CD207
entrez
50489
canonical
uniprot
Q9UJ71
canonical
ensembl
ENSG00000116031
resolver
ensp
ENSP00000386378
resolver
enst
ENST00000410009
resolver
genesymbol
CD207
resolver
genesymbol_syn
CLEC4K
resolver
hgnc
HGNC:17935
resolver
uniprot_entry
CLC4K_HUMAN
resolver
amino_acid_sequence
MTVEKEAPDAHFTVDKQNISLWPREPPPKSGPSLVPGKTPTVRAALICLTLVLVASVLLQAVLYPRFMGTISDVKTNVQLLKGRVDNISTLDSEIKKNSDGMEAAGVQIQMVNESLGYVRSQFLKLKTSVEKANAQIQILTRSWEEVSTLNAQIPELKSDLEKASALNTKIRALQGSLENMSKLLKRQNDILQVVSQGWKYFKGNFYYFSLIPKTWYSAEQFCVSRNSHLTSVTSESEQEFLYKTAGGLIYWIGLTKAGMEGDWSWVDDTPFNKVQSVRFWIPGEPNNAGNNEHCGNIKAPSLQAWNDAPCDKTFLFICKRPYVPSEP
uniprot
proteins
disease_involvement
DISEASE: Birbeck granule deficiency (BIRGD) [MIM:613393]: A condition characterized by the absence of Birbeck granules in epidermal Langerhans cells. Despite the lack of Birbeck granules, Langerhans cells are present in normal numbers and have normal morphologic characteristics and antigen-presenting capacity. {ECO:0000269|PubMed:15816828, ECO:0000269|PubMed:16567809}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Calcium-dependent lectin displaying mannose-binding specificity. Induces the formation of Birbeck granules (BGs); is a potent regulator of membrane superimposition and zippering. Binds to sulfated as well as mannosylated glycans, keratan sulfate (KS) and beta-glucans. Facilitates uptake of antigens and is involved in the routing and/or processing of antigen for presentation to T cells. Major receptor on primary Langerhans cells for Candida species, Saccharomyces species, and Malassezia furfur. Protects against human immunodeficiency virus-1 (HIV-1) infection. Binds to high-mannose structures present on the envelope glycoprotein which is followed by subsequent targeting of the virus to the Birbeck granules leading to its rapid degradation. {ECO:0000269|PubMed:10661407, ECO:0000269|PubMed:17334373, ECO:0000269|PubMed:20026605, ECO:0000269|PubMed:20097424}.
uniprot
proteins
mass_dalton
36725
uniprot
proteins
mutagenesis
MUTAGEN 285; /note="E->A: Loss of binding to 6'-sulfo-LacNAc and invertase."; /evidence="ECO:0000269|PubMed:20026605"; MUTAGEN 287; /note="N->A: Loss of binding to 6'-sulfo-LacNAc and invertase."; /evidence="ECO:0000269|PubMed:20026605"; MUTAGEN 299; /note="K->A: Loss of binding to 6'-sulfo-LacNAc."; /evidence="ECO:0000269|PubMed:20026605"; MUTAGEN 313; /note="K->A: Loss of binding to 6'-sulfo-LacNAc and 6-sulfo-GlcNAc."; /evidence="ECO:0000269|PubMed:20026605
uniprot
proteins
pubmed
10661407
uniprot
proteins
pubmed
12626394
uniprot
proteins
pubmed
14610287
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15816828
uniprot
proteins
pubmed
16567809
uniprot
proteins
pubmed
17334373
uniprot
proteins
pubmed
19175323
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20026605
uniprot
proteins
pubmed
20097424
uniprot
proteins
sequence_length
328
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10661407}; Single-pass type II membrane protein {ECO:0000269|PubMed:10661407}. Note=Found in Birbeck granules (BGs), which are organelles consisting of superimposed and zippered membranes.
uniprot
proteins
transmembrane_region
TRANSMEM 44..64; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins