PTPRC_HUMAN
Source:
BSc_CH
Marked as 'Integral membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
PTPRC
, CD45
Protein names and data:
PTPRC_HUMAN
, Receptor-type tyrosine-protein phosphatase C; 3.1.3.48
, Leukocyte common antigen; L-CA; T200; CD45; Flags: Precursor
Lenght: 1304 a.a.
Mass: 147254 Da
fasta formatted sequence
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.
Disease:
( OMIM:
126200
151460
608971
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry. Multiple sclerosis (MS) [MIM:126200]: A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Cellular location:
Membrane; Single-pass type I membrane protein. Membrane raft. Note=Colocalized with DPP4 in membrane rafts.
Genetic variants
191 - 191
T -> A (in dbSNP:rs4915154). VAR_036860
4915154
228 - 228
E -> A (in a breast cancer sample; somatic mutation). VAR_035653
294 - 294
I -> L (in dbSNP:rs2230606). VAR_051763
2230606
362 - 363
Missing (in T(-)B(+)NK(+) SCID; associated with lack of surface expression). VAR_021205
421 - 421
T -> I (in dbSNP:rs6696162). VAR_051764
6696162
568 - 568
H -> Q (in dbSNP:rs12136658). VAR_051765
12136658
863 - 863
G -> R (in a breast cancer sample; somatic mutation). VAR_035654
1283 - 1283
S -> R (in dbSNP:rs2298872). VAR_020303
2298872
Database cross-references
UniProt:
P08575
Ensembl:
ENST00000367376
Ensembl:
ENST00000573477
Ensembl:
ENST00000573679
Ensembl:
ENST00000594404
MIM:
126200
MIM:
151460
MIM:
608971
neXtProt:
NX_P08575
Antibodypedia:
P08575
(may not find the protein thus also not any antibody)
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