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

    Gene ID: 5794, updated on 28-Oct-2024

    Summary

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    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

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    See PTPRH in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15078 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55691190-55691602 Neighboring gene synaptotagmin 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55701037-55701536 Neighboring gene uncharacterized LOC124904771 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55729317-55729503 Neighboring gene transmembrane protein 86B Neighboring gene protein phosphatase 6 regulatory subunit 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. PTPRH promotes the progression of non-small cell lung cancer via glycolysis mediated by the PI3K/AKT/mTOR signaling pathway. Wang S, et al. J Transl Med, 2023 Nov 16. PMID 37974250, Free PMC Article
    2. Crystal structure of the catalytic domain of human RPTPH. Kim M, et al. Acta Crystallogr F Struct Biol Commun, 2022 Jul 1. PMID 35787553, Free PMC Article
    3. The High Expression of PTPRH Is Associated with Poor Prognosis of Human Lung Adenocarcinoma. Chen A, et al. Comput Math Methods Med, 2021. PMID 34367321, Free PMC Article
    4. Molecular cloning of a human transmembrane-type protein tyrosine phosphatase and its expression in gastrointestinal cancers. Matozaki T, et al. J Biol Chem, 1994 Jan 21. PMID 8294459
    5. Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome. Marneros AG, et al. Cytogenet Cell Genet, 2001. PMID 11435690

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Elevated phosphorylation of EGFR in NSCLC due to mutations in PTPRH.
      Title: Elevated phosphorylation of EGFR in NSCLC due to mutations in PTPRH.
    3. Crystal structure of the catalytic domain of human RPTPH.
      Title: Crystal structure of the catalytic domain of human RPTPH.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39938, MGC133058, MGC133059

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin 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 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 protein dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    NP_002833.4
    XP_011525485.1
    XP_011525490.1
    XP_011525492.1
    XP_016882545.1
    XP_016882546.1
    XP_016882547.1
    XP_016882548.1
    XP_016882549.1
    XP_016882550.1
    XP_016882551.1
    XP_016882552.1
    XP_016882553.1
    XP_047295100.1
    XP_047295101.1
    XP_047295102.1
    XP_047295103.1
    XP_047295104.1
    XP_047295105.1
    XP_047295106.1
    XP_047295107.1
    XP_047295108.1
    XP_047295109.1
    XP_047295110.1
    XP_054177556.1
    XP_054177557.1
    XP_054177558.1
    XP_054177559.1
    XP_054177560.1
    XP_054177561.1
    XP_054177562.1
    XP_054177563.1
    XP_054177564.1
    XP_054177565.1
    XP_054177566.1
    XP_054177567.1
    XP_054177568.1
    XP_054177569.1
    XP_054177570.1
    XP_054177571.1
    XP_054177572.1
    XP_054177573.1
    XP_054177574.1
    XP_054177575.1

    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)

    1. 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 ...

    2. 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

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55181247..55209501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439150.1 → XP_047295106.1  receptor-type tyrosine-protein phosphatase H isoform X13

    2. XM_047439148.1 → XP_047295104.1  receptor-type tyrosine-protein phosphatase H isoform X11

    3. XM_047439149.1 → XP_047295105.1  receptor-type tyrosine-protein phosphatase H isoform X12

    4. 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 ...

    5. XM_017027058.2 → XP_016882547.1  receptor-type tyrosine-protein phosphatase H isoform X3

    6. XM_047439144.1 → XP_047295100.1  receptor-type tyrosine-protein phosphatase H isoform X4

    7. XM_047439147.1 → XP_047295103.1  receptor-type tyrosine-protein phosphatase H isoform X10

    8. XM_047439146.1 → XP_047295102.1  receptor-type tyrosine-protein phosphatase H isoform X9

    9. XM_017027061.1 → XP_016882550.1  receptor-type tyrosine-protein phosphatase H isoform X15

    10. XM_047439145.1 → XP_047295101.1  receptor-type tyrosine-protein phosphatase H isoform X8

    11. XM_017027057.1 → XP_016882546.1  receptor-type tyrosine-protein phosphatase H isoform X2

    12. XM_017027060.1 → XP_016882549.1  receptor-type tyrosine-protein phosphatase H isoform X7

    13. XM_017027059.1 → XP_016882548.1  receptor-type tyrosine-protein phosphatase H isoform X6

    14. XM_017027056.1 → XP_016882545.1  receptor-type tyrosine-protein phosphatase H isoform X1

    15. XM_047439153.1 → XP_047295109.1  receptor-type tyrosine-protein phosphatase H isoform X17

    16. XM_047439152.1 → XP_047295108.1  receptor-type tyrosine-protein phosphatase H isoform X16

    17. 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 ...

    18. 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 ...

    19. 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 ...

    20. XM_047439151.1 → XP_047295107.1  receptor-type tyrosine-protein phosphatase H isoform X14

    21. 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 ...

    22. XM_047439154.1 → XP_047295110.1  receptor-type tyrosine-protein phosphatase H isoform X19

    23. XM_017027064.2 → XP_016882553.1  receptor-type tyrosine-protein phosphatase H isoform X18

    RNA

    1. XR_001753731.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58275309..58303271 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321593.1 → XP_054177568.1  receptor-type tyrosine-protein phosphatase H isoform X13

    2. XM_054321591.1 → XP_054177566.1  receptor-type tyrosine-protein phosphatase H isoform X11

    3. XM_054321592.1 → XP_054177567.1  receptor-type tyrosine-protein phosphatase H isoform X12

    4. XM_054321585.1 → XP_054177560.1  receptor-type tyrosine-protein phosphatase H isoform X5

    5. XM_054321583.1 → XP_054177558.1  receptor-type tyrosine-protein phosphatase H isoform X3

    6. XM_054321584.1 → XP_054177559.1  receptor-type tyrosine-protein phosphatase H isoform X4

    7. XM_054321590.1 → XP_054177565.1  receptor-type tyrosine-protein phosphatase H isoform X10

    8. XM_054321589.1 → XP_054177564.1  receptor-type tyrosine-protein phosphatase H isoform X9

    9. XM_054321595.1 → XP_054177570.1  receptor-type tyrosine-protein phosphatase H isoform X15

    10. XM_054321588.1 → XP_054177563.1  receptor-type tyrosine-protein phosphatase H isoform X8

    11. XM_054321582.1 → XP_054177557.1  receptor-type tyrosine-protein phosphatase H isoform X2

    12. XM_054321587.1 → XP_054177562.1  receptor-type tyrosine-protein phosphatase H isoform X7

    13. XM_054321586.1 → XP_054177561.1  receptor-type tyrosine-protein phosphatase H isoform X6

    14. XM_054321581.1 → XP_054177556.1  receptor-type tyrosine-protein phosphatase H isoform X1

    15. XM_054321596.1 → XP_054177571.1  receptor-type tyrosine-protein phosphatase H isoform X16

    16. XM_054321597.1 → XP_054177572.1  receptor-type tyrosine-protein phosphatase H isoform X16

    17. XM_054321594.1 → XP_054177569.1  receptor-type tyrosine-protein phosphatase H isoform X14

    18. XM_054321600.1 → XP_054177575.1  receptor-type tyrosine-protein phosphatase H isoform X20

    19. XM_054321599.1 → XP_054177574.1  receptor-type tyrosine-protein phosphatase H isoform X19

    20. XM_054321598.1 → XP_054177573.1  receptor-type tyrosine-protein phosphatase H isoform X18

    RNA

    1. XR_008485174.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HD43.4 GenPept UniProtKB/Swiss-Prot:Q9HD43

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