MS4A1
entrez
931
canonical
uniprot
P11836
canonical
ensembl
ENSG00000156738
resolver
ensp
ENSP00000314620
resolver
ensp
ENSP00000433277
resolver
ensp
ENSP00000501369
resolver
genesymbol
MS4A1
resolver
genesymbol_syn
CD20
resolver
hgnc
HGNC:7315
resolver
uniprot
A6NMS4
resolver
uniprot
B4DT24
resolver
uniprot
P08984
resolver
uniprot
Q13963
resolver
uniprot_entry
CD20_HUMAN
resolver
uniprot_sec
A6NMS4
resolver
uniprot_sec
B4DT24
resolver
uniprot_sec
P08984
resolver
uniprot_sec
Q13963
resolver
amino_acid_sequence
MTTPRNSVNGTFPAEPMKGPIAMQSGPKPLFRRMSSLVGPTQSFFMRESKTLGAVQIMNGLFHIALGGLLMIPAGIYAPICVTVWYPLWGGIMYIISGSLLAATEKNSRKCLVKGKMIMNSLSLFAAISGMILSIMDILNIKISHFLKMESLNFIRAHTPYINIYNCEPANPSEKNSPSTQYCYSIQSLFLGILSVMLIFAFFQELVIAGIVENEWKRTCSRPKSNIVLLSAEEKKEQTIEIKEEVVGLTETSSQPKNEEDIEIIPIQEEEEEETETNFPEPPQDQESSPIENDSSP
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency, common variable, 5 (CVID5) [MIM:613495]: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. {ECO:0000269|PubMed:20038800}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: B-lymphocyte-specific membrane protein that plays a role in the regulation of cellular calcium influx necessary for the development, differentiation, and activation of B-lymphocytes (PubMed:12920111, PubMed:3925015, PubMed:7684739). Functions as a store-operated calcium (SOC) channel component promoting calcium influx after activation by the B-cell receptor/BCR (PubMed:12920111, PubMed:18474602, PubMed:7684739). {ECO:0000269|PubMed:12920111, ECO:0000269|PubMed:18474602, ECO:0000269|PubMed:3925015, ECO:0000269|PubMed:7684739}.
uniprot
proteins
mass_dalton
33077
uniprot
proteins
mutagenesis
MUTAGEN 159; /note="T->K: Abrogates recognition by some antibodies; when associated with D-163 and D-166. Slight decrease of rituximab binding; when associated with D-163 and D-166."; /evidence="ECO:0000269|PubMed:16785532"; MUTAGEN 163; /note="N->D: Decreased binding of some antibodies. No effect on rituximab binding."; /evidence="ECO:0000269|PubMed:16785532"; MUTAGEN 166; /note="N->D: Decreased binding of some antibodies. No effect on rituximab binding."; /evidence="ECO:0000269|PubMed:16785532"; MUTAGEN 170; /note="A->S: Abrogates recognition by therapeutic antibodies, including rituximab; when associated with S-172."; /evidence="ECO:0000269|PubMed:16785532"; MUTAGEN 172; /note="P->S: Marked reduction in rituximab binding. Abrogates recognition by antibodies, including rituximab; when associated with S-170."; /evidence="ECO:0000269|PubMed:16785532
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serines and threonines in resting B-cells. Protein kinase C/PKC can use CD20 as substrate. {ECO:0000269|PubMed:2472394}.
uniprot
proteins
protein_family
MS4A family
uniprot
proteins
pubmed
12920111
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16785532
uniprot
proteins
pubmed
17395584
uniprot
proteins
pubmed
18346788
uniprot
proteins
pubmed
18474602
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
20038800
uniprot
proteins
pubmed
21444918
uniprot
proteins
pubmed
22615937
uniprot
proteins
pubmed
2448768
uniprot
proteins
pubmed
2456210
uniprot
proteins
pubmed
2466899
uniprot
proteins
pubmed
2472394
uniprot
proteins
pubmed
3260267
uniprot
proteins
pubmed
3925015
uniprot
proteins
pubmed
7684739
uniprot
proteins
sequence_length
297
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12920111, ECO:0000269|PubMed:22615937}; Multi-pass membrane protein {ECO:0000269|PubMed:22615937}. Cell membrane {ECO:0000269|PubMed:22615937}; Lipid-anchor {ECO:0000269|PubMed:22615937}. Note=Constitutively associated with membrane rafts. {ECO:0000269|PubMed:12920111}.
uniprot
proteins
transmembrane_region
TRANSMEM 57..78; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 85..105; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 121..141; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 189..209; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins