
    ENSP00000325958.9, ENST00000326674.10
    Conserved Domains (1) summary
    cl21483
    Location:40182
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    47565599..47573461
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_019805496.1 Reference GRCh38.p14 PATCHES

    Range
    1..1287
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    47726025..47733883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)