Human Gene PTPN13 (ENST00000411767.7_6) from GENCODE V47lift37
  Description: protein tyrosine phosphatase non-receptor type 13, transcript variant 1 (from RefSeq NM_080683.3)
Gencode Transcript: ENST00000411767.7_6
Gencode Gene: ENSG00000163629.13_10
Transcript (Including UTRs)
   Position: hg19 chr4:87,515,468-87,736,314 Size: 220,847 Total Exon Count: 48 Strand: +
Coding Region
   Position: hg19 chr4:87,556,410-87,735,704 Size: 179,295 Coding Exon Count: 47 

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 (chr4:87,515,468-87,736,314)mRNA (may differ from genome)Protein (2485 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PTN13_HUMAN
DESCRIPTION: RecName: Full=Tyrosine-protein phosphatase non-receptor type 13; EC=3.1.3.48; AltName: Full=Fas-associated protein-tyrosine phosphatase 1; Short=FAP-1; AltName: Full=PTP-BAS; AltName: Full=Protein-tyrosine phosphatase 1E; Short=PTP-E1; Short=hPTPE1; AltName: Full=Protein-tyrosine phosphatase PTPL1;
FUNCTION: Tyrosine phosphatase which regulates negatively FAS- induced apoptosis and NGFR-mediated pro-apoptotic signaling.
CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
SUBUNIT: Interacts with TRIP6 and TNFRSF6 (Fas receptor) through its second PDZ domain. Interacts with the C-terminal SVP motif of NGFR through its third PDZ domain. Interacts with the LIM domain of PDLIM4 through its second and fourth PDZ domains. Binds PLEKHA1 and PLEKHA2 through its first PDZ domain. Interacts with BRD7 and ARHGAP29. Interacts (via PDZ 3 domain) with PKN2 (via C-terminus).
INTERACTION: Q9BUL8:PDCD10; NbExp=3; IntAct=EBI-355227, EBI-740195;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Nucleus. Cell projection, lamellipodium. Note=Colocalizes with PKN2 in lamellipodia-like structure, regions of large actin turnover.
TISSUE SPECIFICITY: Present in most tissues with the exception of the liver and skeletal muscle. Most abundant in lung, kidney and fetal brain.
SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.
SIMILARITY: Contains 1 FERM domain.
SIMILARITY: Contains 1 KIND domain.
SIMILARITY: Contains 5 PDZ (DHR) domains.
SIMILARITY: Contains 1 tyrosine-protein phosphatase domain.
SEQUENCE CAUTION: Sequence=AAH39610.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PTPN13ID41912ch4q21.html";

-  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: PTPN13
Diseases sorted by gene-association score: amyloidosis, hereditary, transthyretin-related (6), tropical spastic paraparesis (6), colorectal cancer (1)

-  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: 22.12 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 333.24 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 -240.70480-0.501 Picture PostScript Text
3' UTR -115.70610-0.190 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
IPR019749 - Band_41_domain
IPR019750 - Band_41_fam
IPR014352 - FERM/acyl-CoA-bd_prot_3-hlx
IPR019748 - FERM_central
IPR000299 - FERM_domain
IPR018979 - FERM_N
IPR018980 - FERM_PH-like_C
IPR011019 - KIND
IPR003100 - PAZ
IPR001478 - PDZ
IPR011993 - PH_like_dom
IPR000387 - Tyr/Dual-specificity_Pase
IPR012153 - Tyr_Pase_non-rcpt_typ-13
IPR000242 - Tyr_Pase_rcpt/non-rcpt

Pfam Domains:
PF00102 - Protein-tyrosine phosphatase
PF00373 - FERM central domain
PF00595 - PDZ domain
PF09379 - FERM N-terminal domain
PF09380 - FERM C-terminal PH-like domain
PF16599 - Unstructured linker region on PTN13 protein between PDZ
PF17820 - PDZ domain

SCOP Domains:
47031 - Second domain of FERM
50156 - PDZ domain-like
50729 - PH domain-like
52799 - (Phosphotyrosine protein) phosphatases II
56112 - Protein kinase-like (PK-like)
54236 - Ubiquitin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1D5G - NMR MuPIT 1Q7X - NMR MuPIT 1WCH - X-ray MuPIT 3LNX - X-ray MuPIT 3LNY - X-ray MuPIT 3PDZ - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q12923
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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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004721 phosphoprotein phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity
GO:0036312 phosphatidylinositol 3-kinase regulatory subunit binding

Biological Process:
GO:0006470 protein dephosphorylation
GO:0006661 phosphatidylinositol biosynthetic process
GO:0014066 regulation of phosphatidylinositol 3-kinase signaling
GO:0016311 dephosphorylation
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0071345 cellular response to cytokine stimulus

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0030027 lamellipodium
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0044297 cell body
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK056151 - Homo sapiens cDNA FLJ31589 fis, clone NT2RI2002266, highly similar to Protein tyrosine phosphatase (PTP-BAS, type 1).
BC139915 - Homo sapiens cDNA clone IMAGE:40148027.
X80289 - H.sapiens PTPL1 mRNA for protein tyrosine phosphatase.
D21209 - Homo sapiens PTP-BAS mRNA for protein tyrosine phosphatase type 1, complete cds.
D21210 - Homo sapiens PTP-BAS mRNA for protein tyrosine phosphatase type 2, complete cds.
D21211 - Homo sapiens PTP-BAS mRNA for protein tyrosine phosphatase type 3, complete cds.
U12128 - Human protein tyrosine phosphatase 1E (PTP1E) mRNA, complete cds.
BC140777 - Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase), mRNA (cDNA clone MGC:176454 IMAGE:9021645), complete cds.
BC144520 - Homo sapiens cDNA clone IMAGE:9053047, containing frame-shift errors.
AB208904 - Homo sapiens mRNA for protein tyrosine phosphatase, non-receptor type 13 isoform 2 variant protein.
X79676 - H.sapiens PNP1 mRNA.
L34583 - Homo sapiens (clone HFAP10) tyrosine phosphatase mRNA, partial cds.
AF233323 - Homo sapiens Fas-associated phosphatase-1 mRNA, partial cds.
BC039610 - Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase), mRNA (cDNA clone IMAGE:5495336), partial cds.
U12132 - Human protein-tyrosine phosphatase (hPTP1E) mRNA, 5' UTR.
U12129 - Human protein-tyrosine phosphatase (hPTP1E) mRNA, 5'UTR sequence.
U12130 - Human protein-tyrosine phosphatase (hPTP1E) mRNA, 5'UTR sequence.
U12131 - Human protein-tyrosine phosphatase (hPTP1E) mRNA, 5'UTR sequence.
JD384896 - Sequence 365920 from Patent EP1572962.
BX647553 - Homo sapiens mRNA; cDNA DKFZp686J1497 (from clone DKFZp686J1497).
JD187269 - Sequence 168293 from Patent EP1572962.
JD149156 - Sequence 130180 from Patent EP1572962.
JD383055 - Sequence 364079 from Patent EP1572962.
JD383056 - Sequence 364080 from Patent EP1572962.
JD064845 - Sequence 45869 from Patent EP1572962.
JD448824 - Sequence 429848 from Patent EP1572962.
JD504454 - Sequence 485478 from Patent EP1572962.
JD361728 - Sequence 342752 from Patent EP1572962.
JD237701 - Sequence 218725 from Patent EP1572962.
JD359296 - Sequence 340320 from Patent EP1572962.
JD528253 - Sequence 509277 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_fasPathway - FAS signaling pathway ( CD95 )

Reactome (by CSHL, EBI, and GO)

Protein Q12923 (Reactome details) participates in the following event(s):

R-HSA-8870332 PTPN13:PLEKHA1,2 bind PI(3,4)P2
R-HSA-9008059 Interleukin-37 signaling
R-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-446652 Interleukin-1 family signaling
R-HSA-1483255 PI Metabolism
R-HSA-449147 Signaling by Interleukins
R-HSA-1483257 Phospholipid metabolism
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-556833 Metabolism of lipids
R-HSA-168256 Immune System
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2RTR0, ENST00000411767.1, ENST00000411767.2, ENST00000411767.3, ENST00000411767.4, ENST00000411767.5, ENST00000411767.6, NM_080683, PNP1, PTN13_HUMAN, PTP1E, PTPL1, Q12923, Q15159, Q15263, Q15264, Q15265, Q15674, Q16826, Q8IWH7, Q9NYN9, Q9UDA8, uc319hvg.1, uc319hvg.2
UCSC ID: ENST00000411767.7_6
RefSeq Accession: NM_080683.3
Protein: Q12923 (aka PTN13_HUMAN or PTND_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.