• Gene id: 25930

Gene Summary

• Gene Symbol: PTPN23   Gene   UCSC   Ensembl
• Aliases: HD-PTP, HDPTP, PTP-TD14
• Gene name: protein tyrosine phosphatase non-receptor type 23
• Alternate names: tyrosine-protein phosphatase non-receptor type 23, his domain-containing protein tyrosine phosphatase, protein tyrosine phosphatase TD14,
• Gene location: 3p21.31 (229271061: 229305893)     Exons: 8     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN)
• OMIM: 606584

Protein Summary

• Protein general information: Q9H3S7  
  • Name: Tyrosine protein phosphatase non receptor type 23 (EC 3.1.3.48) (His domain containing protein tyrosine phosphatase) (HD PTP) (Protein tyrosine phosphatase TD14) (PTP TD14)
  • Length: 1636  
  • Mass: 178974
• Sequence:

  MEAVPRMPMIWLDLKEAGDFHFQPAVKKFVLKNYGENPEAYNEELKKLELLRQNAVRVPRDFEGCSVLRKYLGQL
  HYLQSRVPMGSGQEAAVPVTWTEIFSGKSVAHEDIKYEQACILYNLGALHSMLGAMDKRVSEEGMKVSCTHFQCA
  AGAFAYLREHFPQAYSVDMSRQILTLNVNLMLGQAQECLLEKSMLDNRKSFLVARISAQVVDYYKEACRALENPD
  TASLLGRIQKDWKKLVQMKIYYFAAVAHLHMGKQAEEQQKFGERVAYFQSALDKLNEAIKLAKGQPDTVQDALRF
  TMDVIGGKYNSAKKDNDFIYHEAVPALDTLQPVKGAPLVKPLPVNPTDPAVTGPDIFAKLVPMAAHEASSLYSEE
  KAKLLREMMAKIEDKNEVLDQFMDSMQLDPETVDNLDAYSHIPPQLMEKCAALSVRPDTVRNLVQSMQVLSGVFT
  DVEASLKDIRDLLEEDELLEQKFQEAVGQAGAISITSKAELAEVRREWAKYMEVHEKASFTNSELHRAMNLHVGN
  LRLLSGPLDQVRAALPTPALSPEDKAVLQNLKRILAKVQEMRDQRVSLEQQLRELIQKDDITASLVTTDHSEMKK
  LFEEQLKKYDQLKVYLEQNLAAQDRVLCALTEANVQYAAVRRVLSDLDQKWNSTLQTLVASYEAYEDLMKKSQEG
  RDFYADLESKVAALLERTQSTCQAREAARQQLLDRELKKKPPPRPTAPKPLLPRREESEAVEAGDPPEELRSLPP
  DMVAGPRLPDTFLGSATPLHFPPSPFPSSTGPGPHYLSGPLPPGTYSGPTQLIQPRAPGPHAMPVAPGPALYPAP
  AYTPELGLVPRSSPQHGVVSSPYVGVGPAPPVAGLPSAPPPQFSGPELAMAVRPATTTVDSIQAPIPSHTAPRPN
  PTPAPPPPCFPVPPPQPLPTPYTYPAGAKQPIPAQHHFSSGIPAGFPAPRIGPQPQPHPQPHPSQAFGPQPPQQP
  LPLQHPHLFPPQAPGLLPPQSPYPYAPQPGVLGQPPPPLHTQLYPGPAQDPLPAHSGALPFPSPGPPQPPHPPLA
  YGPAPSTRPMGPQAAPLTIRGPSSAGQSTPSPHLVPSPAPSPGPGPVPPRPPAAEPPPCLRRGAAAADLLSSSPE
  SQHGGTQSPGGGQPLLQPTKVDAAEGRRPQALRLIERDPYEHPERLRQLQQELEAFRGQLGDVGALDTVWRELQD
  AQEHDARGRSIAIARCYSLKNRHQDVMPYDSNRVVLRSGKDDYINASCVEGLSPYCPPLVATQAPLPGTAADFWL
  MVHEQKVSVIVMLVSEAEMEKQKVARYFPTERGQPMVHGALSLALSSVRSTETHVERVLSLQFRDQSLKRSLVHL
  HFPTWPELGLPDSPSNLLRFIQEVHAHYLHQRPLHTPIIVHCSSGVGRTGAFALLYAAVQEVEAGNGIPELPQLV
  RRMRQQRKHMLQEKLHLRFCYEAVVRHVEQVLQRHGVPPPCKPLASASISQKNHLPQDSQDLVLGGDVPISSIQA
  TIAKLSIRPPGGLESPVASLPGPAEPPGLPPASLPESTPIPSSSPPPLSSPLPEAPQPKEEPPVPEAPSSGPPSS
  SLELLASLTPEAFSLDSSLRGKQRMSKHNFLQAHNGQGLRATRPSDDPLSLLDPLWTLNKT

• Structural information:
  • Protein Domains: (8..39-)
    (/note="BRO1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00526-)
    (1192..145-)
    (/note="Tyrosine-protein-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00160"-)
  • Interpro: IPR025304  IPR004328  IPR038499  IPR029021  IPR000242   IPR016130  IPR003595  IPR000387  
  • Prosite: PS51180 PS00383 PS50056 PS50055
  • PDB: 3RAU 5CRU 5CRV 5LM1 5LM2 5MJY 5MJZ 5MK0 5MK1 5MK2 5MK3
  • PDBsum: 3RAU 5CRU 5CRV 5LM1 5LM2 5MJY 5MJZ 5MK0 5MK1 5MK2 5MK3
  • DIP: 29923
  • STRING: ENSP00000265562
• Other Databases: GeneCards:  PTPN23  Malacards:  PTPN23

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0043162	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016791	phosphatase activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0032456	endocytic recycling	IMP	biological process
GO:0045022	early endosome to late endosome transport	IMP	biological process
GO:0061357	positive regulation of Wnt protein secretion	IMP	biological process
GO:0071345	cellular response to cytokine stimulus	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:2000643	positive regulation of early endosome to late endosome transport	IMP	biological process
GO:1903387	positive regulation of homophilic cell adhesion	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:1903393	positive regulation of adherens junction organization	IMP	biological process
GO:0010633	negative regulation of epithelial cell migration	IMP	biological process
GO:0004725	protein tyrosine phosphatase activity	IMP	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq