• Gene id: 5777

Gene Summary

• Gene Symbol: PTPN6   Gene   UCSC   Ensembl
• Aliases: HCP, HCPH, HPTP1C, PTP-1C, SH-PTP1, SHP-1, SHP-1L, SHP1
• Gene name: protein tyrosine phosphatase non-receptor type 6
• Alternate names: tyrosine-protein phosphatase non-receptor type 6, hematopoietic cell phosphatase, hematopoietic cell protein-tyrosine phosphatase, protein-tyrosine phosphatase 1C, protein-tyrosine phosphatase SHP-1,
• Gene location: 12p13.31 (6946576: 6961315)     Exons: 17     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic tran
• OMIM: 176883

Protein Summary

• Protein general information: P29350  
  • Name: Tyrosine protein phosphatase non receptor type 6 (EC 3.1.3.48) (Hematopoietic cell protein tyrosine phosphatase) (Protein tyrosine phosphatase 1C) (PTP 1C) (Protein tyrosine phosphatase SHP 1) (SH PTP1)
  • Length: 595  
  • Mass: 67561
  • Tissue specificity: Isoform 1 is expressed in hematopoietic cells. Isoform 2 is expressed in non-hematopoietic cells.
• Sequence:

  MVRWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYDLYGGEKFATLTEL
  VEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQPGDFVLSVL
  SDQPKAGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIEN
  RVLELNKKQESEDTAKAGFWEEFESLQKQEVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSD
  YINANYIKNQLLGPDENAKTYIASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYG
  PYSVTNCGEHDTTEYKLRTLQVSPLDNGDLIREIWHYQYLSWPDHGVPSEPGGVLSFLDQINQRQESLPHAGPII
  VHCSAGIGRTGTIIVIDMLMENISTKGLDCDIDIQKTIQMVRAQRSGMVQTEAQYKFIYVAIAQFIETTKKKLEV
  LQSQKGQESEYGNITYPPAMKNAHAKASRTSSKHKEDVYENLHTKNKREEKVKKQRSADKEKSKGSLKRK

• Structural information:
  • Protein Domains: (4..10-)
    (/note="SH2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (110..21-)
    (/note="SH2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (244..51-)
    (/note="Tyrosine-protein-phosphatase)
    (/evidence="ECO:0000255|PROSITE-P-)
  • Interpro: IPR029021  IPR000242  IPR000980  IPR036860  IPR016130   IPR003595  IPR012152  IPR000387  
  • Prosite: PS50001 PS00383 PS50056 PS50055
  • PDB: 1FPR 1GWZ 1X6C 2B3O 2RMX 2YU7 3PS5 4GRY 4GRZ 4GS0 4HJP 4HJQ
  • PDBsum: 1FPR 1GWZ 1X6C 2B3O 2RMX 2YU7 3PS5 4GRY 4GRZ 4GS0 4HJP 4HJQ
  • DIP: 31002
  • STRING: ENSP00000391592
• Other Databases: GeneCards:  PTPN6  Malacards:  PTPN6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004725	protein tyrosine phosphatase activity	IMP	molecular function
GO:0032720	negative regulation of tumor necrosis factor production	ISS	biological process
GO:0032715	negative regulation of interleukin-6 production	ISS	biological process
GO:0070372	regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0030154	cell differentiation	IDA	biological process
GO:0006470	protein dephosphorylation	IDA	biological process
GO:0005001	transmembrane receptor protein tyrosine phosphatase activity	IDA	molecular function
GO:0019901	protein kinase 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: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:0016787	hydrolase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0060338	regulation of type I interferon-mediated signaling pathway	TAS	biological process
GO:0071345	cellular response to cytokine stimulus	TAS	biological process
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0031295	T cell costimulation	TAS	biological process
GO:0035580	specific granule lumen	TAS	cellular component
GO:0050900	leukocyte migration	TAS	biological process
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: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: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:0002924	negative regulation of humoral immune response mediated by circulating immunoglobulin	IEA	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0005911	cell-cell junction	IEA	cellular component
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0030220	platelet formation	IEA	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IEA	biological process
GO:0033277	abortive mitotic cell cycle	IEA	biological process
GO:0033630	positive regulation of cell adhesion mediated by integrin	IEA	biological process
GO:0042130	negative regulation of T cell proliferation	IEA	biological process
GO:0042267	natural killer cell mediated cytotoxicity	IEA	biological process
GO:0050853	B cell receptor signaling pathway	IEA	biological process
GO:1905867	epididymis development	IEA	biological process
GO:0001784	phosphotyrosine residue binding	IEA	molecular function
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0032715	negative regulation of interleukin-6 production	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0035855	megakaryocyte development	IEA	biological process
GO:0042105	alpha-beta T cell receptor complex	IEA	cellular component
GO:0042169	SH2 domain binding	IEA	molecular function
GO:0043407	negative regulation of MAP kinase activity	IEA	biological process
GO:0043409	negative regulation of MAPK cascade	IEA	biological process
GO:0045577	regulation of B cell differentiation	IEA	biological process
GO:0050732	negative regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0050839	cell adhesion molecule binding	IEA	molecular function
GO:0050860	negative regulation of T cell receptor signaling pathway	IEA	biological process
GO:0051279	regulation of release of sequestered calcium ion into cytosol	IEA	biological process
GO:0070527	platelet aggregation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:2000045	regulation of G1/S transition of mitotic cell cycle	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0050732	negative regulation of peptidyl-tyrosine phosphorylation	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001784	phosphotyrosine residue binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0140031	phosphorylation-dependent protein binding	IPI	molecular function
GO:0004725	protein tyrosine phosphatase activity	IMP	molecular function
GO:0008285	negative regulation of cell population proliferation	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001784	phosphotyrosine residue binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032991	protein-containing complex	IMP	cellular component
GO:0140031	phosphorylation-dependent protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035335	peptidyl-tyrosine dephosphorylation	IMP	biological process
GO:0001784	phosphotyrosine residue 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

KEGG pathways

Pathway id	Pathway name
hsa05130	Pathogenic Escherichia coli infection
hsa05205	Proteoglycans in cancer
hsa04630	JAK-STAT signaling pathway
hsa04650	Natural killer cell mediated cytotoxicity
hsa04660	T cell receptor signaling pathway
hsa04662	B cell receptor signaling pathway
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa04520	Adherens junction
hsa05140	Leishmaniasis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray