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PTPN14 (protein tyrosine phosphatase, non-receptor type 14)

Written2013-01Nicholas Hauschild, Leila Belle, Yeesim Khew-Goodall
Centre for Cancer Biology, SA Pathology, Adelaide, Australia

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)PEZ
Other aliasPTP36
HGNC (Hugo) PTPN14
LocusID (NCBI) 5784
Atlas_Id 41913
Location 1q41  [Link to chromosome band 1q41]
Location_base_pair Starts at 214348696 and ends at 214551681 bp from pter ( according to hg19-Feb_2009)  [Mapping PTPN14.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MCCC1 (3q27.1) / PTPN14 (1q41)PCNX2 (1q42.2) / PTPN14 (1q32.3)PCNX2 (1q42.2) / PTPN14 (1q41)
PEX14 (1p36.22) / PTPN14 (1q41)PTPN14 (1q32.3) / ANKRD44 (2q33.1)PTPN14 (1q41) / ANKRD44 (2q33.1)
PTPN14 (1q41) / NLRP11 (19q13.42)PTPN14 (1q41) / PTPN14 (1q41)ZCCHC4 (4p15.2) / PTPN14 (1q41)

DNA/RNA

 
  Genomic and transcript structure of human PTPN14. A. The genomic arrangement of PTPN14 with vertical bars depicting the location and relative size of exons. Space between exons depicts relative sizes of introns/non-coding regions. B. The mature transcript arrangement of PTPN14. Exons are numbered and coding regions are depicted in light brown, with non-coding regions depicted in red. C. PTPN14 exon length and coding status.
Description The PTPN14 gene consists of 19 exons and 21 introns divided over 203 kb, including a coding region and 5' and 3' non-coding regions.
Transcription The PTPN14 transcript is processed into a mature mRNA in excess of 10 kb, estimated by Northern blot analysis (Smith et al., 1995). The mature transcript has a 3561 nucleotide open reading frame and ~9,2 kb 3' UTR followed by a polyadenylation site. No transcript variants have been identified.
Little investigation has been undertaken to elucidate the factors regulating PTPN14 transcription. However, real-time PCR and ChIP sequencing have shown that p63 induces PTPN14 expression by binding to a p63 consensus sequence within intron 3 of PTPN14 (Perez et al., 2007).

Protein

 
  Protein structure of PTPN14. A schematic of PTPN14 protein highlighting putative nuclear / mitochondrial localisation signals (red/grey box), the band 4.1 ezrin, radixin, meosin (FERM) homology domain (red), and the tyrosine-phosphatase (PTP) catalytic domain (blue). The linker region also contains an acidic region as well as two PPxY motifs.
Description PTPN14 is an 1187 amino acid non-receptor protein tyrosine phosphatase of approximately 135 kDa. It possesses an N-terminal FERM (band 4.1, ezrin, radixin, moesin homology) domain and C-terminal catalytic domain, as well as acidic and proline-rich regions in its central uncharacterised region (Smith et al., 1995).
FERM domain: the FERM domain has been shown in other proteins to be important for cytoskeletal association; however a role for the FERM domain in the PTPN14 protein has yet to be described.
Catalytic PTP domain: the crystal structure of the PTPN14 catalytic C-terminal PTP domain has been solved (Barr et al., 2006).
PPxY motifs: Pez contains two PPxY motifs in its central region. These motifs are known to facilitate binding to proteins containing WW domains. Indeed, both PPxY motifs in PTPN14 are critical for binding KIBRA and YAP, components of the Hippo signalling pathway that contain WW domains (Liu et al., 2013; Poernbacher et al., 2012).
Mitochondrial localisation signal: PTPN14 contains a putative mitochondrial localisation signal (MitoProt II), and may be localised to mitochondria in some cell types (Chao et al., 2011).
 
  Expression of PTPN14.
Localisation PTPN14 protein has been reported to localise to adherens junctions in confluent human umbilical vein endothelial cells (HUVEC) and translocate to the nucleus in sub-confluent, proliferating HUVEC (Wadham et al., 2000; Wadham et al., 2003). Localisation to the golgi apparatus in epithelial cell types (Wyatt and Khew-Goodall, 2008) and mitochondria in human sperm has also been reported (Chao et al., 2011).
Function PTPN14 intracellular signaling pathways/processes
Adherens junction integrity: PTPN14 protein has been reported to dephosphorylate the adherens junction protein beta-catenin. Over-expression of a dominant-negative form of PTPN14 caused an increase in phosphorylation at adherens junctions (Wadham et al., 2003), an event linked to adherence junction destabilisation.
TGF-β: PTPN14 promotes epithelial-mesenchymal transition (EMT) via increased TGF-beta production in MDCK epithelial cells (Wyatt et al., 2007)
Lymphangiogenesis: PTPN14 forms a complex with VEGFR3 and is required for normal lymphangiogenesis in human and mouse models (Au et al., 2010).
Hippo signalling: PTPN14 has been shown to interact with Kibra/WWC1 (Poernbacher et al., 2012; Wang et al., 2012) and YAP (Liu et al., 2013; Huang et al., 2012; Wang et al., 2012), two members of the Hippo signalling pathway. In Drosophila, PTPN14 interacts with Kibra via a PPxY:WW domain interaction, to negatively regulate the transcriptional activity of the downstream effector Yorkie, resulting in a decrease in intestinal stem cell proliferation (Poernbacher et al., 2012). Pez interacts with YAP (the mammalian homolog of Drosophila Yorkie), also via a PPxY:WW domain interaction, and regulates its activity by controlling YAP cytoplasmic retention (resulting in a loss of transcription of YAP target genes) (Liu et al., 2013, Huang et al., 2012, Wang et al., 2012).
Mast cell degranulation: PTPN14 siRNA mediated knock-down in mast cells caused a decrease in IgE dependent mast cell degranulation (Zhang et al., 2010).
Homology PTPN14 belongs to a FERM domain-containing family of non-receptor protein tyrosine phosphatases including PTPN3 (PTPH1), PTPN4 (PTP-MEG1), PTPN13 (PTP-BAS / FAP-1) and PTPN21 (PTPD2). PTPN14 displays a higher degree of homology to PTPN21 than other members of this sub-family (Smith et al., 1995; Alonso et al., 2004).

Mutations

Germinal A deletion in PTPN14 has been described in a kindred with inherited lymphedema-choanal atresia syndrome, characterised by defects in lymphatic vasculature (Au et al., 2010).
Somatic Missense mutations in PTPN14 have been reported in sporadic human colorectal cancers (Wang et al., 2004), breast cancers (Sjöblom et al., 2006), and HCV-associated hepatocellular carcinoma (Li et al., 2011).

Implicated in

Note
  
Entity Various cancers
Note Several studies have identified mutations associated with PTPN14 in colorectal (Wang et al., 2004), breast (Sjöblom et al., 2006) and liver cancers (Li et al., 2011), although the functional consequences of these mutations are yet to be determined.
  
  
Entity Colorectal cancer
Note PTPN14 has been shown to interact with and de-phosphorylate residue Y128 of p130 Crk-associated substrate (p130Cas) in colorectal cancer cells (CRC) (Zhang et al., 2012). CRC homozygous for a non-phosphorylatable Y128F mutant form of p130Cas display a reduction in migration,anchorage-independent growth and xenograft tumor growth in nude mice, suggesting that Pez, via p130Cas Y128 dephosphorylation, may function as a tumour suppressor in colorectal cancer.
  
  
Entity Pancreatic cancer
Note PTPN14 expression was found to be lower in liver metastases compared to primary tumours in an orthotopic transplantation model of pancreatic adenocarcinoma (Niedergethmann et al., 2007), implicating PTPN14 as a suppressor of metastasis in this model.
  
  
Entity Epithelial-mesenchymal transition
Note Over-expression of PTPN14 in epithelial cells (MDCK) resulted in increased TGF-beta secretion and subsequent induction of epithelial-mesenchymal transition (EMT) (Wyatt et al., 2007).
  
  
Entity Sperm motility
Note PTPN14 expression in human sperm was correlated with motility, where moderate-motility sperm had less PTPN14 expression than highly-motile sperm (Chao et al., 2011).
  
  
Entity Lymphedema-choanal atresia syndrome
Note Analyses of a kindred with autosomal-recessive lyphedema-choanal atresia syndrome showed a loss of function mutation in PTPN14. PTPN14-/- mice developed lymphatic hyperplasia with lymphedema. PTPN14 was also shown to interact with VEGFR3, a signalling receptor essential to lymphangiogenesis (Au et al., 2010).
  
