Human Gene PTPN1 (ENST00000371621.5_4) from GENCODE V47lift37
  Description: protein tyrosine phosphatase non-receptor type 1, transcript variant 1 (from RefSeq NM_002827.4)
Gencode Transcript: ENST00000371621.5_4
Gencode Gene: ENSG00000196396.10_7
Transcript (Including UTRs)
   Position: hg19 chr20:49,126,920-49,201,778 Size: 74,859 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr20:49,127,065-49,199,252 Size: 72,188 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:49,126,920-49,201,778)mRNA (may differ from genome)Protein (435 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PTN1_HUMAN
DESCRIPTION: RecName: Full=Tyrosine-protein phosphatase non-receptor type 1; EC=3.1.3.48; AltName: Full=Protein-tyrosine phosphatase 1B; Short=PTP-1B;
FUNCTION: Tyrosine-protein phosphatase which acts as a regulator of endoplasmic reticulum unfolded protein response. Mediates dephosphorylation of EIF2AK3/PERK; inactivating the protein kinase activity of EIF2AK3/PERK. May play an important role in CKII- and p60c-src-induced signal transduction cascades. May regulate the EFNA5-EPHA3 signaling pathway which modulates cell reorganization and cell-cell repulsion.
CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
SUBUNIT: Interacts with EPHA3 (phosphorylated); dephosphorylates EPHA3 and may regulate its trafficking and function.
INTERACTION: P15116:Cdh2 (xeno); NbExp=3; IntAct=EBI-968788, EBI-397974; P10912:GHR; NbExp=5; IntAct=EBI-968788, EBI-286316; P63166:Sumo1 (xeno); NbExp=2; IntAct=EBI-968788, EBI-80152;
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Note=Interacts with EPHA3 at the cell membrane.
PTM: Oxidized on Cys-215; the Cys-SOH formed in response to redox signaling reacts with the alpha-amido of the following residue to form a sulfenamide cross-link, triggering a conformational change that inhibits substrate binding and activity. The active site can be restored by reduction.
PTM: Ser-50 is the major site of phosphorylation as compared to Ser-242 and Ser-243. Activated by phosphorylation at Ser-50.
PTM: S-nitrosylation of Cys-215 inactivates the enzyme activity.
PTM: Sulfhydration at Cys-215 following endoplasmic reticulum stress inactivates the enzyme activity, promoting EIF2AK3/PERK activity.
SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Non-receptor class 1 subfamily.
SIMILARITY: Contains 1 tyrosine-protein phosphatase domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

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: PTPN1
Diseases sorted by gene-association score: diabetes mellitus, noninsulin-dependent* (112), bubonic plague (23), carbuncle (7), leopard syndrome (5), fructose intolerance, hereditary (4), obesity (2), overnutrition (1), glucose metabolism disease (1)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 55.61 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 972.17 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 -72.20145-0.498 Picture PostScript Text
3' UTR -791.902526-0.313 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
IPR000387 - Tyr/Dual-specificity_Pase
IPR016130 - Tyr_Pase_AS
IPR012265 - Tyr_Pase_non-rcpt_typ-1/2
IPR000242 - Tyr_Pase_rcpt/non-rcpt

Pfam Domains:
PF00102 - Protein-tyrosine phosphatase

SCOP Domains:
52799 - (Phosphotyrosine protein) phosphatases II

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1A5Y - X-ray MuPIT 1AAX - X-ray MuPIT 1BZC - X-ray MuPIT 1BZH - X-ray MuPIT 1BZJ - X-ray MuPIT 1C83 - X-ray MuPIT 1C84 - X-ray MuPIT 1C85 - X-ray MuPIT 1C86 - X-ray MuPIT 1C87 - X-ray MuPIT 1C88 - X-ray MuPIT 1ECV - X-ray MuPIT 1EEN - X-ray MuPIT 1EEO - X-ray MuPIT 1G1F - X-ray MuPIT 1G1G - X-ray MuPIT 1G1H - X-ray MuPIT 1G7F - X-ray MuPIT 1G7G - X-ray MuPIT 1GFY - X-ray MuPIT 1I57 - X-ray MuPIT 1JF7 - X-ray MuPIT 1KAK - X-ray MuPIT 1KAV - X-ray MuPIT 1L8G - X-ray MuPIT 1LQF - X-ray MuPIT 1NL9 - X-ray MuPIT 1NNY - X-ray MuPIT 1NO6 - X-ray MuPIT 1NWE - X-ray MuPIT 1NWL - X-ray MuPIT 1NZ7 - X-ray MuPIT 1OEM - X-ray MuPIT 1OEO - X-ray MuPIT 1OES - X-ray MuPIT 1OET - X-ray MuPIT 1OEU - X-ray MuPIT 1OEV - X-ray MuPIT 1ONY - X-ray MuPIT 1ONZ - X-ray MuPIT 1PA1 - X-ray MuPIT 1PH0 - X-ray MuPIT 1PTT - X-ray MuPIT 1PTU - X-ray MuPIT 1PTV - X-ray MuPIT 1PTY - X-ray MuPIT 1PXH - X-ray MuPIT 1PYN - X-ray MuPIT 1Q1M - X-ray MuPIT 1Q6J - X-ray MuPIT 1Q6M - X-ray MuPIT 1Q6N - X-ray MuPIT 1Q6P - X-ray MuPIT 1Q6S - X-ray MuPIT 1Q6T - X-ray MuPIT 1QXK - X-ray MuPIT 1SUG - X-ray MuPIT 1T48 - X-ray MuPIT 1T49 - X-ray MuPIT 1T4J - X-ray MuPIT 1WAX - X-ray MuPIT 1XBO - X-ray MuPIT 2AZR - X-ray MuPIT 2B07 - X-ray MuPIT 2B4S - X-ray MuPIT 2BGD - X-ray MuPIT 2BGE - X-ray MuPIT 2CM2 - X-ray MuPIT 2CM3 - X-ray MuPIT 2CM7 - X-ray MuPIT 2CM8 - X-ray MuPIT 2CMA - X-ray MuPIT 2CMB - X-ray MuPIT 2CMC - X-ray MuPIT 2CNE - X-ray MuPIT 2CNF - X-ray MuPIT 2CNG - X-ray MuPIT 2CNH - X-ray MuPIT 2CNI - X-ray MuPIT 2F6F - X-ray MuPIT 2F6T - X-ray MuPIT 2F6V - X-ray MuPIT 2F6W - X-ray MuPIT 2F6Y - X-ray MuPIT 2F6Z - X-ray MuPIT 2F70 - X-ray MuPIT 2F71 - X-ray MuPIT 2FJM - X-ray MuPIT 2FJN - X-ray MuPIT 2H4G - X-ray MuPIT 2H4K - X-ray MuPIT 2HB1 - X-ray MuPIT 2HNP - X-ray MuPIT 2HNQ - X-ray MuPIT 2NT7 - X-ray MuPIT 2NTA - X-ray MuPIT 2QBP - X-ray MuPIT 2QBQ - X-ray MuPIT 2QBR - X-ray MuPIT 2QBS - X-ray MuPIT 2VEU - X-ray MuPIT 2VEV - X-ray MuPIT 2VEW - X-ray MuPIT 2VEX - X-ray MuPIT 2VEY - X-ray MuPIT 2ZMM - X-ray MuPIT 2ZN7 - X-ray MuPIT 3A5J - X-ray MuPIT 3A5K - X-ray MuPIT 3CWE - X-ray MuPIT 3D9C - X-ray MuPIT 3EAX - X-ray MuPIT 3EB1 - X-ray MuPIT 3EU0 - X-ray MuPIT 3I7Z - X-ray MuPIT 3I80 - X-ray MuPIT 3QKP - X-ray MuPIT 3QKQ - X-ray MuPIT 3SME - X-ray MuPIT 3ZV2 - X-ray


ModBase Predicted Comparative 3D Structure on P18031
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0004721 phosphoprotein phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005158 insulin receptor binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity
GO:0019899 enzyme binding
GO:0019901 protein kinase binding
GO:0030971 receptor tyrosine kinase binding
GO:0045296 cadherin binding
GO:0046875 ephrin receptor binding
GO:0051721 protein phosphatase 2A binding

Biological Process:
GO:0006470 protein dephosphorylation
GO:0006987 activation of signaling protein activity involved in unfolded protein response
GO:0007257 activation of JUN kinase activity
GO:0008286 insulin receptor signaling pathway
GO:0009966 regulation of signal transduction
GO:0009968 negative regulation of signal transduction
GO:0016311 dephosphorylation
GO:0030100 regulation of endocytosis
GO:0030948 negative regulation of vascular endothelial growth factor receptor signaling pathway
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0031532 actin cytoskeleton reorganization
GO:0033157 regulation of intracellular protein transport
GO:0034976 response to endoplasmic reticulum stress
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0035791 platelet-derived growth factor receptor-beta signaling pathway
GO:0036498 IRE1-mediated unfolded protein response
GO:0043407 negative regulation of MAP kinase activity
GO:0046626 regulation of insulin receptor signaling pathway
GO:0046627 negative regulation of insulin receptor signaling pathway
GO:0060338 regulation of type I interferon-mediated signaling pathway
GO:0060397 JAK-STAT cascade involved in growth hormone signaling pathway
GO:0061098 positive regulation of protein tyrosine kinase activity
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:1902202 regulation of hepatocyte growth factor receptor signaling pathway
GO:1902236 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
GO:1903896 positive regulation of IRE1-mediated unfolded protein response
GO:1903898 negative regulation of PERK-mediated unfolded protein response
GO:1990264 peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity
GO:2000646 positive regulation of receptor catabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005769 early endosome
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0031410 cytoplasmic vesicle
GO:0097443 sorting endosome
GO:0098554 cytoplasmic side of endoplasmic reticulum membrane
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  LF206034 - JP 2014500723-A/13537: Polycomb-Associated Non-Coding RNAs.
AK290638 - Homo sapiens cDNA FLJ75657 complete cds, highly similar to Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA.
AK316563 - Homo sapiens cDNA, FLJ92897, Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA.
AK299830 - Homo sapiens cDNA FLJ50851 complete cds, highly similar to Tyrosine-protein phosphatase non-receptor type1 (EC 3.1.3.48).
BC015660 - Homo sapiens protein tyrosine phosphatase, non-receptor type 1, mRNA (cDNA clone MGC:23121 IMAGE:4844022), complete cds.
BC018164 - Homo sapiens protein tyrosine phosphatase, non-receptor type 1, mRNA (cDNA clone MGC:17207 IMAGE:4338750), complete cds.
M31724 - Human phosphotyrosyl-protein phosphatase (PTP-1B) mRNA, complete cds.
M33689 - Human (clone lambda-16-1) non-receptor tyrosine phosphatase 1 (PTPN1) mRNA, complete cds.
AB385151 - Synthetic construct DNA, clone: pF1KB5674, Homo sapiens PTPN1 gene for protein tyrosine phosphatase, non-receptor type 1, complete cds, without stop codon, in Flexi system.
BT006752 - Homo sapiens protein tyrosine phosphatase, non-receptor type 1 mRNA, complete cds.
MA441611 - JP 2018138019-A/13537: Polycomb-Associated Non-Coding RNAs.
JD536347 - Sequence 517371 from Patent EP1572962.
LF350708 - JP 2014500723-A/158211: Polycomb-Associated Non-Coding RNAs.
JD338694 - Sequence 319718 from Patent EP1572962.
JD173577 - Sequence 154601 from Patent EP1572962.
LF350709 - JP 2014500723-A/158212: Polycomb-Associated Non-Coding RNAs.
JD493004 - Sequence 474028 from Patent EP1572962.
MA586285 - JP 2018138019-A/158211: Polycomb-Associated Non-Coding RNAs.
MA586286 - JP 2018138019-A/158212: Polycomb-Associated Non-Coding RNAs.
LF350721 - JP 2014500723-A/158224: Polycomb-Associated Non-Coding RNAs.
LF350728 - JP 2014500723-A/158231: Polycomb-Associated Non-Coding RNAs.
LF350730 - JP 2014500723-A/158233: Polycomb-Associated Non-Coding RNAs.
DQ594466 - Homo sapiens piRNA piR-60578, complete sequence.
LF350731 - JP 2014500723-A/158234: Polycomb-Associated Non-Coding RNAs.
JD148932 - Sequence 129956 from Patent EP1572962.
DQ601174 - Homo sapiens piRNA piR-39240, complete sequence.
JD351413 - Sequence 332437 from Patent EP1572962.
JD119062 - Sequence 100086 from Patent EP1572962.
JD389654 - Sequence 370678 from Patent EP1572962.
JD356889 - Sequence 337913 from Patent EP1572962.
JD467893 - Sequence 448917 from Patent EP1572962.
JD398140 - Sequence 379164 from Patent EP1572962.
JD090400 - Sequence 71424 from Patent EP1572962.
JD199016 - Sequence 180040 from Patent EP1572962.
JD263794 - Sequence 244818 from Patent EP1572962.
JD533241 - Sequence 514265 from Patent EP1572962.
JD504971 - Sequence 485995 from Patent EP1572962.
JD246104 - Sequence 227128 from Patent EP1572962.
JD434348 - Sequence 415372 from Patent EP1572962.
JD114902 - Sequence 95926 from Patent EP1572962.
JD316401 - Sequence 297425 from Patent EP1572962.
JD129205 - Sequence 110229 from Patent EP1572962.
JD396668 - Sequence 377692 from Patent EP1572962.
JD442174 - Sequence 423198 from Patent EP1572962.
JD493914 - Sequence 474938 from Patent EP1572962.
LF350734 - JP 2014500723-A/158237: Polycomb-Associated Non-Coding RNAs.
JD466954 - Sequence 447978 from Patent EP1572962.
JD391675 - Sequence 372699 from Patent EP1572962.
JD337214 - Sequence 318238 from Patent EP1572962.
JD292989 - Sequence 274013 from Patent EP1572962.
JD366015 - Sequence 347039 from Patent EP1572962.
JD079026 - Sequence 60050 from Patent EP1572962.
JD383966 - Sequence 364990 from Patent EP1572962.
JD342513 - Sequence 323537 from Patent EP1572962.
JD466908 - Sequence 447932 from Patent EP1572962.
LF350735 - JP 2014500723-A/158238: Polycomb-Associated Non-Coding RNAs.
JD159813 - Sequence 140837 from Patent EP1572962.
JD090777 - Sequence 71801 from Patent EP1572962.
JD299369 - Sequence 280393 from Patent EP1572962.
LF350736 - JP 2014500723-A/158239: Polycomb-Associated Non-Coding RNAs.
MA586298 - JP 2018138019-A/158224: Polycomb-Associated Non-Coding RNAs.
MA586305 - JP 2018138019-A/158231: Polycomb-Associated Non-Coding RNAs.
MA586307 - JP 2018138019-A/158233: Polycomb-Associated Non-Coding RNAs.
MA586308 - JP 2018138019-A/158234: Polycomb-Associated Non-Coding RNAs.
MA586311 - JP 2018138019-A/158237: Polycomb-Associated Non-Coding RNAs.
MA586312 - JP 2018138019-A/158238: Polycomb-Associated Non-Coding RNAs.
MA586313 - JP 2018138019-A/158239: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P18031 (Reactome details) participates in the following event(s):

R-HSA-1168445 PTP1B binds the GH receptor complex
R-HSA-8849428 PTPN1 binds PTK6
R-HSA-8849435 PTPN1 dephosphorylates PTK6
R-HSA-1169210 PTP1B dephosphorylates JAK2
R-HSA-1169192 PTP1B dephosphorylates GHR
R-HSA-377643 Dephosphorylation of inactive SRC by PTPB1
R-HSA-997311 Dephosphorylation of TYK2 by PTP1B
R-HSA-877308 Dephosphorylation of JAKs by PTPs
R-HSA-6807027 PTPN1 and PTPN2 dephosphorylate MET
R-HSA-982772 Growth hormone receptor signaling
R-HSA-8849472 PTK6 Down-Regulation
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-8848021 Signaling by PTK6
R-HSA-354192 Integrin alphaIIb beta3 signaling
R-HSA-912694 Regulation of IFNA signaling
R-HSA-877312 Regulation of IFNG signaling
R-HSA-6807004 Negative regulation of MET activity
R-HSA-168256 Immune System
R-HSA-9006927 Signaling by Non-Receptor Tyrosine Kinases
R-HSA-76009 Platelet Aggregation (Plug Formation)
R-HSA-9006921 Integrin signaling
R-HSA-909733 Interferon alpha/beta signaling
R-HSA-877300 Interferon gamma signaling
R-HSA-6806834 Signaling by MET
R-HSA-162582 Signal Transduction
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-913531 Interferon Signaling
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000371621.1, ENST00000371621.2, ENST00000371621.3, ENST00000371621.4, NM_002827, P18031, PTN1_HUMAN, PTP1B, Q5TGD8, Q9BQV9, Q9NQQ4, uc318jgw.1, uc318jgw.2
UCSC ID: ENST00000371621.5_4
RefSeq Accession: NM_002827.4
Protein: P18031 (aka PTN1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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