PTPRH protein tyrosine phosphatase receptor type H [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTPRHprovided by HGNC
Official Full Name: protein tyrosine phosphatase receptor type Hprovided by HGNC
Primary source: HGNC:HGNC:9672
See related: Ensembl:ENSG00000080031 MIM:602510; AllianceGenome:HGNC:9672
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: SAP1; R-PTP-H
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 a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
Expression: Biased expression in small intestine (RPKM 32.9), duodenum (RPKM 31.2) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.42

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (55181247..55209501, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (58275309..58303271, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (55692615..55720869, complement)

Chromosome 19 - NC_000019.10 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?

PTPRH promotes the progression of non-small cell lung cancer via glycolysis mediated by the PI3K/AKT/mTOR signaling pathway.
Title: PTPRH promotes the progression of non-small cell lung cancer via glycolysis mediated by the PI3K/AKT/mTOR signaling pathway.
Elevated phosphorylation of EGFR in NSCLC due to mutations in PTPRH.
Title: Elevated phosphorylation of EGFR in NSCLC due to mutations in PTPRH.
Crystal structure of the catalytic domain of human RPTPH.
Title: Crystal structure of the catalytic domain of human RPTPH.
The High Expression of PTPRH Is Associated with Poor Prognosis of Human Lung Adenocarcinoma.
Title: The High Expression of PTPRH Is Associated with Poor Prognosis of Human Lung Adenocarcinoma.
The results indicate that PTPRH is downregulated in colorectal tumors and its expression is epigenetically regulated via DNA methylation and chromatin modifications.
Title: Downregulation of PTPRH (Sap-1) in colorectal tumors.
PTPRH is overexpressed in non-small cell lung cancer, is regulated by DNA hypomethylation, and PTPRH DNA methylation was an independent prognostic factor
Title: Prognostic implication of PTPRH hypomethylation in non-small cell lung cancer.
SAP-1 expression is downregulated during the dedifferentiation of human hepatocellular carcinoma, which may play a causal role in disease progression
Title: Downregulation of stomach cancer-associated protein tyrosine phosphatase-1 (SAP-1) in advanced human hepatocellular carcinoma.
SAP-1 induces apoptotic cell death by inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway.
Title: Induction of apoptosis by stomach cancer-associated protein-tyrosine phosphatase-1.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

D19S1081 (e-PCR)
- UniSTS:12607

STS-D15049 (e-PCR)
- UniSTS:50041

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	IPI Inferred from Physical Interaction more info	PubMed
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 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, metal-dependent	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein tyrosine phosphatase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
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
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in microvillus membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: receptor-type tyrosine-protein phosphatase H

Names: stomach cancer-associated protein tyrosine phosphatase 1; transmembrane-type protein-tyrosine phosphatase type H

