Human Gene PTPRH (ENST00000376350.8) from GENCODE V44
  Description: Homo sapiens protein tyrosine phosphatase receptor type H (PTPRH), transcript variant 1, mRNA. (from RefSeq NM_002842)
RefSeq Summary (NM_002842): 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].
Gencode Transcript: ENST00000376350.8
Gencode Gene: ENSG00000080031.10
Transcript (Including UTRs)
   Position: hg38 chr19:55,181,247-55,209,501 Size: 28,255 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg38 chr19:55,181,754-55,209,433 Size: 27,680 Coding Exon Count: 20 

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RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:55,181,247-55,209,501)mRNA (may differ from genome)Protein (1115 aa)
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-  Comments and Description Text from UniProtKB
  ID: PTPRH_HUMAN
DESCRIPTION: RecName: Full=Receptor-type tyrosine-protein phosphatase H; Short=R-PTP-H; EC=3.1.3.48; AltName: Full=Stomach cancer-associated protein tyrosine phosphatase 1; Short=SAP-1; AltName: Full=Transmembrane-type protein-tyrosine phosphatase type H; Flags: Precursor;
FUNCTION: 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 p130cas, focal adhesion kinase and c-Src. Reduces migratory activity of Jurkat cells.
CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
ENZYME REGULATION: Regulated by reversible dimerization. Dimerization reduces its catalytic activity.
SUBUNIT: Homodimer; disulfide-linked (Probable). Interacts with LCK.
INTERACTION: P10912:GHR; NbExp=4; IntAct=EBI-1267176, EBI-286316;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential). Cytoplasm.
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.
INDUCTION: Induced at the early stage of hepatocellular carcinoma and is suppressed at later stages.
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.
DOMAIN: The cytoplasmic domain mediates the interaction with LCK.
SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily.
SIMILARITY: Contains 8 fibronectin type-III domains.
SIMILARITY: Contains 1 tyrosine-protein phosphatase domain.
SEQUENCE CAUTION: Sequence=BAA03645.2; Type=Frameshift; Positions=213, 244, 264, 287, 291;

-  Primer design for this transcript
 

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PTPRH
Diseases sorted by gene-association score: peutz-jeghers syndrome (7), hepatocellular carcinoma (2), lynch syndrome (2), stomach cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.56 RPKM in Small Intestine - Terminal Ileum
Total median expression: 109.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.7068-0.349 Picture PostScript Text
3' UTR -207.60507-0.409 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR013783 - Ig-like_fold
IPR000387 - Tyr/Dual-specificity_Pase
IPR016130 - Tyr_Pase_AS
IPR000242 - Tyr_Pase_rcpt/non-rcpt

Pfam Domains:
PF00041 - Fibronectin type III domain
PF00102 - Protein-tyrosine phosphatase

ModBase Predicted Comparative 3D Structure on Q9HD43
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
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Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004721 phosphoprotein phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity

Biological Process:
GO:0006470 protein dephosphorylation
GO:0006915 apoptotic process
GO:0016311 dephosphorylation
GO:0035335 peptidyl-tyrosine dephosphorylation

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005902 microvillus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0031528 microvillus membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  D15049 - Homo sapiens SAP-1 mRNA for protein tyrosine phosphatase precursor, complete cds.
JD259494 - Sequence 240518 from Patent EP1572962.
JD270288 - Sequence 251312 from Patent EP1572962.
JD102273 - Sequence 83297 from Patent EP1572962.
JD268615 - Sequence 249639 from Patent EP1572962.
JD372554 - Sequence 353578 from Patent EP1572962.
JD053461 - Sequence 34485 from Patent EP1572962.
JD183694 - Sequence 164718 from Patent EP1572962.
JD146354 - Sequence 127378 from Patent EP1572962.
JD183610 - Sequence 164634 from Patent EP1572962.
JD353632 - Sequence 334656 from Patent EP1572962.
JD216056 - Sequence 197080 from Patent EP1572962.
JD287732 - Sequence 268756 from Patent EP1572962.
JD297637 - Sequence 278661 from Patent EP1572962.
JD340387 - Sequence 321411 from Patent EP1572962.
BC111715 - Homo sapiens protein tyrosine phosphatase, receptor type, H, mRNA (cDNA clone MGC:133059 IMAGE:40008777), complete cds.
BC111716 - Homo sapiens protein tyrosine phosphatase, receptor type, H, mRNA (cDNA clone MGC:133058 IMAGE:40008775), complete cds.
JD066116 - Sequence 47140 from Patent EP1572962.
JD368970 - Sequence 349994 from Patent EP1572962.
JD386769 - Sequence 367793 from Patent EP1572962.
JD077552 - Sequence 58576 from Patent EP1572962.
JD485728 - Sequence 466752 from Patent EP1572962.
JD209820 - Sequence 190844 from Patent EP1572962.
KJ897424 - Synthetic construct Homo sapiens clone ccsbBroadEn_06818 PTPRH gene, encodes complete protein.
AK097257 - Homo sapiens cDNA FLJ39938 fis, clone SPLEN2022162, highly similar to Homo sapiens transmembrane-type protein tyrosine phosphatase H (PTPRH) gene.
JD226491 - Sequence 207515 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000376350.1, ENST00000376350.2, ENST00000376350.3, ENST00000376350.4, ENST00000376350.5, ENST00000376350.6, ENST00000376350.7, NM_002842, PTPRH_HUMAN, Q15426, Q2NKN9, Q2NKP0, Q9HD43, SAP1, uc002qjq.1, uc002qjq.2, uc002qjq.3, uc002qjq.4, uc002qjq.5
UCSC ID: ENST00000376350.8
RefSeq Accession: NM_002842
Protein: Q9HD43 (aka PTPRH_HUMAN)
CCDS: CCDS33110.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.