PTPN5 protein tyrosine phosphatase non-receptor type 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTPN5provided by HGNC
Official Full Name: protein tyrosine phosphatase non-receptor type 5provided by HGNC
Primary source: HGNC:HGNC:9657
See related: Ensembl:ENSG00000110786 MIM:176879; AllianceGenome:HGNC:9657
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: STEP; STEP61; PTPSTEP
Summary: Enables phosphotyrosine residue binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within protein dephosphorylation. Predicted to be located in membrane and nucleoplasm. Predicted to be active in cell junction; cytosol; and plasma membrane. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 11.0), testis (RPKM 0.9) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (18727928..18792721, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (18825966..18890761, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (18749475..18814268, complement)

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?

Tyrosine phosphatase STEP61 in human dementia and in animal models with amyloid and tau pathology.
Title: Tyrosine phosphatase STEP(61) in human dementia and in animal models with amyloid and tau pathology.
Inhibition of striatal-enriched protein tyrosine phosphatase (STEP) activity reverses behavioral deficits in a rodent model of autism.
Title: Inhibition of striatal-enriched protein tyrosine phosphatase (STEP) activity reverses behavioral deficits in a rodent model of autism.
PTPN5 promotes follicle-stimulating hormone secretion through regulating intracellular calcium homeostasis.
Title: PTPN5 promotes follicle-stimulating hormone secretion through regulating intracellular calcium homeostasis.
that STEP61 is the molecular brake that is lost following KCC2-dependent disinhibition and that the decrease in STEP61 activity drives the potentiation of excitatory GluN2B NMDAR responses in rodent and human models of pathological pain
Title: Loss of STEP61 couples disinhibition to N-methyl-d-aspartate receptor potentiation in rodent and human spinal pain processing.
validated the functional importance of an identified interaction network by characterizing a distinct novel interaction between PTPN5 and Mob1a.
Title: A Human Tyrosine Phosphatase Interactome Mapped by Proteomic Profiling.
This current study demonstrated that spinal STEP61 regulated LTP of C fiber-evoked field potentials, one of the extensively studied cellular models of central sensitization.
Title: Striatal-enriched phosphatase 61 inhibited the nociceptive plasticity in spinal cord dorsal horn of rats.
a dual role for PSD-95 in stabilizing synaptic NMDARs by binding directly to GluN2B but also by promoting synaptic exclusion and degradation of the negative regulator STEP61.
Title: PSD-95 stabilizes NMDA receptors by inducing the degradation of STEP61.
STEP is involved in the mechanism of depressive disorders and it is a promising molecular target for atypical antidepressant drugs of new generation. (Review)
Title: Striatal-enriched Tyrosine Protein Phosphatase (STEP) in the Mechanisms of Depressive Disorders.
Data suggest that PP5/PTPN5 is overexpressed in liver samples from patients with hepatocellular carcinoma (HCC); overexpression of PP5/PTPN5 appears to correlate with tumor burden/stage. Inhibition of PP5/PTPN5 suppresses proliferation and promotes apoptosis of HCC cells; inhibition of PP5/PTPN5 involves activation of AMPK.
Title: Protein phosphatase 5 promotes hepatocarcinogenesis through interaction with AMP-activated protein kinase.
A rare missense variant in the PTPN5 gene (rs56234898; minor allele frequency 1.5%) was significantly associated with decreased severity of Post-Burn Hypertrophic Scarring(P = 1.3x10-6).
Title: Missense Variant in MAPK Inactivator PTPN5 Is Associated with Decreased Severity of Post-Burn Hypertrophic Scarring.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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

EBI GWAS Catalog

Description
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-32421 (e-PCR)
- UniSTS:63522

A004A23 (e-PCR)
- UniSTS:7501

RH11974 (e-PCR)
- UniSTS:39328

D11S455 (e-PCR)
- UniSTS:148131

D11S1205 (e-PCR)
- UniSTS:36528

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone H2AXY142 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphotyrosine residue binding	IDA Inferred from Direct Assay more info	PubMed
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 tyrosine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine phosphatase activity	TAS Traceable Author Statement more info	PubMed
enables protein tyrosine phosphatase activity, metal-dependent	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in protein dephosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cell junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tyrosine-protein phosphatase non-receptor type 5

Names: neural-specific protein-tyrosine phosphatase; protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched); protein-tyrosine phosphatase striatum-enriched; striatal-enriched protein tyrosine phosphatase; striatum-enriched protein-tyrosine phosphatase

NP_001035059.1

EC 3.1.3.48

NP_001265165.1

EC 3.1.3.48

NP_001265167.1

EC 3.1.3.48

NP_001265168.1

EC 3.1.3.48

NP_008837.1

EC 3.1.3.48

NP_116170.3

EC 3.1.3.48

XP_016873923.1

EC 3.1.3.48

XP_016873924.1

EC 3.1.3.48

XP_016873925.1

EC 3.1.3.48

XP_016873926.1

EC 3.1.3.48

XP_016873927.1

EC 3.1.3.48

XP_016873928.1

EC 3.1.3.48

XP_054226212.1

EC 3.1.3.48

XP_054226213.1

EC 3.1.3.48

XP_054226214.1

EC 3.1.3.48

XP_054226215.1

EC 3.1.3.48

XP_054226216.1

EC 3.1.3.48

XP_054226217.1

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_001039970.2 → NP_001035059.1 tyrosine-protein phosphatase non-receptor type 5 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a.

Source sequence(s)

AK127312, AL832541, BC046435

Consensus CDS

CCDS41626.1

UniProtKB/TrEMBL

B7Z2F8

Conserved Domains (2) summary

smart00194
Location:267 → 520

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:293 → 520

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_001278236.1 → NP_001265165.1 tyrosine-protein phosphatase non-receptor type 5 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a. Variants 3 and 4 encode the same isoform b.

Source sequence(s)

AK127312, AL832541, BC046435

Consensus CDS

CCDS41626.1

UniProtKB/TrEMBL

B7Z2F8

Related

ENSP00000379473.1, ENST00000396170.5

Conserved Domains (2) summary

smart00194
Location:267 → 520

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:293 → 520

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_001278238.2 → NP_001265167.1 tyrosine-protein phosphatase non-receptor type 5 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an internal exon in the 5' region which causes translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-teminus, compared to isoform a.

Source sequence(s)

AK127312, AK295604, AL832541, BC046435

Consensus CDS

CCDS60746.1

UniProtKB/TrEMBL

B7Z2F8

Related

ENSP00000379471.1, ENST00000396168.1

Conserved Domains (2) summary

smart00194
Location:275 → 528

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:301 → 528

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_001278239.2 → NP_001265168.1 tyrosine-protein phosphatase non-receptor type 5 isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (6) lacks an internal exon in the 5' region which causes translation initiation at a downstream start codon, and also has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (d) has a shorter N-terminus and lacks an internal segment, compared to isoform a.

Source sequence(s)

AK294673, AL832541, BC046435, BC064807

UniProtKB/TrEMBL

B7Z2F8

Conserved Domains (2) summary

smart00194
Location:243 → 496

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:269 → 496

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_006906.2 → NP_008837.1 tyrosine-protein phosphatase non-receptor type 5 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) and variant 2 encode the same longest isoform (a).

Source sequence(s)

AL832541, BC046435, BC064807

Consensus CDS

CCDS7845.1

UniProtKB/Swiss-Prot

B3KXG7, B7Z386, B7ZAF5, D3DQY7, P54829, Q6P1Z2, Q8N2A1, Q8NDP8

UniProtKB/TrEMBL

Q86TL6

Related

ENSP00000351342.2, ENST00000358540.7

Conserved Domains (1) summary

smart00194
Location:299 → 552

PTPc; Protein tyrosine phosphatase, catalytic domain
NM_032781.4 → NP_116170.3 tyrosine-protein phosphatase non-receptor type 5 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform a.

Source sequence(s)

AK127312, BC046435, BC064807

Consensus CDS

CCDS7845.1

UniProtKB/Swiss-Prot

B3KXG7, B7Z386, B7ZAF5, D3DQY7, P54829, Q6P1Z2, Q8N2A1, Q8NDP8

UniProtKB/TrEMBL

Q86TL6

Conserved Domains (1) summary

smart00194
Location:299 → 552

PTPc; Protein tyrosine phosphatase, catalytic domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

18727928..18792721 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017018439.2 → XP_016873928.1 tyrosine-protein phosphatase non-receptor type 5 isoform X5
XM_017018436.2 → XP_016873925.1 tyrosine-protein phosphatase non-receptor type 5 isoform X2
XM_017018435.3 → XP_016873924.1 tyrosine-protein phosphatase non-receptor type 5 isoform X1
XM_017018437.2 → XP_016873926.1 tyrosine-protein phosphatase non-receptor type 5 isoform X3
XM_017018434.3 → XP_016873923.1 tyrosine-protein phosphatase non-receptor type 5 isoform X1
XM_017018438.3 → XP_016873927.1 tyrosine-protein phosphatase non-receptor type 5 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

18825966..18890761 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054370242.1 → XP_054226217.1 tyrosine-protein phosphatase non-receptor type 5 isoform X5
XM_054370239.1 → XP_054226214.1 tyrosine-protein phosphatase non-receptor type 5 isoform X2
XM_054370238.1 → XP_054226213.1 tyrosine-protein phosphatase non-receptor type 5 isoform X1
XM_054370240.1 → XP_054226215.1 tyrosine-protein phosphatase non-receptor type 5 isoform X3
XM_054370237.1 → XP_054226212.1 tyrosine-protein phosphatase non-receptor type 5 isoform X1
XM_054370241.1 → XP_054226216.1 tyrosine-protein phosphatase non-receptor type 5 isoform X4