PTCRA
entrez
171558
canonical
uniprot
Q6ISU1
canonical
ensembl
ENSG00000171611
resolver
ensp
ENSP00000304447
resolver
ensp
ENSP00000392288
resolver
ensp
ENSP00000409550
resolver
ensp
ENSP00000477815
resolver
enst
ENST00000616441
resolver
genesymbol
PTCRA
resolver
hgnc
HGNC:21290
resolver
uniprot
A0A087WTE9
resolver
uniprot
Q5TFZ7
resolver
uniprot
Q6ZNR1
resolver
uniprot_entry
A0A087WTE9_HUMAN
resolver
uniprot_entry
PTCRA_HUMAN
resolver
uniprot_entry
Q6ZNR1_HUMAN
resolver
uniprot_sec
Q5TFZ7
resolver
amino_acid_sequence
MAGTWLLLLLALGCPALPTGVGGTPFPSLAPPIMLLVDGKQQMVVVCLVLDVAPPGLDSPIWFSAGNGSALDAFTYGPSPATDGTWTNLAHLSLPSEELASWEPLVCHTGPGAEGHSRSTQPMHLSGEASTARTCPQEPLRGTPGGALWLGVLRLLLFKLLLFDLLLTCSCLCDPAGPLPSPATTTRLRALGSHRLHPATETGGREATSSPRPQPRDRRWGDTPPGRKPGSPVWGEGSYLSSYPTCPAQAWCSRSALRAPSSSLGAFFAGDLPPPLQAGAA
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 126 (IMD126) [MIM:620931]: An autosomal recessive immunologic disorder characterized by T-cell abnormalities with impaired development of alpha/beta T cells and increased susceptibility to recurrent infections. Disease severity is highly variable, ranging from life-threatening infections in infancy to severe infections, lymphoproliferation or autoimmunity beginning between the ages of 13 to 25 years. Some affected individuals may have very mild disease or be asymptomatic. {ECO:0000269|PubMed:38422122}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the pre-T-cell receptor complex (composed of PTCRA, TCRB and the CD3 complex) that has a crucial role in early T-cell development, particularly alpha-beta T cell differentiation. {ECO:0000269|PubMed:38422122}.
uniprot
proteins
mass_dalton
29266
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20944746
uniprot
proteins
pubmed
22795130
uniprot
proteins
pubmed
38422122
uniprot
proteins
pubmed
8618853
uniprot
proteins
pubmed
8760805
uniprot
proteins
pubmed
9842925
uniprot
proteins
sequence_length
281
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:38422122}.
uniprot
proteins
transmembrane_region
TRANSMEM 147..167; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins