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PTPN21 (protein tyrosine phosphatase, non-receptor type 21)

Written2008-02Antonio Feliciello
Dipartimento di Biologia e Patologia Molecolare e Cellulare, Instituto di Endocrinologia ed Oncologia Sperimentale, 80131 Napoli, Italia

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Alias_symbol (synonym)PTPD1
Other alias
HGNC (Hugo) PTPN21
LocusID (NCBI) 11099
Atlas_Id 41916
Location 14q31.3  [Link to chromosome band 14q31]
Location_base_pair Starts at 88465778 and ends at 88554779 bp from pter ( according to hg19-Feb_2009)  [Mapping PTPN21.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)
PTPN21 (14q31.3) / SIPA1L1 (14q24.2)


Transcription cDNA approximately 6.2 kb; at nucleotide 333-335 ATG of transcription initiation sites.
Pseudogene No


Description PTPD1 is a protein of 130 kDa composed 1174 amino acids.
It is constituted by an N-terminal sequence homologous to the Four-point-one Ezrin-Radixin-Moesin (FERM domain) protein family; a C-terminal catalytic domain (PTP) with the essential cysteine residue at position 1108; two putative SH3 domain binding domains (residues 565-574 and 334-343); an acidic region in the residues 712-722; two highly conserved SH2 binding motifs (Y158ESQ and Y217GEE) within the FERm domain that mediate interaction with src tyrosine kinase.
Expression PTPD1 is widely expressed in a variety of tissues including placenta, lung, kidney, colon, skeletal muscle, and in most cell lines (HEK293, fibroblast, MCF-7; T82; B16).
Localisation PTPD1 localizes at the outer mitochondrial membrane, the plasma membrane, Golgi apparatus, endoplasmic reticulum, actin filaments and adhesion plaques.
Function PTPD1 is member of non-receptor tyrosine phosphatases that binds to- and activates src tyrosine kinase. PTPD1/src complex up-regulates epidermal growth factor receptor (EGFR) phosphorylation and increases ERK 1 / ERK 2 signaling in response to EGF. PTPD1 forms a stable complex with actin, src tyrosine kinase and FAK (Focal Adhesion Kinase). PTPD1 regulates FAK signalling and actin cytoskeleton remodelling, and promotes cell scattering and migration. Mitochondrial PTPD1 in complex with AKAP121 and src is required for efficient maintenance of mitochondrial membrane potential and oxidative ATP synthesis. PTPD1 has been also implicated in the regulation of the Tec family kinases and activation of Stat3 signaling pathway.
PTPD1 Interactors: KIF1C kinesin family member 1C, BMX non-receptor tyrosine kinase, Src v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian), TEC tyrosine kinase implicated in the signaling pathways of hematopoietic and antigen receptors, FAK tyrosine kinase of focal adhesion, Actin filaments
Homology PTPD1 belongs to the same family of tyrosine phosphatase PTPH1 and PTPMEG1.

Implicated in

Entity Sporadic colorectal cancer.
Note PTPD1 is overexpressed in MIN (microsatellite instability pathway) colorectal cancer cells lines.


Mitochondrial AKAP121 binds and targets protein tyrosine phosphatase D1, a novel positive regulator of src signaling.
Cardone L, Carlucci A, Affaitati A, Livigni A, DeCristofaro T, Garbi C, Varrone S, Ullrich A, Gottesman ME, Avvedimento EV, Feliciello A
Molecular and cellular biology. 2004 ; 24 (11) : 4613-4626.
PMID 15143158
Protein-tyrosine Phosphatase PTPD1 Regulates Focal Adhesion Kinase Autophosphorylation and Cell Migration.
Carlucci A, Gedressi C, Lignitto L, Nezi L, Villa-Moruzzi E, Avvedimento EV, Gottesman M, Garbi C, Feliciello A
The Journal of biological chemistry. 2008 ; 283 (16) : 10919-10929.
PMID 18223254
Characterization of KIF1C, a new kinesin-like protein involved in vesicle transport from the Golgi apparatus to the endoplasmic reticulum.
Dorner C, Ciossek T, Müller S, M&oring;ller PH, Ullrich A, Lammers R
The Journal of biological chemistry. 1998 ; 273 (32) : 20267-20275.
PMID 9685376
Gene expression differences between the microsatellite instability (MIN) and chromosomal instability (CIN) phenotypes in colorectal cancer revealed by high-density cDNA array hybridization.
Dunican DS, McWilliam P, Tighe O, Parle-McDermott A, Croke DT
Oncogene. 2002 ; 21 (20) : 3253-3257.
PMID 12082642
Protein-tyrosine phosphatase D1, a potential regulator and effector for Tec family kinases.
Jui HY, Tseng RJ, Wen X, Fang HI, Huang LM, Chen KY, Kung HJ, Ann DK, Shih HM
The Journal of biological chemistry. 2000 ; 275 (52) : 41124-41132.
PMID 11013262
Identification of a novel protein tyrosine phosphatase with sequence homology to the cytoskeletal proteins of the band 4.1 family.
L'Abbé D, Banville D, Tong Y, Stocco R, Masson S, Ma S, Fantus G, Shen SH
FEBS letters. 1994 ; 356 (2-3) : 351-356.
PMID 7805871
Mitochondrial AKAP121 links cAMP and src signaling to oxidative metabolism.
Livigni A, Scorziello A, Agnese S, Adornetto A, Carlucci A, Garbi C, Castaldo I, Annunziato L, Avvedimento EV, Feliciello A
Molecular biology of the cell. 2006 ; 17 (1) : 263-271.
PMID 16251349
Src kinase associates with a member of a distinct subfamily of protein-tyrosine phosphatases containing an ezrin-like domain.
M&oring;ller NP, M&oring;ller KB, Lammers R, Kharitonenkov A, Sures I, Ullrich A
Proceedings of the National Academy of Sciences of the United States of America. 1994 ; 91 (16) : 7477-7481.
PMID 7519780


This paper should be referenced as such :
Feliciello, A
PTPN21 (protein tyrosine phosphatase, non-receptor type 21)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):438-439.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(14;14)(q24;q31) PTPN21/SIPA1L1

External links

HGNC (Hugo)PTPN21   9651
Entrez_Gene (NCBI)PTPN21  11099  protein tyrosine phosphatase, non-receptor type 21
AliasesPTPD1; PTPRL10
GeneCards (Weizmann)PTPN21
Ensembl hg19 (Hinxton)ENSG00000070778 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070778 [Gene_View]  chr14:88465778-88554779 [Contig_View]  PTPN21 [Vega]
ICGC DataPortalENSG00000070778
TCGA cBioPortalPTPN21
AceView (NCBI)PTPN21
Genatlas (Paris)PTPN21
SOURCE (Princeton)PTPN21
Genetics Home Reference (NIH)PTPN21
Genomic and cartography
GoldenPath hg38 (UCSC)PTPN21  -     chr14:88465778-88554779 -  14q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTPN21  -     14q31.3   [Description]    (hg19-Feb_2009)
EnsemblPTPN21 - 14q31.3 [CytoView hg19]  PTPN21 - 14q31.3 [CytoView hg38]
Mapping of homologs : NCBIPTPN21 [Mapview hg19]  PTPN21 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AI800682 AK310480 BC143846 BC143847 BM930068
RefSeq transcript (Entrez)NM_007039
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PTPN21
Cluster EST : UnigeneHs.437040 [ NCBI ]
CGAP (NCI)Hs.437040
Alternative Splicing GalleryENSG00000070778
Gene ExpressionPTPN21 [ NCBI-GEO ]   PTPN21 [ EBI - ARRAY_EXPRESS ]   PTPN21 [ SEEK ]   PTPN21 [ MEM ]
Gene Expression Viewer (FireBrowse)PTPN21 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11099
GTEX Portal (Tissue expression)PTPN21
Human Protein AtlasENSG00000070778-PTPN21 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16825   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16825  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16825
Splice isoforms : SwissVarQ16825
Catalytic activity : Enzyme3.1.3.48 [ Enzyme-Expasy ] [ IntEnz-EBI ] [ BRENDA ] [ KEGG ]   
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)PTPN21
DMDM Disease mutations11099
Blocks (Seattle)PTPN21
Human Protein Atlas [tissue]ENSG00000070778-PTPN21 [tissue]
Peptide AtlasQ16825
IPIIPI00004388   IPI01015011   IPI01025796   IPI01025681   
Protein Interaction databases
IntAct (EBI)Q16825
Ontologies - Pathways
Ontology : AmiGOprotein tyrosine phosphatase activity  protein binding  cytoplasm  cytoskeleton  protein dephosphorylation  peptidyl-tyrosine dephosphorylation  
Ontology : EGO-EBIprotein tyrosine phosphatase activity  protein binding  cytoplasm  cytoskeleton  protein dephosphorylation  peptidyl-tyrosine dephosphorylation  
NDEx NetworkPTPN21
Atlas of Cancer Signalling NetworkPTPN21
Wikipedia pathwaysPTPN21
Orthology - Evolution
GeneTree (enSembl)ENSG00000070778
Phylogenetic Trees/Animal Genes : TreeFamPTPN21
Homologs : HomoloGenePTPN21
Homology/Alignments : Family Browser (UCSC)PTPN21
Gene fusions - Rearrangements
Fusion : MitelmanPTPN21/SIPA1L1 [14q31.3/14q24.2]  
Fusion : QuiverPTPN21
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTPN21 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTPN21
Exome Variant ServerPTPN21
ExAC (Exome Aggregation Consortium)ENSG00000070778
GNOMAD BrowserENSG00000070778
Genetic variants : HAPMAP11099
Genomic Variants (DGV)PTPN21 [DGVbeta]
DECIPHERPTPN21 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTPN21 
ICGC Data PortalPTPN21 
TCGA Data PortalPTPN21 
Broad Tumor PortalPTPN21
OASIS PortalPTPN21 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTPN21  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTPN21
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
BioMutasearch PTPN21
DgiDB (Drug Gene Interaction Database)PTPN21
DoCM (Curated mutations)PTPN21 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTPN21 (select a term)
NCG5 (London)PTPN21
Cancer3DPTPN21(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry PTPN21
NextProtQ16825 [Medical]
Target ValidationPTPN21
Huge Navigator PTPN21 [HugePedia]
snp3D : Map Gene to Disease11099
BioCentury BCIQPTPN21
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11099
Chemical/Pharm GKB GenePA33994
Clinical trialPTPN21
canSAR (ICR)PTPN21 (select the gene name)
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Feb 28 14:03:25 CET 2018

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