CD70
entrez
970
canonical
uniprot
P32970
canonical
ensembl
ENSG00000125726
resolver
ensp
ENSP00000245903
resolver
ensp
ENSP00000395294
resolver
genesymbol
CD70
resolver
genesymbol
TNLG8A
resolver
genesymbol_syn
CD27L
resolver
genesymbol_syn
CD27LG
resolver
genesymbol_syn
TNFSF7
resolver
hgnc
HGNC:11937
resolver
uniprot
A0A0U5JA32
resolver
uniprot
B4DPR8
resolver
uniprot
Q53XX4
resolver
uniprot
Q96J57
resolver
uniprot_entry
A0A0U5JA32_HUMAN
resolver
uniprot_entry
CD70_HUMAN
resolver
uniprot_sec
B4DPR8
resolver
uniprot_sec
Q53XX4
resolver
uniprot_sec
Q96J57
resolver
amino_acid_sequence
MPEEGSGCSVRRRPYGCVLRAALVPLVAGLVICLVVCIQRFAQAQQQLPLESLGWDVAELQLNHTGPQQDPRLYWQGGPALGRSFLHGPELDKGQLRIHRDGIYMVHIQVTLAICSSTTASRHHPTTLAVGICSPASRSISLLRLSFHQGCTIASQRLTPLARGDTLCTNLTGTLLPSRNTDETFFGVQWVRP
uniprot
proteins
disease_involvement
DISEASE: Lymphoproliferative syndrome 3 (LPFS3) [MIM:618261]: An autosomal recessive, early-onset immunologic disorder characterized by increased susceptibility to Epstein-Barr virus infection in B cells, abnormal B-cell proliferation and increased susceptibility to B-cell malignancies, including Hodgkin lymphoma. Patients usually have lymphadenopathy and hypogammaglobulinemia, and may suffer from recurrent infections. {ECO:0000269|PubMed:28011863, ECO:0000269|PubMed:28011864}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Expressed at the plasma membrane of B cells, it is the ligand of the CD27 receptor which is specifically expressed at the surface of T cells (PubMed:28011863, PubMed:28011864, PubMed:8387892). The CD70-CD27 signaling pathway mediates antigen-specific T cell activation and expansion which in turn provides immune surveillance of B cells (PubMed:28011863, PubMed:28011864). {ECO:0000269|PubMed:28011863, ECO:0000269|PubMed:28011864, ECO:0000269|PubMed:8387892}.
uniprot
proteins
mass_dalton
21118
uniprot
proteins
mutagenesis
MUTAGEN 61; /note="Q->A: Decreased CD27 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 63; /note="N->Q: Loss of protein expression."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 65; /note="T->A: Loss of protein expression."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 80; /note="A->R,F: Decreased CD27 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 83; /note="R->A,E,K: Loss of CD27 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 115; /note="C->A: No effect on protein expression but loss of CD27 binding; when associated with A-151."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 133; /note="C->A: Loss of protein expression; when associated with A-168."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 135; /note="P->A: Decreased protein expression."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 137; /note="S->A,K: No effect on CD27 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 137; /note="S->E: Decreased CD27 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 144; /note="R->A,E: Decreased CD27 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 146; /note="S->A: No effect on CD27 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 146; /note="S->D: Loss of CD27 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 148; /note="H->A,E,D: Decreased CD27 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 151; /note="C->A: No effect on protein expression but loss of CD27 binding; when associated with A-115."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 165; /note="D->A: Decreased protein expression."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 168; /note="C->A: Loss of protein expression; when associated with A-133."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 170; /note="N->Q: Decreased expression and decreased binding to CD27."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 178; /note="S->A: Decreased CD27 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 180; /note="N->R,W: Decreased CD27 binding."; /evidence="ECO:0000269|PubMed:34419446
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:34419446}.
uniprot
proteins
protein_family
Tumor necrosis factor family
uniprot
proteins
pubmed
11920585
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
28011863
uniprot
proteins
pubmed
28011864
uniprot
proteins
pubmed
34419446
uniprot
proteins
pubmed
8120384
uniprot
proteins
pubmed
8387892
uniprot
proteins
sequence_length
193
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11920585, ECO:0000269|PubMed:28011863, ECO:0000269|PubMed:28011864, ECO:0000269|PubMed:8120384, ECO:0000269|PubMed:8387892}; Single-pass type II membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 18..38; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins