CD27
entrez
939
canonical
uniprot
P26842
canonical
ensembl
ENSG00000139193
resolver
ensp
ENSP00000266557
resolver
ensp
ENSP00000551905
resolver
ensp
ENSP00000551907
resolver
ensp
ENSP00000791295
resolver
enst
ENST00000266557
resolver
genesymbol
CD27
resolver
genesymbol_syn
TNFRSF7
resolver
hgnc
HGNC:11922
resolver
uniprot
B2RDZ0
resolver
uniprot_entry
CD27_HUMAN
resolver
uniprot_sec
B2RDZ0
resolver
amino_acid_sequence
MARPHPWWLCVLGTLVGLSATPAPKSCPERHYWAQGKLCCQMCEPGTFLVKDCDQHRKAAQCDPCIPGVSFSPDHHTRPHCESCRHCNSGLLVRNCTITANAECACRNGWQCRDKECTECDPLPNPSLTARSSQALSPHPQPTHLPYVSEMLEARTAGHMQTLADFRQLPARTLSTHWPPQRSLCSSDFIRILVIFSGMFLVFTLAGALFLHQRRKYRSNKGESPVEPAEPCHYSCPREEEGSTIPIQEDYRKPEPACSP
uniprot
proteins
disease_involvement
DISEASE: Lymphoproliferative syndrome 2 (LPFS2) [MIM:615122]: An autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired T-cell-dependent B-cell responses and T-cell dysfunction. The phenotype is highly variable, ranging from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation. {ECO:0000269|PubMed:22197273, ECO:0000269|PubMed:22801960}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Costimulatory immune-checkpoint receptor expressed at the surface of T-cells, NK-cells and B-cells which binds to and is activated by its ligand CD70/CD27L expressed by B-cells (PubMed:28011863). The CD70-CD27 signaling pathway mediates antigen-specific T-cell activation and expansion which in turn provides immune surveillance of B-cells (PubMed:28011863). Mechanistically, CD70 ligation activates the TRAF2-PTPN6 axis that subsequently inhibits LCK phosphorylation to promote phenotypic and transcriptional adaptations of T-cell memory (PubMed:38354704). In addition, activation by CD70 on early progenitor cells provides a negative feedback signal to leukocyte differentiation during immune activation and thus modulates hematopoiesis (By similarity). Negatively regulates the function of Th2 lymphocytes in the adipose tissue (By similarity). {ECO:0000250|UniProtKB:P41272, ECO:0000269|PubMed:28011863, ECO:0000269|PubMed:38354704}.
uniprot
proteins
mass_dalton
29137
uniprot
proteins
mutagenesis
MUTAGEN 30; /note="R->A: Decreased CD70 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 74; /note="D->A: Decreased CD70 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 82; /note="E->A,R: Loss of CD70 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 83; /note="S->A: Decreased CD70 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 88; /note="N->A: Decreased CD70 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 95; /note="N->A: No effect on CD70 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 113; /note="R->A: Decreased CD70 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 114; /note="D->E,R: Decreased CD70 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 118; /note="T->E,R: Decreased CD70 binding."; /evidence="ECO:0000269|PubMed:34419446"; MUTAGEN 121; /note="D->A: Decreased CD70 binding."; /evidence="ECO:0000269|PubMed:34419446
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000303|PubMed:1655907}.; PTM: N-glycosylated. {ECO:0000269|PubMed:34419446}.; PTM: O-glycosylated with core 1 or possibly core 8 glycans. {ECO:0000269|PubMed:22171320}.
uniprot
proteins
pubmed
1334106
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
1655907
uniprot
proteins
pubmed
22171320
uniprot
proteins
pubmed
22197273
uniprot
proteins
pubmed
22801960
uniprot
proteins
pubmed
28011863
uniprot
proteins
pubmed
34419446
uniprot
proteins
pubmed
38354704
uniprot
proteins
pubmed
9177220
uniprot
proteins
pubmed
9692890
uniprot
proteins
sequence_length
260
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28011863}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 192..212; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins