PTPN1 protein tyrosine phosphatase non-receptor type 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTPN1provided by HGNC
Official Full Name: protein tyrosine phosphatase non-receptor type 1provided by HGNC
Primary source: HGNC:HGNC:9642
See related: Ensembl:ENSG00000196396 MIM:176885; AllianceGenome:HGNC:9642
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PTP1B
Summary: The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in lymph node (RPKM 30.4), appendix (RPKM 29.5) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 20q13.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (50510383..50585241)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (52280015..52354899)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (49126920..49201778)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PTP1B mediates the inhibitory effect of MFGE8 on insulin signaling through the beta5 integrin.
Title: PTP1B mediates the inhibitory effect of MFGE8 on insulin signaling through the β5 integrin.
High-resolution double vision of the allosteric phosphatase PTP1B.
Title: High-resolution double vision of the allosteric phosphatase PTP1B.
Protein tyrosine phosphatase 1B is a regulator of alpha-actinin4 in the glomerular podocyte.
Title: Protein tyrosine phosphatase 1B is a regulator of alpha-actinin4 in the glomerular podocyte.
Association between PTPN1 polymorphisms and obesity-related phenotypes in European adolescents: influence of physical activity.
Title: Association between PTPN1 polymorphisms and obesity-related phenotypes in European adolescents: influence of physical activity.
A Conserved Local Structural Motif Controls the Kinetics of PTP1B Catalysis.
Title: A Conserved Local Structural Motif Controls the Kinetics of PTP1B Catalysis.
PTPN1 Deficiency Modulates BMPR2 Signaling and Induces Endothelial Dysfunction in Pulmonary Arterial Hypertension.
Title: PTPN1 Deficiency Modulates BMPR2 Signaling and Induces Endothelial Dysfunction in Pulmonary Arterial Hypertension.
Computational analysis of PTP-1B site-directed mutations and their structural binding to potential inhibitors.
Title: Computational analysis of PTP-1B site-directed mutations and their structural binding to potential inhibitors.
The role of PTP1B (PTPN1) in the prognosis of solid tumors: A meta-analysis.
Title: The role of PTP1B (PTPN1) in the prognosis of solid tumors: A meta-analysis.
Biochemical, Enzymatic, and Computational Characterization of Recurrent Somatic Mutations of the Human Protein Tyrosine Phosphatase PTP1B in Primary Mediastinal B Cell Lymphoma.
Title: Biochemical, Enzymatic, and Computational Characterization of Recurrent Somatic Mutations of the Human Protein Tyrosine Phosphatase PTP1B in Primary Mediastinal B Cell Lymphoma.
ETS proto-oncogene 1 modulates PTP1B expression to participate in high glucose-mediated endothelial inflammation.
Title: ETS proto-oncogene 1 modulates PTP1B expression to participate in high glucose-mediated endothelial inflammation.

Submit: New GeneRIF Correction See all GeneRIFs (255)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Type II diabetes mellitus MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH45266 (e-PCR)
- UniSTS:26624

AL034534 (e-PCR)
- UniSTS:94240

RH11093 (e-PCR)
- UniSTS:66138

PTPN1_1850 (e-PCR)
- UniSTS:280940

STS-M31724 (e-PCR)
- UniSTS:12715

PMC117295P1 (e-PCR)
- UniSTS:270324

PMC117295P2 (e-PCR)
- UniSTS:270325

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables ephrin receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables insulin receptor binding	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase 2A binding	IEA Inferred from Electronic Annotation more info
enables protein tyrosine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine phosphatase activity	TAS Traceable Author Statement more info
enables receptor tyrosine kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in IRE1-mediated unfolded protein response	ISS Inferred from Sequence or Structural Similarity more info
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to unfolded protein	TAS Traceable Author Statement more info	PubMed
involved_in endoplasmic reticulum unfolded protein response	IDA Inferred from Direct Assay more info	PubMed
involved_in growth hormone receptor signaling pathway via JAK-STAT	TAS Traceable Author Statement more info
involved_in insulin receptor recycling	IEA Inferred from Electronic Annotation more info
involved_in insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ERK1 and ERK2 cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of MAP kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of PERK-mediated unfolded protein response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of PERK-mediated unfolded protein response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of insulin receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of signal transduction	TAS Traceable Author Statement more info
involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in peptidyl-tyrosine dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptidyl-tyrosine dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-tyrosine dephosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet-derived growth factor receptor-beta signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of IRE1-mediated unfolded protein response	TAS Traceable Author Statement more info	PubMed
acts_upstream_of positive regulation of JUN kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of receptor catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein dephosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of hepatocyte growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of type I interferon-mediated signaling pathway	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic side of endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endosome lumen	IEA Inferred from Electronic Annotation more info
located_in mitochondrial crista	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
colocalizes_with plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in sorting endosome	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: tyrosine-protein phosphatase non-receptor type 1

Names: protein tyrosine phosphatase, placental; protein-tyrosine phosphatase 1B

NP_001265547.1

EC 3.1.3.48

NP_002818.1

EC 3.1.3.48

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_012119.2 RefSeqGene

Range

5030..79888

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278618.2 → NP_001265547.1 tyrosine-protein phosphatase non-receptor type 1 isoform 2

See identical proteins and their annotated locations for NP_001265547.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AI474453, AK299830, AL133230, BC015660, DB332370

Consensus CDS

CCDS63309.1

UniProtKB/TrEMBL

B4DSN5

Related

ENSP00000437732.1, ENST00000541713.5

Conserved Domains (1) summary

cd00047
Location:1 → 203

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 ...
NM_002827.4 → NP_002818.1 tyrosine-protein phosphatase non-receptor type 1 isoform 1

See identical proteins and their annotated locations for NP_002818.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AI474453, AL133230, BC015660, DB332370, DC300354

Consensus CDS

CCDS13430.1

UniProtKB/Swiss-Prot

P18031, Q5TGD8, Q9BQV9, Q9NQQ4

UniProtKB/TrEMBL

A8K3M3

Related

ENSP00000360683.3, ENST00000371621.5

Conserved Domains (1) summary

smart00194
Location:3 → 276

PTPc; Protein tyrosine phosphatase, catalytic domain