PTPN22

From Wikipedia, the free encyclopedia
  (Redirected from LYP)
Jump to: navigation, search
Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
Protein PTPN22 PDB 2p6x.png
PDB rendering based on 2p6x.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PTPN22 ; LYP; LYP1; LYP2; PEP; PTPN8
External IDs OMIM600716 MGI107170 HomoloGene7498 ChEMBL: 2889 GeneCards: PTPN22 Gene
EC number 3.1.3.48
RNA expression pattern
PBB GE PTPN22 206060 s at tn.png
PBB GE PTPN22 208010 s at tn.png
PBB GE PTPN22 208011 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 26191 19260
Ensembl ENSG00000134242 ENSMUSG00000027843
UniProt Q9Y2R2 P29352
RefSeq (mRNA) NM_001193431 NM_008979
RefSeq (protein) NP_001180360 NP_033005
Location (UCSC) Chr 1:
114.36 – 114.41 Mb
Chr 3:
103.86 – 103.91 Mb
PubMed search [1] [2]

Protein tyrosine phosphatase, non-receptor type 22 (lymphoid), also known as PTPN22, is a protein that in humans is encoded by the PTPN22 gene.[1][2][3] This gene can be expressed in different forms. PTPN22 affects the responsiveness of T and B cell receptors, and mutations are associated with increases or decreases in risks of autoimmune diseases.

Molecular biology[edit]

The gene is located on the short arm of Chromosome 1 near the end (telomere) (1p13.2) on the Crick (minus) strand. It is 57,898 bases in length and encodes a protein of 807 amino acids (molecular weight 91,705 Da). There are 24 exons in the gene and 21 transcript variants encoding 10 distinct proteins are known. The proteins are located in the cytoplasm.[citation needed]

Function[edit]

This gene encodes a protein tyrosine phosphatase which is expressed primarily in lymphoid tissues. This enzyme is involved in several signalling pathways associated with the immune response. Based on models of the murine phosphatase,[4][5] structural identification,[6] and human genetics[7] the phosphatase forms complexes with C-src tyrosine kinase (Csk), associated with the control of Src family members. The mutation Arg620Trp disrupts binding to Csk, alters the responsiveness of T and B cell receptors, and is associated with autoimmune diseases. There are other suggestions that the phosphatase regulates CBL function in the T cell receptor signaling pathway.[1] Other interactions are likely.

Disease association[edit]

The common 1858T (rs2476601) Arg620Trp nonsynonymous single nucleotide polymorphism located in the PTPN22 gene has been associated with autoimmune disorders, including an increased risk of Type 1 Diabetes, rheumatoid arthritis, Systemic Lupus Erythematosus, Vitiligo and Graves' disease, but a decreased risk of Crohn's disease.[8][9]

A recent study suggests that the mutation does not, on a population basis, reduce life span.[10] The mutation may be conserved in human evolution because it may provide a hyper-immune response to infectious disease.[11]

Mutations in CCND3 are implicated in cases of breast cancer.[12]

References[edit]

  1. ^ a b EntrezGene 26191
  2. ^
    1. REDIRECT Template:Cite pmid
  3. ^
    1. REDIRECT Template:Cite pmid
  4. ^
    1. REDIRECT Template:Cite pmid
  5. ^
    1. REDIRECT Template:Cite pmid
  6. ^
    1. REDIRECT Template:Cite pmid
  7. ^
    1. REDIRECT Template:Cite pmid
  8. ^
    1. REDIRECT Template:Cite pmid
  9. ^
    1. REDIRECT Template:Cite pmid
  10. ^
    1. REDIRECT Template:Cite pmid
  11. ^ "PTPN22". NLM (US Gov). Retrieved 5 April 2013. 
  12. ^ The Cancer Genome Atlas Network (2012). "Comprehensive molecular portraits of human breast tumours". Nature (Nature Publishing Group) 490 (7418): 61–70. doi:10.1038/nature11412. PMC 3465532. PMID 23000897. Retrieved 24 September 2012. 

Further reading[edit]

  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid
  1. REDIRECT Template:Cite pmid