• Gene id: 5794

Gene Summary

• Gene Symbol: PTPRH   Gene   UCSC   Ensembl
• Aliases: R-PTP-H, SAP1
• Gene name: protein tyrosine phosphatase receptor type H
• Alternate names: receptor-type tyrosine-protein phosphatase H, stomach cancer-associated protein tyrosine phosphatase 1, transmembrane-type protein-tyrosine phosphatase type H,
• Gene location: 19q13.42 (55209505: 55181246)     Exons: 23     NC_000019.10
• 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: 612819

Protein Summary

• Protein general information: Q9HD43  
  • Name: Receptor type tyrosine protein phosphatase H (R PTP H) (EC 3.1.3.48) (Stomach cancer associated protein tyrosine phosphatase 1) (SAP 1) (Transmembrane type protein tyrosine phosphatase type H)
  • Length: 1115  
  • Mass: 122353
  • Tissue specificity: Expressed at high levels in the brain, spleen and liver and at lower levels in the heart and stomach. Expressed in pancreatic and colorectal cancer cells, but not in normal pancreas or colon. Expression in hepatocellular carcinoma is r
• Sequence:

  MAGAGGGLGVWGNLVLLGLCSWTGARAPAPNPGRNLTVETQTTSSISLSWEVPDGLDSQNSNYWVQCTGDGGTTE
  TRNTTATNVTVDGLGPGSLYTCSVWVEKDGVNSSVGTVTTATAPNPVRNLRVEAQTNSSIALTWEVPDGPDPQNS
  TYGVEYTGDGGRAGTRSTAHTNITVDGLEPGCLYAFSMWVGKNGINSSRETRNATTAHNPVRNLRVEAQTTSSIS
  LSWEVPDGTDPQNSTYCVQCTGDGGRTETRNTTDTRVTVDGLGPGSLYTCSVWVEKDGVNSSVEIVTSATAPNPV
  RNLTVEAQTNSSIALTWEVPDGPDPQNSTYGVEYTGDGGRAGTRSTAHTNITVDRLEPGCLYVFSVWVGKNGINS
  SRETRNATTAPNPVRNLHMETQTNSSIALCWEVPDGPYPQDYTYWVEYTGDGGGTETRNTTNTSVTAERLEPGTL
  YTFSVWAEKNGARGSRQNVSISTVPNAVTSLSKQDWTNSTIALRWTAPQGPGQSSYSYWVSWVREGMTDPRTQST
  SGTDITLKELEAGSLYHLTVWAERNEVRGYNSTLTAATAPNEVTDLQNETQTKNSVMLWWKAPGDPHSQLYVYWV
  QWASKGHPRRGQDPQANWVNQTSRTNETWYKVEALEPGTLYNFTVWAERNDVASSTQSLCASTYPDTVTITSCVS
  TSAGYGVNLIWSCPQGGYEAFELEVGGQRGSQDRSSCGEAVSVLGLGPARSYPATITTIWDGMKVVSHSVVCHTE
  SAGVIAGAFVGILLFLILVGLLIFFLKRRNKKKQQKPELRDLVFSSPGDIPAEDFADHVRKNERDSNCGFADEYQ
  QLSLVGHSQSQMVASASENNAKNRYRNVLPYDWSRVPLKPIHEEPGSDYINASFMPGLWSPQEFIATQGPLPQTV
  GDFWRLVWEQQSHTLVMLTNCMEAGRVKCEHYWPLDSQPCTHGHLRVTLVGEEVMENWTVRELLLLQVEEQKTLS
  VRQFHYQAWPDHGVPSSPDTLLAFWRMLRQWLDQTMEGGPPIVHCSAGVGRTGTLIALDVLLRQLQSEGLLGPFS
  FVRKMRESRPLMVQTEAQYVFLHQCILRFLQQSAQAPAEKEVPYEDVENLIYENVAAIQAHKLEV

• Structural information:
  • Protein Domains: (32..12-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (122..20-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (210..29-)
    3 (/note="Fibronectin-type-III)
    (/ev-)
  • Interpro: IPR003961  IPR036116  IPR013783  IPR029021  IPR000242   IPR028855  IPR016130  IPR003595  IPR000387  
  • Prosite: PS50853 PS00383 PS50056 PS50055
  • CDD: cd00063
  • STRING: ENSP00000365528
• Other Databases: GeneCards:  PTPRH  Malacards:  PTPRH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045296	cadherin binding	IPI	molecular function
GO:0006470	protein dephosphorylation	IBA	biological process
GO:0004725	protein tyrosine phosphatase activity	IBA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0005001	transmembrane receptor 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:0042995	cell projection	IEA	cellular component
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005001	transmembrane receptor protein tyrosine phosphatase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	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:1990264	peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity	IEA	biological process
GO:0005902	microvillus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0031528	microvillus membrane	IEA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq