InnateDB Protein
|
IDBP-295615.5
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
CD207
|
Protein Name
|
CD207 molecule, langerin
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000386378
|
InnateDB Gene
|
IDBG-55659 (CD207)
|
Protein Structure
|
|
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:0000269PubMed:10661407, ECO:0000269PubMed:17334373, ECO:0000269PubMed:20026605, ECO:0000269PubMed:20097424}.
|
Subcellular Localization |
Membrane {ECO:0000269PubMed:10661407}; Single-pass type II membrane protein {ECO:0000269PubMed:10661407}. Note=Found in Birbeck granules (BGs), which are organelles consisting of superimposed and zippered membranes.
|
Disease Associations |
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:0000269PubMed:15816828}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Exclusively expressed by Langerhans cells. Expressed in astrocytoma and malignant ependymoma, but not in normal brain tissues. {ECO:0000269PubMed:10661407, ECO:0000269PubMed:20026605}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
|
Protein-Protein |
1
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
GO:0002474
|
antigen processing and presentation of peptide antigen via MHC class I
|
GO:0002479
|
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
|
GO:0042590
|
antigen processing and presentation of exogenous peptide antigen via MHC class I
|
GO:0051607
|
defense response to virus
|
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001304
C-type lectin
IPR016187
C-type lectin fold
|
PFAM |
PF00059
|
PRINTS |
|
PIRSF |
|
SMART |
SM00034
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9UJ71
|
PhosphoSite |
PhosphoSite-Q9UJ71
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
50489
|
UniGene |
Hs.199731
|
RefSeq |
NP_056532
|
HUGO |
HGNC:17935
|
OMIM |
604862
|
CCDS |
CCDS74520
|
HPRD |
07278
|
IMGT |
|
EMBL |
AC007395
AJ242859
BC022278
|
GenPept |
AAH22278
CAB62403
|
|
|