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Aliases for PTPRH Gene

Aliases for PTPRH Gene

  • Protein Tyrosine Phosphatase, Receptor Type H 2 3 5
  • Stomach Cancer-Associated Protein Tyrosine Phosphatase 1 3 4
  • Transmembrane-Type Protein-Tyrosine Phosphatase Type H 3 4
  • EC 3.1.3.48 4 58
  • R-PTP-H 3 4
  • SAP1 3 4
  • Receptor-Type Tyrosine-Protein Phosphatase H 3
  • SAP-1 4

External Ids for PTPRH Gene

Previous GeneCards Identifiers for PTPRH Gene

  • GC19M056556
  • GC19M056117
  • GC19M060368
  • GC19M060384
  • GC19M055692
  • GC19M052015

Summaries for PTPRH Gene

Entrez Gene Summary for PTPRH Gene

  • 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]

GeneCards Summary for PTPRH Gene

PTPRH (Protein Tyrosine Phosphatase, Receptor Type H) is a Protein Coding gene. Diseases associated with PTPRH include Peutz-Jeghers Syndrome and Hepatocellular Carcinoma. Among its related pathways are PAK Pathway. GO annotations related to this gene include phosphatase activity and transmembrane receptor protein tyrosine phosphatase activity. An important paralog of this gene is PTPRB.

UniProtKB/Swiss-Prot for PTPRH Gene

  • Protein phosphatase that may contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of focal adhesion-associated substrates and thus negatively regulating integrin-promoted signaling processes. Induces apoptotic cell death by at least two distinct mechanisms: inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. Inhibits the basal activity of LCK and its activation in response to TCR stimulation and TCR-induced activation of MAP kinase and surface expression of CD69. Inhibits TCR-induced tyrosine phosphorylation of LAT and ZAP70. Inhibits both basal activity of DOK1 and its CD2-induced tyrosine phosphorylation. Induces dephosphorylation of BCAR1, focal adhesion kinase and SRC. Reduces migratory activity of activity of Jurkat cells. Reduces tyrosine phosphorylation of CEACAM20 and thereby contributes to suppress the intestinal immune response CEACAM20 (By similarity).

Gene Wiki entry for PTPRH Gene

Additional gene information for PTPRH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPRH Gene

Genomics for PTPRH Gene

Regulatory Elements for PTPRH Gene

Enhancers for PTPRH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H055243 0.2 dbSUPER 11.8 -34.6 -34607 1 BRSK1 HSPBP1 PTPRH SYT5 TMEM238 RPL28 ENSG00000239137 DNAAF3 TNNT1 TNNI3
GH19H055206 1.6 Ensembl ENCODE dbSUPER 0.7 +0.8 776 5 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 FOS PPP6R1 PTPRH SYT5
GH19H055212 0.9 ENCODE 0.7 -3.1 -3114 0 HDAC1 PKNOX1 ATF1 TBL1XR1 ARID4B RAD21 RARA RFX5 ZNF766 GATA2 SHISA7 TTYH1 PTPRH ENSG00000267649
GH19H055188 1.4 FANTOM5 Ensembl ENCODE 0.3 +20.1 20121 1 TBP SIN3A RAD21 BRCA1 RFX5 ELK1 RCOR1 FOS PAF1 USF2 TNNI3 SYT5 PTPRH
GH19H055203 0.5 dbSUPER 0.4 +5.7 5675 1 GATAD2A SAP130 HNF4A ZKSCAN1 DNAAF3 PTPRH SYT5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTPRH on UCSC Golden Path with GeneCards custom track

Genomic Location for PTPRH Gene

Chromosome:
19
Start:
55,181,247 bp from pter
End:
55,209,506 bp from pter
Size:
28,260 bases
Orientation:
Minus strand

Genomic View for PTPRH Gene

Genes around PTPRH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPRH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPRH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPRH Gene

Proteins for PTPRH Gene

  • Protein details for PTPRH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HD43-PTPRH_HUMAN
    Recommended name:
    Receptor-type tyrosine-protein phosphatase H
    Protein Accession:
    Q9HD43
    Secondary Accessions:
    • C9JCH2
    • Q15426
    • Q2NKN9
    • Q2NKP0

    Protein attributes for PTPRH Gene

    Size:
    1115 amino acids
    Molecular mass:
    122352 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (Probable). Interacts with LCK (PubMed:12837766). Interacts (phosphorylated form) with GRB2 (via SH2 domain) (By similarity). Interacts (phosphorylated form) with FYN (via SH2 domain) (By similarity). Interacts (via extracellular domain) with CEACAM20 (via extracellular domain); the interaction dephosphorylates CEACAM20 (By similarity).
    SequenceCaution:
    • Sequence=BAA03645.2; Type=Frameshift; Positions=213, 244, 264, 287, 291; Evidence={ECO:0000305};

    Alternative splice isoforms for PTPRH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPRH Gene

Selected DME Specific Peptides for PTPRH Gene

Q9HD43:
  • VHCSAGVGRTG
  • VQTEAQY
  • DYINASF
  • WPDHGVP
  • LSWEVPD

Post-translational modifications for PTPRH Gene

  • Glycosylation at isoforms=2, 335, Asn83, Asn107, Asn172, isoforms=256, isoforms=2285, isoforms=2, 3350, isoforms=2, 3434, isoforms=2, 3468, isoforms=2, 3556, isoforms=2, 3620, and isoforms=2, 3642
  • Modification sites at PhosphoSitePlus

Domains & Families for PTPRH Gene

Gene Families for PTPRH Gene

Suggested Antigen Peptide Sequences for PTPRH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HD43

UniProtKB/Swiss-Prot:

PTPRH_HUMAN :
  • The extracellular domain mediates homodimerization. One or more cysteines in the extracellular domain is essential for the formation of dimers probably by forming a disulfide bond.
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily.
Domain:
  • The extracellular domain mediates homodimerization. One or more cysteines in the extracellular domain is essential for the formation of dimers probably by forming a disulfide bond.
  • The cytoplasmic domain mediates the interaction with LCK.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily.
genes like me logo Genes that share domains with PTPRH: view

Function for PTPRH Gene

Molecular function for PTPRH Gene

GENATLAS Biochemistry:
protein tyrosine phosphatase,receptor type III,eta polypeptide
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by reversible dimerization. Dimerization reduces its catalytic activity.
UniProtKB/Swiss-Prot Function:
Protein phosphatase that may contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of focal adhesion-associated substrates and thus negatively regulating integrin-promoted signaling processes. Induces apoptotic cell death by at least two distinct mechanisms: inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. Inhibits the basal activity of LCK and its activation in response to TCR stimulation and TCR-induced activation of MAP kinase and surface expression of CD69. Inhibits TCR-induced tyrosine phosphorylation of LAT and ZAP70. Inhibits both basal activity of DOK1 and its CD2-induced tyrosine phosphorylation. Induces dephosphorylation of BCAR1, focal adhesion kinase and SRC. Reduces migratory activity of activity of Jurkat cells. Reduces tyrosine phosphorylation of CEACAM20 and thereby contributes to suppress the intestinal immune response CEACAM20 (By similarity).
UniProtKB/Swiss-Prot Induction:
Induced at the early stage of hepatocellular carcinoma and is suppressed at later stages.

Enzyme Numbers (IUBMB) for PTPRH Gene

Phenotypes From GWAS Catalog for PTPRH Gene

Gene Ontology (GO) - Molecular Function for PTPRH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 12907755
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IEA --
genes like me logo Genes that share ontologies with PTPRH: view
genes like me logo Genes that share phenotypes with PTPRH: view

Animal Models for PTPRH Gene

MGI Knock Outs for PTPRH:

Animal Model Products

CRISPR Products

miRNA for PTPRH Gene

miRTarBase miRNAs that target PTPRH

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PTPRH
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTPRH Gene

Localization for PTPRH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPRH Gene

Cell projection, microvillus membrane; Single-pass type I membrane protein. Apical cell membrane; Single-pass type I membrane protein. Cytoplasm. Note=Colocalizes with CEACAM20 at the apical brush border of intestinal cells. {ECO:0000250 UniProtKB:E9Q0N2}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTPRH gene
Compartment Confidence
plasma membrane 5
mitochondrion 3
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PTPRH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 8294459
GO:0005902 microvillus IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PTPRH: view

Pathways & Interactions for PTPRH Gene

SuperPathways for PTPRH Gene

SuperPathway Contained pathways
1 PAK Pathway
genes like me logo Genes that share pathways with PTPRH: view

Pathways by source for PTPRH Gene

1 Qiagen pathway for PTPRH Gene

SIGNOR curated interactions for PTPRH Gene

Inactivates:

Gene Ontology (GO) - Biological Process for PTPRH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation TAS 8294459
GO:0006915 apoptotic process IEA --
GO:0016311 dephosphorylation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
genes like me logo Genes that share ontologies with PTPRH: view

Drugs & Compounds for PTPRH Gene

(3) Drugs for PTPRH Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(1) Additional Compounds for PTPRH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with PTPRH: view

Transcripts for PTPRH Gene

Unigene Clusters for PTPRH Gene

Protein tyrosine phosphatase, receptor type, H:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PTPRH
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PTPRH Gene

No ASD Table

Relevant External Links for PTPRH Gene

GeneLoc Exon Structure for
PTPRH
ECgene alternative splicing isoforms for
PTPRH

Expression for PTPRH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTPRH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTPRH Gene

This gene is overexpressed in Colon - Transverse (x8.1), Small Intestine - Terminal Ileum (x7.1), Spleen (x6.4), Liver (x4.9), Adrenal Gland (x4.9), and Stomach (x4.1).

Protein differential expression in normal tissues from HIPED for PTPRH Gene

This gene is overexpressed in Spleen (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PTPRH Gene



Protein tissue co-expression partners for PTPRH Gene

NURSA nuclear receptor signaling pathways regulating expression of PTPRH Gene:

PTPRH

SOURCE GeneReport for Unigene cluster for PTPRH Gene:

Hs.179770

mRNA Expression by UniProt/SwissProt for PTPRH Gene:

Q9HD43-PTPRH_HUMAN
Tissue specificity: Expressed at high levels in the brain, spleen and liver and at lower levels in the heart and stomach. Expressed in pancreatic and colorectal cancer cells, but not in normal pancreas or colon. Expression in hepatocellular carcinoma is related to the differentiation status of the tumor and expression is inversely related to tumor aggressiveness.
genes like me logo Genes that share expression patterns with PTPRH: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPRH Gene

Orthologs for PTPRH Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPRH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTPRH 33 34
  • 97.76 (n)
cow
(Bos Taurus)
Mammalia PTPRH 33 34
  • 75.69 (n)
dog
(Canis familiaris)
Mammalia PTPRH 33 34
  • 73.17 (n)
mouse
(Mus musculus)
Mammalia Ptprh 33 16 34
  • 70.77 (n)
rat
(Rattus norvegicus)
Mammalia Ptprh 33
  • 70.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PTPRH 34
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTPRH 34
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTPRH 34
  • 16 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPRH 34
  • 15 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptprh 33
  • 47.36 (n)
zebrafish
(Danio rerio)
Actinopterygii ptprh 33 34 34
  • 45.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ptp52F 34
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C17H12.3 35
  • 35 (a)
Y71G12B.31 34
  • 31 (a)
OneToMany
T27A3.5 35
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
-- 34
  • 10 (a)
ManyToMany
Species where no ortholog for PTPRH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTPRH Gene

ENSEMBL:
Gene Tree for PTPRH (if available)
TreeFam:
Gene Tree for PTPRH (if available)

Paralogs for PTPRH Gene

Paralogs for PTPRH Gene

genes like me logo Genes that share paralogs with PTPRH: view

Variants for PTPRH Gene

Sequence variations from dbSNP and Humsavar for PTPRH Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000003957 -- 55,184,666(+) GCTGT(A/T)ATCCC intron-variant
rs1000184496 -- 55,189,231(+) TCCTC(C/T)CGCCT intron-variant
rs1000192044 -- 55,203,396(+) TTTCT(-/TTCCTTCCTTCC)TTCCT intron-variant
rs1000248892 -- 55,196,877(+) GAGCC(C/T)ATCCC intron-variant
rs1000289007 -- 55,198,150(+) AGGTC(A/G)AGGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PTPRH Gene

Variant ID Type Subtype PubMed ID
esv1564792 CNV deletion 17803354
esv2668035 CNV deletion 23128226
esv2718960 CNV deletion 23290073
nsv1109219 CNV deletion 24896259
nsv1117223 CNV tandem duplication 24896259
nsv1138728 CNV deletion 24896259
nsv1142133 CNV deletion 24896259
nsv1143925 CNV deletion 24896259
nsv512598 CNV loss 21212237
nsv960874 CNV duplication 23825009

Variation tolerance for PTPRH Gene

Residual Variation Intolerance Score: 96.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.82; 96.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTPRH Gene

Human Gene Mutation Database (HGMD)
PTPRH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPRH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPRH Gene

Disorders for PTPRH Gene

MalaCards: The human disease database

(4) MalaCards diseases for PTPRH Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peutz-jeghers syndrome
  • colonic hamartomatous polyp
hepatocellular carcinoma
  • hepatocellular carcinoma, somatic
lynch syndrome
  • coca 1
stomach cancer
  • gastric cancer
- elite association - COSMIC cancer census association via MalaCards
Search PTPRH in MalaCards View complete list of genes associated with diseases

Relevant External Links for PTPRH

Human Genome Epidemiology (HuGE) Navigator
PTPRH
Tumor Gene Database (TGDB):
PTPRH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTPRH
genes like me logo Genes that share disorders with PTPRH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTPRH Gene

Publications for PTPRH Gene

  1. Molecular cloning of a human transmembrane-type protein tyrosine phosphatase and its expression in gastrointestinal cancers. (PMID: 8294459) Matozaki T … Sakamoto C (The Journal of biological chemistry 1994) 2 3 4 22 60
  2. Downregulation of stomach cancer-associated protein tyrosine phosphatase-1 (SAP-1) in advanced human hepatocellular carcinoma. (PMID: 12879010) Nagano H … Hayashi Y (Oncogene 2003) 3 4 22 60
  3. Interaction of SAP-1, a transmembrane-type protein-tyrosine phosphatase, with the tyrosine kinase Lck. Roles in regulation of T cell function. (PMID: 12837766) Ito T … Matozaki T (The Journal of biological chemistry 2003) 3 4 22 60
  4. Induction of apoptosis by stomach cancer-associated protein-tyrosine phosphatase-1. (PMID: 12101188) Takada T … Kasuga M (The Journal of biological chemistry 2002) 3 4 22 60
  5. Inhibition of cell growth and spreading by stomach cancer-associated protein-tyrosine phosphatase-1 (SAP-1) through dephosphorylation of p130cas. (PMID: 11278335) Noguchi T … Kasuga M (The Journal of biological chemistry 2001) 3 4 22 60

Products for PTPRH Gene

Sources for PTPRH Gene

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