PTPRJ protein tyrosine phosphatase receptor type J [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTPRJprovided by HGNC
Official Full Name: protein tyrosine phosphatase receptor type Jprovided by HGNC
Primary source: HGNC:HGNC:9673
See related: Ensembl:ENSG00000149177 MIM:600925; AllianceGenome:HGNC:9673
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: DEP1; SCC1; CD148; THC10; HPTPeta; R-PTP-J; HPTP eta; R-PTP-ETA
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 containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in thyroid (RPKM 11.4), appendix (RPKM 10.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (47980559..48170839)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (48150119..48340376)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (48002111..48192391)

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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phagocytosis mediated by the human granulocyte receptor CEACAM3 is limited by the receptor-type protein tyrosine phosphatase PTPRJ.
Title: Phagocytosis mediated by the human granulocyte receptor CEACAM3 is limited by the receptor-type protein tyrosine phosphatase PTPRJ.
The effects of CD148 Q276P/R326Q polymorphisms in A431D epidermoid cancer cell proliferation and epidermal growth factor receptor signaling.
Title: The effects of CD148 Q276P/R326Q polymorphisms in A431D epidermoid cancer cell proliferation and epidermal growth factor receptor signaling.
PTPRJ is downregulated in cervical squamous cell carcinoma.
Title: PTPRJ is downregulated in cervical squamous cell carcinoma.
The relative expression levels of CD148 and CD180 on clonal B cells and CD148/CD180 median fluorescence intensity ratios are useful in the characterization of mature B cell lymphoid neoplasms infiltrating blood and bone marrow - Results from a single centre pilot study.
Title: The relative expression levels of CD148 and CD180 on clonal B cells and CD148/CD180 median fluorescence intensity ratios are useful in the characterization of mature B cell lymphoid neoplasms infiltrating blood and bone marrow - Results from a single centre pilot study.
CD148 Deficiency in Fibroblasts Promotes the Development of Pulmonary Fibrosis.
Title: CD148 Deficiency in Fibroblasts Promotes the Development of Pulmonary Fibrosis.
Loss of PTPRJ/DEP-1 enhances NF2/Merlin-dependent meningioma development.
Title: Loss of PTPRJ/DEP-1 enhances NF2/Merlin-dependent meningioma development.
Loss-of-function mutations in PTPRJ gene is associated with a new form of inherited thrombocytopenia.
Title: Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
results support a scenario by which T cell-derived microvesicles act as intercellular carriers of functional miR-4443, which might exert heterotypic regulation of PTPRJ gene expression in mast cells
Title: MicroRNA-4443 regulates mast cell activation by T cell-derived microvesicles.
Arg326Gln polymorphism is associated with colorectal cancer.
Title: Meta-analysis of association between Arg326Gln (rs1503185) and Gln276Pro (rs1566734) polymorphisms of PTPRJ gene and cancer risk.
PTPRJ variant of uncertain significance in candidate gene was identified in Familial Mitral Valve Prolapse.
Title: Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family.

Submit: New GeneRIF Correction See all GeneRIFs (64)

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

Associated conditions

Description	Tests
Colorectal cancer MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome	not available
Thrombocytopenia 10 MedGen: C5882682 OMIM: 620484 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic predictors of fibrin D-dimer levels in healthy adults. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. 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 J (PTPRJ) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The expression of protein tyrosine phosphatase, receptor type, J (PTPRJ; CD148) gene is upregulated in both Jurkat-Tat101 and Jurkat-Tat72 cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S4682 (e-PCR)
- UniSTS:28164

RH17993 (e-PCR)
- UniSTS:87579

RH79671 (e-PCR)
- UniSTS:89133

D11S1225 (e-PCR)
- UniSTS:73521

PMC151692P1 (e-PCR)
- UniSTS:271164

D11S1350 (e-PCR), detects polymorphism
- UniSTS:28736

D11S1784 (e-PCR), detects polymorphism
- UniSTS:13636

PTPRJ_2541 (e-PCR)
- UniSTS:280945

RH45248 (e-PCR)
- UniSTS:92047

SHGC-34210 (e-PCR)
- UniSTS:26264

SHGC-17236 (e-PCR)
- UniSTS:925

D11S4544 (e-PCR)
- UniSTS:37533

WI-18182 (e-PCR)
- UniSTS:35523

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables cadherin binding	IPI Inferred from Physical Interaction more info	PubMed
enables delta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables gamma-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone H2AXY142 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables mitogen-activated protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables non-membrane spanning protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables platelet-derived growth factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase 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 protein tyrosine phosphatase activity	TAS Traceable Author Statement more info
enables protein tyrosine phosphatase activity, metal-dependent	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in T cell receptor signaling pathway	TAS Traceable Author Statement more info
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in contact inhibition	NAS Non-traceable Author Statement more info	PubMed
involved_in cytokine-mediated signaling pathway	TAS Traceable Author Statement more info
involved_in glucose homeostasis	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of T cell receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of T cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell growth	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 negative regulation of epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of platelet-derived growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of vascular permeability	IDA Inferred from Direct Assay more info	PubMed
involved_in oligodendrocyte differentiation	IEA Inferred from Electronic Annotation 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 platelet formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet-derived growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of Fc receptor mediated stimulatory signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of calcium-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of focal adhesion assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of macrophage chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phagocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of platelet activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tumor necrosis factor production	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in immunological synapse	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info
located_in specific granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: receptor-type tyrosine-protein phosphatase eta

Names: CD148 antigen; density-enhanced phosphatase 1; human density enhanced phosphatase-1; protein tyrosine phosphatase, receptor type, J polypeptide; protein-tyrosine phosphatase eta; susceptibility to colon cancer 1, mouse, homolog of

NP_001091973.1

EC 3.1.3.48

NP_002834.3

EC 3.1.3.48

XP_016873574.1

EC 3.1.3.48

XP_047283330.1

EC 3.1.3.48

XP_054225534.1

EC 3.1.3.48

XP_054225535.1

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.

Genomic

NG_012209.1 RefSeqGene

Range

5002..195282

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001098503.2 → NP_001091973.1 receptor-type tyrosine-protein phosphatase eta isoform 2 precursor

See identical proteins and their annotated locations for NP_001091973.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has multiple differences in the presence and absence of exons at its 3' end, compared to variant 1. These differences produce a unique 3' UTR, compared to variant 1, and the encoded protein (isoform 2) is shorter than isoform 1.

Source sequence(s)

AC026975, BC063417, BC098447, DR007037

Consensus CDS

CCDS44596.1

UniProtKB/Swiss-Prot

Q12913

Related

ENSP00000409733.2, ENST00000440289.6

Conserved Domains (2) summary

smart00060
Location:454 → 526

FN3; Fibronectin type 3 domain

cd00063
Location:119 → 205

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 ...
NM_002843.4 → NP_002834.3 receptor-type tyrosine-protein phosphatase eta isoform 1 precursor

See identical proteins and their annotated locations for NP_002834.3

Status: REVIEWED

Description

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

Source sequence(s)

AC026975, AI218139, AL359057, DR007037, U10886

Consensus CDS

CCDS7945.1

UniProtKB/Swiss-Prot

Q12913, Q15255, Q6P4H4, Q8NHM2, Q9UDA9

UniProtKB/TrEMBL

A0A8V8TP51

Related

ENSP00000400010.2, ENST00000418331.7

Conserved Domains (4) summary

smart00060
Location:540 → 615

FN3; Fibronectin type 3 domain

smart00194
Location:1040 → 1297

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:1067 → 1297

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:119 → 205

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 ...

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

47980559..48170839

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017018085.2 → XP_016873574.1 receptor-type tyrosine-protein phosphatase eta isoform X1

UniProtKB/TrEMBL

A0A8V8TP51
XM_047427374.1 → XP_047283330.1 receptor-type tyrosine-protein phosphatase eta isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

48150119..48340376

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054369559.1 → XP_054225534.1 receptor-type tyrosine-protein phosphatase eta isoform X1

UniProtKB/TrEMBL

A0A8V8TP51
XM_054369560.1 → XP_054225535.1 receptor-type tyrosine-protein phosphatase eta isoform X2