Predicate | Object |
---|---|
rdf:type | |
biopax3:comment |
FUNCTION: Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity (By similarity). CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. SUBUNIT: Binds GANAB and PRKCSH (By similarity). Interacts with SKAP1. Interacts with DPP4; the interaction is enhanced in a interleukin-12-dependent manner in activated lymphocytes. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Membrane raft. Note=Colocalized with DPP4 in membrane rafts. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Comment=At least 8 isoforms are produced; Name=1; IsoId=P08575-1; Sequence=Displayed; Name=2; IsoId=P08575-2; Sequence=VSP_007780; DOMAIN: The first PTPase domain interacts with SKAP1. PTM: Heavily N- and O-glycosylated. DISEASE: Defects in PTPRC are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell- positive/NK-cell-positive (T(-)B(+)NK(+) SCID) [MIM:608971]. A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. DISEASE: Genetic variations in PTPRC are involved in multiple sclerosis susceptibility (MS) [MIM:126200]. MS is a neurodegenerative disorder characterized by the gradual accumulation of focal plaques of demyelination particularly in the periventricular areas of the brain. Peripheral nerves are not affected. Onset usually in third or fourth decade with intermittent progression over an extended period. The cause is still uncertain. SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Receptor class 1/6 subfamily. SIMILARITY: Contains 2 fibronectin type-III domains. SIMILARITY: Contains 2 tyrosine-protein phosphatase domains. WEB RESOURCE: Name=PTPRCbase; Note=PTPRC mutation db; URL="http://bioinf.uta.fi/PTPRCbase/"; WEB RESOURCE: Name=Wikipedia; Note=CD45 entry; URL="http://en.wikipedia.org/wiki/CD45"; GENE SYNONYMS:PTPRC CD45. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 1304 AA; 147254 MW; A08FC22D6069BAF7 CRC64;
|
biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:9666,
urn:biopax:RelationshipXref:NCBI GENE_5788,
urn:biopax:RelationshipXref:REFSEQ_NP_002829,
urn:biopax:RelationshipXref:REFSEQ_NP_563578,
urn:biopax:UnificationXref:UNIPROT_A8K7W6,
urn:biopax:UnificationXref:UNIPROT_P08575,
urn:biopax:UnificationXref:UNIPROT_Q16614,
urn:biopax:UnificationXref:UNIPROT_Q9H0Y6
|
biopax3:displayName |
PTPRC_HUMAN
|
biopax3:name |
3.1.3.48,
CD45,
L-CA,
Leukocyte common antigen,
PTPRC,
T200
|
biopax3:entityFeature | |
biopax3:organism | |
biopax3:sequence |
MYLWLKLLAFGFAFLDTEVFVTGQSPTPSPTGLTTAKMPSVPLSSDPLPTHTTAFSPASTFERENDFSETTTSLSPDNTSTQVSPDSLDNASAFNTTGVSSVQTPHLPTHADSQTPSAGTDTQTFSGSAANAKLNPTPGSNAISDVPGERSTASTFPTDPVSPLTTTLSLAHHSSAALPARTSNTTITANTSDAYLNASETTTLSPSGSAVISTTTIATTPSKPTCDEKYANITVDYLYNKETKLFTAKLNVNENVECGNNTCTNNEVHNLTECKNASVSISHNSCTAPDKTLILDVPPGVEKFQLHDCTQVEKADTTICLKWKNIETFTCDTQNITYRFQCGNMIFDNKEIKLENLEPEHEYKCDSEILYNNHKFTNASKIIKTDFGSPGEPQIIFCRSEAAHQGVITWNPPQRSFHNFTLCYIKETEKDCLNLDKNLIKYDLQNLKPYTKYVLSLHAYIIAKVQRNGSAAMCHFTTKSAPPSQVWNMTVSMTSDNSMHVKCRPPRDRNGPHERYHLEVEAGNTLVRNESHKNCDFRVKDLQYSTDYTFKAYFHNGDYPGEPFILHHSTSYNSKALIAFLAFLIIVTSIALLVVLYKIYDLHKKRSCNLDEQQELVERDDEKQLMNVEPIHADILLETYKRKIADEGRLFLAEFQSIPRVFSKFPIKEARKPFNQNKNRYVDILPYDYNRVELSEINGDAGSNYINASYIDGFKEPRKYIAAQGPRDETVDDFWRMIWEQKATVIVMVTRCEEGNRNKCAEYWPSMEEGTRAFGDVVVKINQHKRCPDYIIQKLNIVNKKEKATGREVTHIQFTSWPDHGVPEDPHLLLKLRRRVNAFSNFFSGPIVVHCSAGVGRTGTYIGIDAMLEGLEAENKVDVYGYVVKLRRQRCLMVQVEAQYILIHQALVEYNQFGETEVNLSELHPYLHNMKKRDPPSEPSPLEAEFQRLPSYRSWRTQHIGNQEENKSKNRNSNVIPYDYNRVPLKHELEMSKESEHDSDESSDDDSDSEEPSKYINASFIMSYWKPEVMIAAQGPLKETIGDFWQMIFQRKVKVIVMLTELKHGDQEICAQYWGEGKQTYGDIEVDLKDTDKSSTYTLRVFELRHSKRKDSRTVYQYQYTNWSVEQLPAEPKELISMIQVVKQKLPQKNSSEGNKHHKSTPLLIHCRDGSQQTGIFCALLNLLESAETEEVVDIFQVVKALRKARPGMVSTFEQYQFLYDVIASTYPAQNGQVKKNNHQEDKIEFDNEVDKVKQDANCVNPLGAPEKLPEAKEQAEGSEPTSGTEGPEHSVNGPASPALNQGS
|
biopax3:standardName |
Receptor-type tyrosine-protein phosphatase C
|