  
Entity Hereditary haemorrhagic telangiectasia
Note PTPN14 maps to a chromosomal region that modifies the penetrance of a vascular dysgenesis phenotype in Tgfb1-/- mice, and can modulate angiogenesis in 3D primary endothelial cell culture (Benzinou et al., 2012), suggesting that Pez contributes to angiogenesis, possibly an interaction with the TGF-beta signalling pathway.
  

Bibliography

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Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans.
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YAP modifies cancer cell sensitivity to EGFR and survivin inhibitors and is negatively regulated by the non-receptor type protein tyrosine phosphatase 14.
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PTPN14 interacts with and negatively regulates the oncogenic function of YAP.
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Gene expression profiling of liver metastases and tumour invasion in pancreatic cancer using an orthotopic SCID mouse model.
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The consensus coding sequences of human breast and colorectal cancers.
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PTPN14 is required for the density-dependent control of YAP1.
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Citation

This paper should be referenced as such :
Hauschild, N ; Belle, L ; Khew-Goodall, Y
PTPN14 (protein tyrosine phosphatase, non-receptor type 14)
Atlas Genet Cytogenet Oncol Haematol. 2013;17(7):462-466.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/PTPN14ID41913ch1q32.html


External links

Nomenclature
HGNC (Hugo)PTPN14   9647
Cards
AtlasPTPN14ID41913ch1q32
Entrez_Gene (NCBI)PTPN14  5784  protein tyrosine phosphatase, non-receptor type 14
AliasesPEZ; PTP36
GeneCards (Weizmann)PTPN14
Ensembl hg19 (Hinxton)ENSG00000152104 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152104 [Gene_View]  chr1:214348696-214551681 [Contig_View]  PTPN14 [Vega]
ICGC DataPortalENSG00000152104
TCGA cBioPortalPTPN14
AceView (NCBI)PTPN14
Genatlas (Paris)PTPN14
WikiGenes5784
SOURCE (Princeton)PTPN14
Genetics Home Reference (NIH)PTPN14
Genomic and cartography
GoldenPath hg38 (UCSC)PTPN14  -     chr1:214348696-214551681 -  1q32.3-q41   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTPN14  -     1q32.3-q41   [Description]    (hg19-Feb_2009)
EnsemblPTPN14 - 1q32.3-q41 [CytoView hg19]  PTPN14 - 1q32.3-q41 [CytoView hg38]
Mapping of homologs : NCBIPTPN14 [Mapview hg19]  PTPN14 [Mapview hg38]
OMIM603155   613611   
Gene and transcription
Genbank (Entrez)AF086517 AK056963 AK090596 AK291641 AK298120
RefSeq transcript (Entrez)NM_005401
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PTPN14
Cluster EST : UnigeneHs.688910 [ NCBI ]
CGAP (NCI)Hs.688910
Alternative Splicing GalleryENSG00000152104
Gene ExpressionPTPN14 [ NCBI-GEO ]   PTPN14 [ EBI - ARRAY_EXPRESS ]   PTPN14 [ SEEK ]   PTPN14 [ MEM ]
Gene Expression Viewer (FireBrowse)PTPN14 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5784
GTEX Portal (Tissue expression)PTPN14
Human Protein AtlasENSG00000152104-PTPN14 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15678   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15678  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15678
Splice isoforms : SwissVarQ15678
Catalytic activity : Enzyme3.1.3.48 [ Enzyme-Expasy ]   3.1.3.483.1.3.48 [ IntEnz-EBI ]   3.1.3.48 [ BRENDA ]   3.1.3.48 [ KEGG ]   
PhosPhoSitePlusQ15678
Domaine pattern : Prosite (Expaxy)FERM_1 (PS00660)    FERM_2 (PS00661)    FERM_3 (PS50057)    TYR_PHOSPHATASE_1 (PS00383)    TYR_PHOSPHATASE_2 (PS50056)    TYR_PHOSPHATASE_PTP (PS50055)   
Domains : Interpro (EBI)Band_41_domain    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_CS    FERM_domain    FERM_N    FERM_PH-like_C    PH_dom-like    Prot-tyrosine_phosphatase-like    PTPase_domain    Tyr_Pase_AS    Tyr_Pase_cat    Tyr_Pase_non-rcpt_typ-14/21    TYR_PHOSPHATASE_dom    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)FERM_C (PF09380)    FERM_M (PF00373)    FERM_N (PF09379)    Y_phosphatase (PF00102)   
