Hs05523651_cn

• Gene Symbol: PTPN1
• Assay Reference Genome Location: Chr.20:50512571 on build GRCh38
• Cytoband: 20q13.13

Target Gene Details

• Entrez Gene ID: 5770
• Gene Name: protein tyrosine phosphatase, non-receptor type 1
• Gene Aliases: PTP1B
• Location: Chr.20:50510321-50584762 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTPN1	NM_001278618.1			NP_001265547.1
	NM_002827.3			NP_002818.1
	AK290638.1
	AK299830.1
	AK316563.1
	AU117677.1
	BC015660.2			AAH15660.1
	BC018164.1			AAH18164.1
	BT006752.1			AAP35398.1
	DC300354.1
	M31724.1			AAA60223.1
	M33689.1			AAA60157.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv4324n100	Chr.20:50512568 - 50535619 on Build GRCh38	Gain	PTPN1
dgv163n111	Chr.20:50509110 - 50534089 on Build GRCh38	Duplication	PTPN1
nsv586177	Chr.20:50358658 - 50546698 on Build GRCh38	Gain	PTPN1
esv2760682	Chr.20:50493794 - 50535631 on Build GRCh38	Gain	PTPN1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protein phosphatase

Gene Ontology Categories:

Process(es)

protein dephosphorylation
activation of signaling protein activity involved in unfolded protein response
activation of JUN kinase activity
insulin receptor signaling pathway
regulation of signal transduction
negative regulation of signal transduction
regulation of endocytosis
negative regulation of vascular endothelial growth factor receptor signaling pathway
endoplasmic reticulum unfolded protein response
actin cytoskeleton reorganization
regulation of intracellular protein transport
peptidyl-tyrosine dephosphorylation
platelet-derived growth factor receptor-beta signaling pathway
IRE1-mediated unfolded protein response
negative regulation of MAP kinase activity
negative regulation of insulin receptor signaling pathway
regulation of type I interferon-mediated signaling pathway
JAK-STAT cascade involved in growth hormone signaling pathway
positive regulation of protein tyrosine kinase activity
negative regulation of ERK1 and ERK2 cascade
cell-cell adhesion
regulation of hepatocyte growth factor receptor signaling pathway
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
positive regulation of IRE1-mediated unfolded protein response
negative regulation of PERK-mediated unfolded protein response
peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity
positive regulation of receptor catabolic process

Function(s)

protein tyrosine phosphatase activity
insulin receptor binding
protein binding
zinc ion binding
enzyme binding
protein kinase binding
receptor tyrosine kinase binding
poly(A) RNA binding
ephrin receptor binding
protein phosphatase 2A binding
cadherin binding involved in cell-cell adhesion