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

Gene ID: 5794, updated on 5-Mar-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
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Genomic context

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Location:
19q13.42
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55181247..55209501, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58275309..58303271, complement)
105.20220307 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
  • 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. 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
  2. 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
  3. Downregulation of PTPRH (Sap-1) in colorectal tumors. Bujko M, et al. Int J Oncol, 2017 Sep. PMID 28713969
  4. Prognostic implication of PTPRH hypomethylation in non-small cell lung cancer. Sato T, et al. Oncol Rep, 2015 Sep. PMID 26134684, Free PMC Article
  5. Downregulation of stomach cancer-associated protein tyrosine phosphatase-1 (SAP-1) in advanced human hepatocellular carcinoma. Nagano H, et al. Oncogene, 2003 Jul 24. PMID 12879010

See all (24) 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 IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein dephosphorylation TAS
Traceable Author Statement
more info
 PubMed 
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_2023_10

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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