Domain families : Pfam (NCBI)pfam09380    pfam00373    pfam09379    pfam00102   
Domain families : Smart (EMBL)B41 (SM00295)  FERM_C (SM01196)  PTPc (SM00194)  PTPc_motif (SM00404)  
Conserved Domain (NCBI)PTPN14
DMDM Disease mutations5784
Blocks (Seattle)PTPN14
PDB (SRS)2BZL   
PDB (PDBSum)2BZL   
PDB (IMB)2BZL   
PDB (RSDB)2BZL   
Structural Biology KnowledgeBase2BZL   
SCOP (Structural Classification of Proteins)2BZL   
CATH (Classification of proteins structures)2BZL   
SuperfamilyQ15678
Human Protein Atlas [tissue]ENSG00000152104-PTPN14 [tissue]
Peptide AtlasQ15678
HPRD04402
IPIIPI00018914   IPI00973151   
Protein Interaction databases
DIP (DOE-UCLA)Q15678
IntAct (EBI)Q15678
FunCoupENSG00000152104
BioGRIDPTPN14
STRING (EMBL)PTPN14
ZODIACPTPN14
Ontologies - Pathways
QuickGOQ15678
Ontology : AmiGOlymphangiogenesis  transcription cofactor activity  protein tyrosine phosphatase activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytoskeleton  transcription, DNA-templated  regulation of transcription, DNA-templated  protein dephosphorylation  negative regulation of cell proliferation  receptor tyrosine kinase binding  peptidyl-tyrosine dephosphorylation  regulation of protein export from nucleus  
Ontology : EGO-EBIlymphangiogenesis  transcription cofactor activity  protein tyrosine phosphatase activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytoskeleton  transcription, DNA-templated  regulation of transcription, DNA-templated  protein dephosphorylation  negative regulation of cell proliferation  receptor tyrosine kinase binding  peptidyl-tyrosine dephosphorylation  regulation of protein export from nucleus  
NDEx NetworkPTPN14
Atlas of Cancer Signalling NetworkPTPN14
Wikipedia pathwaysPTPN14
Orthology - Evolution
OrthoDB5784
GeneTree (enSembl)ENSG00000152104
Phylogenetic Trees/Animal Genes : TreeFamPTPN14
HOVERGENQ15678
HOGENOMQ15678
Homologs : HomoloGenePTPN14
Homology/Alignments : Family Browser (UCSC)PTPN14
Gene fusions - Rearrangements
Fusion : MitelmanPCNXL2/PTPN14 [1q42.2/1q41]  [t(1;1)(q41;q42)]  
Fusion : MitelmanPTPN14/ANKRD44 [1q41/2q33.1]  [t(1;2)(q41;q33)]  
Fusion: TCGA_MDACCPCNXL2 1q42.2 PTPN14 1q41 BRCA
Fusion: TCGA_MDACCPTPN14 1q41 ANKRD44 2q33.1 OV
Tumor Fusion PortalPTPN14
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTPN14 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTPN14
dbVarPTPN14
ClinVarPTPN14
1000_GenomesPTPN14 
Exome Variant ServerPTPN14
ExAC (Exome Aggregation Consortium)ENSG00000152104
GNOMAD BrowserENSG00000152104
Genetic variants : HAPMAP5784
Genomic Variants (DGV)PTPN14 [DGVbeta]
DECIPHERPTPN14 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTPN14 
Mutations
ICGC Data PortalPTPN14 
TCGA Data PortalPTPN14 
Broad Tumor PortalPTPN14
OASIS PortalPTPN14 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTPN14  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTPN14
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Vascular Anomaly and Lymphedema Mutation Database
BioMutasearch PTPN14
DgiDB (Drug Gene Interaction Database)PTPN14
DoCM (Curated mutations)PTPN14 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTPN14 (select a term)
intoGenPTPN14
NCG5 (London)PTPN14
Cancer3DPTPN14(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603155    613611   
Orphanet
DisGeNETPTPN14
MedgenPTPN14
Genetic Testing Registry PTPN14
NextProtQ15678 [Medical]
TSGene5784
GENETestsPTPN14
Target ValidationPTPN14
Huge Navigator PTPN14 [HugePedia]
snp3D : Map Gene to Disease5784
BioCentury BCIQPTPN14
ClinGenPTPN14
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5784
Chemical/Pharm GKB GenePA33989
Clinical trialPTPN14
Miscellaneous
canSAR (ICR)PTPN14 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTPN14
EVEXPTPN14
GoPubMedPTPN14
iHOPPTPN14
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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