PTPRU protein tyrosine phosphatase receptor type U [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTPRUprovided by HGNC
Official Full Name: protein tyrosine phosphatase receptor type Uprovided by HGNC
Primary source: HGNC:HGNC:9683
See related: Ensembl:ENSG00000060656 MIM:602454; AllianceGenome:HGNC:9683
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: FMI; PTP; PCP-2; PTP-J; PTPRO; PTPU2; PTP-PI; PTP-RO; PTPPSI; hPTP-J; R-PTP-U; R-PTP-PSI
Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. 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 possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]
Expression: Broad expression in placenta (RPKM 9.6), lung (RPKM 7.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p35.3

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (29236522..29326800)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (29079179..29169454)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (29563034..29653312)

Chromosome 1 - NC_000001.11 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?

PTPRU, a quiescence-induced receptor tyrosine phosphatase negatively regulates osteogenic differentiation of human mesenchymal stem cells.
Title: PTPRU, a quiescence-induced receptor tyrosine phosphatase negatively regulates osteogenic differentiation of human mesenchymal stem cells.
The receptor PTPRU is a redox sensitive pseudophosphatase.
Title: The receptor PTPRU is a redox sensitive pseudophosphatase.
Transwell and wound-healing assays showed that miR-574-5p promotes the migration and invasion of NSCLC cells. Furthermore, miR-574-5p enhanced the tyrosine phosphorylation of beta-catenin by repressing PTPRU expression in vitro.
Title: MicroRNA-574-5p promotes metastasis of non-small cell lung cancer by targeting PTPRU.
PTPRU is required for gastric cancer cell proliferation and migration.
Title: Knockdown of protein tyrosine phosphatase receptor U inhibits growth and motility of gastric cancer cells.
High PTPRU expression is associated with glioma growth and motility.
Title: Protein tyrosine phosphatase receptor U (PTPRU) is required for glioma growth and motility.
Gene expression of GLEPP-1 is decreased in podocytes from women with preeclampsia.
Title: Decreased nephrin and GLEPP-1, but increased VEGF, Flt-1, and nitrotyrosine, expressions in kidney tissue sections from women with preeclampsia.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Expressed in a cell density-dependent fashion, PCP-2 interacts directly with its substrate beta-catenin, independent of the tyrosine phosphorylation state of beta-catenin.
Title: Physical and functional interaction between receptor-like protein tyrosine phosphatase PCP-2 and beta-catenin.
PCP-2 may play an important role in the maintenance of epithelial integrity, and a loss of its regulatory function may be an alternative mechanism for activating beta-catenin signaling.
Title: Protein-tyrosine phosphatase PCP-2 inhibits beta-catenin signaling and increases E-cadherin-dependent cell adhesion.
Reduced expression of both synaptopodin and GLEPP1 is associated with poor response to steroid therapy in primary focal segmental glomerulosclerosis.
Title: Expression of synaptopodin and GLEPP1 as markers of steroid responsiveness in primary focal segmental glomerulosclerosis.

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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

EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of protein tyrosine phosphatase, receptor type U (PTPRU) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2653 (e-PCR)
- UniSTS:17473

RH120229 (e-PCR)
- UniSTS:132687

G63405 (e-PCR)
- UniSTS:140369

HSC05H092 (e-PCR)
- UniSTS:52836

PTPRU_2553 (e-PCR)
- UniSTS:280946

D1S1447 (e-PCR)
- UniSTS:149643

G19916 (e-PCR)
- UniSTS:15578

A002C06 (e-PCR)
- UniSTS:15579

RH118710 (e-PCR)
- UniSTS:109296

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transmembrane receptor protein tyrosine phosphatase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor protein tyrosine phosphatase signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in homotypic cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell-cell adhesion mediated by cadherin	IDA Inferred from Direct Assay more info	PubMed
involved_in protein dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to cell surface	IDA Inferred from Direct Assay more info	PubMed
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: receptor-type tyrosine-protein phosphatase U

Names: PTP pi; Receptor protein tyrosine phosphatase hPTP-J; pancreatic carcinoma phosphatase 2; pi R-PTP-Psi; protein-tyrosine phosphatase J; protein-tyrosine phosphatase pi; protein-tyrosine phosphatase receptor omicron; receptor-type protein-tyrosine phosphatase psi

NP_001181930.1

EC 3.1.3.48

NP_005695.3

EC 3.1.3.48

NP_573438.3

EC 3.1.3.48

NP_573439.2

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.

Genomic

NG_033965.1 RefSeqGene

Range

5007..95285

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001195001.2 → NP_001181930.1 receptor-type tyrosine-protein phosphatase U isoform 4 precursor

See identical proteins and their annotated locations for NP_001181930.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter than isoform 3.

Source sequence(s)

BC033131, BC146655, U73727, X97198

Consensus CDS

CCDS53290.1

UniProtKB/Swiss-Prot

Q92729

Related

ENSP00000392332.2, ENST00000428026.6

Conserved Domains (4) summary

smart00137
Location:22 → 186

MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)

cd00047
Location:913 → 1130

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 ...

cd00063
Location:386 → 481

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:494 → 577

fn3; Fibronectin type III domain
NM_005704.5 → NP_005695.3 receptor-type tyrosine-protein phosphatase U isoform 3 precursor

See identical proteins and their annotated locations for NP_005695.3

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).

Source sequence(s)

BC033131, BC146655, U73727, X95712, X97198

Consensus CDS

CCDS334.1

UniProtKB/Swiss-Prot

A6H8L1, O00197, P78399, Q59HA4, Q5SYU4, Q5SYU5, Q92729, Q92735, Q92850

Related

ENSP00000334941.5, ENST00000345512.7

Conserved Domains (7) summary

cd06263
Location:27 → 186

MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...

smart00137
Location:22 → 186

MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)

smart00194
Location:1175 → 1438

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:923 → 1143

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 ...

cd00063
Location:484 → 585

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:291 → 366

fn3; Fibronectin type III domain

pfam00102
Location:918 → 1143

Y_phosphatase; Protein-tyrosine phosphatase
NM_133177.4 → NP_573438.3 receptor-type tyrosine-protein phosphatase U isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, contains an alternate in-frame exon, and uses an alternate, in-frame splice site compared to variant 3. The resulting isoform (2) has the same N- and C-termini but is 6 aa shorter than isoform 3.

Source sequence(s)

BC033131, BC146655, U71075, U73727, X97198

Consensus CDS

CCDS44098.2

UniProtKB/Swiss-Prot

Q92729

Related

ENSP00000432906.1, ENST00000460170.2

Conserved Domains (7) summary

cd06263
Location:27 → 186

MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...

smart00137
Location:22 → 186

MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)

smart00194
Location:1171 → 1432

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:913 → 1139

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 ...

cd00063
Location:484 → 585

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:291 → 366

fn3; Fibronectin type III domain

pfam00102
Location:908 → 1139

Y_phosphatase; Protein-tyrosine phosphatase
NM_133178.4 → NP_573439.2 receptor-type tyrosine-protein phosphatase U isoform 1 precursor

See identical proteins and their annotated locations for NP_573439.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is 10 aa shorter than isoform 3.

Source sequence(s)

BC146655, U73727, X97198

Consensus CDS

CCDS335.1

UniProtKB/Swiss-Prot

Q92729

Related

ENSP00000362884.3, ENST00000373779.8

Conserved Domains (7) summary

cd06263
Location:27 → 186

MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...

smart00137
Location:22 → 186

MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)

smart00194
Location:1165 → 1428

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:913 → 1133

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 ...

cd00063
Location:484 → 585

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:291 → 366

fn3; Fibronectin type III domain

pfam00102
Location:908 → 1133

Y_phosphatase; Protein-tyrosine phosphatase