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

Gene ID: 5794, updated on 2-Oct-2022

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
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Genomic context

See PTPRH in Genome Data Viewer
Location:
19q13.42
Exon count:
23
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55181247..55209501, complement)
110 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 synaptotagmin 5 Neighboring gene uncharacterized LOC124904771 Neighboring gene transmembrane protein 86B Neighboring gene protein phosphatase 6 regulatory subunit 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables transmembrane receptor protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in protein dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in microvillus membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

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_001161440.3NP_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:387470
    FN3; Fibronectin type 3 domain
    smart00194
    Location:641900
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:669899
    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:208286
    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_002842.5NP_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
    Q2NKP0
    Related
    ENSP00000365528.2, ENST00000376350.8
    Conserved Domains (3) summary
    smart00060
    Location:565648
    FN3; Fibronectin type 3 domain
    cd00047
    Location:8471077
    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:386464
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047439150.1XP_047295106.1  receptor-type tyrosine-protein phosphatase H isoform X13

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

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

  4. XM_011527183.2XP_011525485.1  receptor-type tyrosine-protein phosphatase H isoform X5

    Conserved Domains (4) summary
    smart00060
    Location:572655
    FN3; Fibronectin type 3 domain
    smart00194
    Location:8261085
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:8541084
    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:393471
    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_017027058.2XP_016882547.1  receptor-type tyrosine-protein phosphatase H isoform X3

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

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

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

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

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

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

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

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

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

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

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

  17. XM_011527188.2XP_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:378461
    FN3; Fibronectin type 3 domain
    smart00194
    Location:632891
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:660890
    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:199277
    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_017027062.2XP_016882551.1  receptor-type tyrosine-protein phosphatase H isoform X16

    Conserved Domains (4) summary
    smart00060
    Location:378461
    FN3; Fibronectin type 3 domain
    smart00194
    Location:632891
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:660890
    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:199277
    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_017027063.1XP_016882552.1  receptor-type tyrosine-protein phosphatase H isoform X16

    Conserved Domains (4) summary
    smart00060
    Location:378461
    FN3; Fibronectin type 3 domain
    smart00194
    Location:632891
    PTPc; Protein tyrosine phosphatase, catalytic domain
    cd00047
    Location:660890
    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:199277
    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_047439151.1XP_047295107.1  receptor-type tyrosine-protein phosphatase H isoform X14

  21. XM_011527190.2XP_011525492.1  receptor-type tyrosine-protein phosphatase H isoform X20

    Related
    ENST00000588559.5
    Conserved Domains (2) summary
    smart00060
    Location:572655
    FN3; Fibronectin type 3 domain
    cd00063
    Location:393471
    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_047439154.1XP_047295110.1  receptor-type tyrosine-protein phosphatase H isoform X19

  23. XM_017027064.2XP_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)