NP_001154912.2

EC 3.1.3.48

NP_002833.4

EC 3.1.3.48

XP_011525485.1

EC 3.1.3.48

XP_011525490.1

EC 3.1.3.48

XP_011525492.1

EC 3.1.3.48

XP_016882545.1

EC 3.1.3.48

XP_016882546.1

EC 3.1.3.48

XP_016882547.1

EC 3.1.3.48

XP_016882548.1

EC 3.1.3.48

XP_016882549.1

EC 3.1.3.48

XP_016882550.1

EC 3.1.3.48

XP_016882551.1

EC 3.1.3.48

XP_016882552.1

EC 3.1.3.48

XP_016882553.1

EC 3.1.3.48

XP_047295100.1

EC 3.1.3.48

XP_047295101.1

EC 3.1.3.48

XP_047295102.1

EC 3.1.3.48

XP_047295103.1

EC 3.1.3.48

XP_047295104.1

EC 3.1.3.48

XP_047295105.1

EC 3.1.3.48

XP_047295106.1

EC 3.1.3.48

XP_047295107.1

EC 3.1.3.48

XP_047295108.1

EC 3.1.3.48

XP_047295109.1

EC 3.1.3.48

XP_047295110.1

EC 3.1.3.48

XP_054177556.1

EC 3.1.3.48

XP_054177557.1

EC 3.1.3.48

XP_054177558.1

EC 3.1.3.48

XP_054177559.1

EC 3.1.3.48

XP_054177560.1

EC 3.1.3.48

XP_054177561.1

EC 3.1.3.48

XP_054177562.1

EC 3.1.3.48

XP_054177563.1

EC 3.1.3.48

XP_054177564.1

EC 3.1.3.48

XP_054177565.1

EC 3.1.3.48

XP_054177566.1

EC 3.1.3.48

XP_054177567.1

EC 3.1.3.48

XP_054177568.1

EC 3.1.3.48

XP_054177569.1

EC 3.1.3.48

XP_054177570.1

EC 3.1.3.48

XP_054177571.1

EC 3.1.3.48

XP_054177572.1

EC 3.1.3.48

XP_054177573.1

EC 3.1.3.48

XP_054177574.1

EC 3.1.3.48

XP_054177575.1

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_001161440.3 → NP_001154912.2 receptor-type tyrosine-protein phosphatase H isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two in-frame exons in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC010327, KF456611

Consensus CDS

CCDS54321.1

Related

ENSP00000263434.4, ENST00000263434.5

Conserved Domains (4) summary

smart00060
Location:387 → 470

FN3; Fibronectin type 3 domain

smart00194
Location:641 → 900

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:669 → 899

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:208 → 286

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_002842.5 → NP_002833.4 receptor-type tyrosine-protein phosphatase H isoform 1 precursor

See identical proteins and their annotated locations for NP_002833.4

Status: VALIDATED

Description

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

Source sequence(s)

AC010327, KF456611

Consensus CDS

CCDS33110.1

UniProtKB/Swiss-Prot

C9JCH2, Q15426, Q2NKN9, Q2NKP0, Q9HD43

Related

ENSP00000365528.2, ENST00000376350.8

Conserved Domains (3) summary

smart00060
Location:565 → 648

FN3; Fibronectin type 3 domain

cd00047
Location:847 → 1077

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 → 464

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

55181247..55209501 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047439150.1 → XP_047295106.1 receptor-type tyrosine-protein phosphatase H isoform X13
XM_047439148.1 → XP_047295104.1 receptor-type tyrosine-protein phosphatase H isoform X11
XM_047439149.1 → XP_047295105.1 receptor-type tyrosine-protein phosphatase H isoform X12
XM_011527183.2 → XP_011525485.1 receptor-type tyrosine-protein phosphatase H isoform X5

Conserved Domains (4) summary

smart00060
Location:572 → 655

FN3; Fibronectin type 3 domain

smart00194
Location:826 → 1085

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:854 → 1084

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:393 → 471

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 ...
XM_017027058.2 → XP_016882547.1 receptor-type tyrosine-protein phosphatase H isoform X3
XM_047439144.1 → XP_047295100.1 receptor-type tyrosine-protein phosphatase H isoform X4
XM_047439147.1 → XP_047295103.1 receptor-type tyrosine-protein phosphatase H isoform X10
XM_047439146.1 → XP_047295102.1 receptor-type tyrosine-protein phosphatase H isoform X9
XM_017027061.1 → XP_016882550.1 receptor-type tyrosine-protein phosphatase H isoform X15
XM_047439145.1 → XP_047295101.1 receptor-type tyrosine-protein phosphatase H isoform X8
XM_017027057.1 → XP_016882546.1 receptor-type tyrosine-protein phosphatase H isoform X2
XM_017027060.1 → XP_016882549.1 receptor-type tyrosine-protein phosphatase H isoform X7
XM_017027059.1 → XP_016882548.1 receptor-type tyrosine-protein phosphatase H isoform X6
XM_017027056.1 → XP_016882545.1 receptor-type tyrosine-protein phosphatase H isoform X1
XM_047439153.1 → XP_047295109.1 receptor-type tyrosine-protein phosphatase H isoform X17
XM_047439152.1 → XP_047295108.1 receptor-type tyrosine-protein phosphatase H isoform X16
XM_011527188.2 → XP_011525490.1 receptor-type tyrosine-protein phosphatase H isoform X16

See identical proteins and their annotated locations for XP_011525490.1

Conserved Domains (4) summary

smart00060
Location:378 → 461

FN3; Fibronectin type 3 domain

smart00194
Location:632 → 891

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:660 → 890

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:199 → 277

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 ...
XM_017027062.2 → XP_016882551.1 receptor-type tyrosine-protein phosphatase H isoform X16

Conserved Domains (4) summary

smart00060
Location:378 → 461

FN3; Fibronectin type 3 domain

smart00194
Location:632 → 891

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:660 → 890

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:199 → 277

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 ...
XM_017027063.1 → XP_016882552.1 receptor-type tyrosine-protein phosphatase H isoform X16

Conserved Domains (4) summary

smart00060
Location:378 → 461

FN3; Fibronectin type 3 domain

smart00194
Location:632 → 891

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:660 → 890

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:199 → 277

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 ...
XM_047439151.1 → XP_047295107.1 receptor-type tyrosine-protein phosphatase H isoform X14
XM_011527190.2 → XP_011525492.1 receptor-type tyrosine-protein phosphatase H isoform X20

Related

ENST00000588559.5

Conserved Domains (2) summary

smart00060
Location:572 → 655

FN3; Fibronectin type 3 domain

cd00063
Location:393 → 471

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 ...
XM_047439154.1 → XP_047295110.1 receptor-type tyrosine-protein phosphatase H isoform X19
XM_017027064.2 → XP_016882553.1 receptor-type tyrosine-protein phosphatase H isoform X18

RNA

XR_001753731.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

58275309..58303271 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321593.1 → XP_054177568.1 receptor-type tyrosine-protein phosphatase H isoform X13
XM_054321591.1 → XP_054177566.1 receptor-type tyrosine-protein phosphatase H isoform X11
XM_054321592.1 → XP_054177567.1 receptor-type tyrosine-protein phosphatase H isoform X12
XM_054321585.1 → XP_054177560.1 receptor-type tyrosine-protein phosphatase H isoform X5
XM_054321583.1 → XP_054177558.1 receptor-type tyrosine-protein phosphatase H isoform X3
XM_054321584.1 → XP_054177559.1 receptor-type tyrosine-protein phosphatase H isoform X4
XM_054321590.1 → XP_054177565.1 receptor-type tyrosine-protein phosphatase H isoform X10
XM_054321589.1 → XP_054177564.1 receptor-type tyrosine-protein phosphatase H isoform X9
XM_054321595.1 → XP_054177570.1 receptor-type tyrosine-protein phosphatase H isoform X15
XM_054321588.1 → XP_054177563.1 receptor-type tyrosine-protein phosphatase H isoform X8
XM_054321582.1 → XP_054177557.1 receptor-type tyrosine-protein phosphatase H isoform X2
XM_054321587.1 → XP_054177562.1 receptor-type tyrosine-protein phosphatase H isoform X7
XM_054321586.1 → XP_054177561.1 receptor-type tyrosine-protein phosphatase H isoform X6
XM_054321581.1 → XP_054177556.1 receptor-type tyrosine-protein phosphatase H isoform X1
XM_054321596.1 → XP_054177571.1 receptor-type tyrosine-protein phosphatase H isoform X16
XM_054321597.1 → XP_054177572.1 receptor-type tyrosine-protein phosphatase H isoform X16
XM_054321594.1 → XP_054177569.1 receptor-type tyrosine-protein phosphatase H isoform X14
XM_054321600.1 → XP_054177575.1 receptor-type tyrosine-protein phosphatase H isoform X20
XM_054321599.1 → XP_054177574.1 receptor-type tyrosine-protein phosphatase H isoform X19
XM_054321598.1 → XP_054177573.1 receptor-type tyrosine-protein phosphatase H isoform X18