Human Gene CD207 (ENST00000410009.5) from GENCODE V44
Description: Homo sapiens CD207 molecule (CD207), mRNA. (from RefSeq NM_015717) RefSeq Summary (NM_015717): The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000410009.5 Gencode Gene: ENSG00000116031.9 Transcript (Including UTRs) Position: hg38 chr2:70,830,211-70,835,816 Size: 5,606 Total Exon Count: 6 Strand: - Coding Region Position: hg38 chr2:70,831,050-70,835,776 Size: 4,727 Coding Exon Count: 6
ID:CLC4K_HUMAN DESCRIPTION: RecName: Full=C-type lectin domain family 4 member K; AltName: Full=Langerin; AltName: CD_antigen=CD207; 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. SUBUNIT: Homotrimer. SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein. Note=Found in Birbeck granules (BGs), which are organelles consisting of superimposed and zippered membranes. TISSUE SPECIFICITY: Exclusively expressed by Langerhans cells. Expressed in astrocytoma and malignant ependymoma, but not in normal brain tissues. DOMAIN: The C-type lectin domain mediates dual recognition of both sulfated and mannosylated glycans. DISEASE: Defects in CD207 are the cause of Birbeck granule deficiency (BIRGD) [MIM:613393]. It is 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. SIMILARITY: Contains 1 C-type lectin domain. WEB RESOURCE: Name=Functional Glycomics Gateway - Glycan Binding; Note=Langerin; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_00126";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UJ71
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0006898 receptor-mediated endocytosis GO:0051607 defense response to virus
BC022278 - Homo sapiens CD207 molecule, langerin, mRNA (cDNA clone MGC:22374 IMAGE:4692155), complete cds. AJ242859 - Homo sapiens mRNA for langerin protein. JD287396 - Sequence 268420 from Patent EP1572962. JD195299 - Sequence 176323 from Patent EP1572962. JD187970 - Sequence 168994 from Patent EP1572962. JD151454 - Sequence 132478 from Patent EP1572962. JD099555 - Sequence 80579 from Patent EP1572962. JD394799 - Sequence 375823 from Patent EP1572962. JD161364 - Sequence 142388 from Patent EP1572962. JD117461 - Sequence 98485 from Patent EP1572962. JD451781 - Sequence 432805 from Patent EP1572962. JD502738 - Sequence 483762 from Patent EP1572962. JD528693 - Sequence 509717 from Patent EP1572962. JD168222 - Sequence 149246 from Patent EP1572962. JD068498 - Sequence 49522 from Patent EP1572962. JD337271 - Sequence 318295 from Patent EP1572962. JD251671 - Sequence 232695 from Patent EP1572962. JD093836 - Sequence 74860 from Patent EP1572962. JD052217 - Sequence 33241 from Patent EP1572962. JD367364 - Sequence 348388 from Patent EP1572962. JD103562 - Sequence 84586 from Patent EP1572962. JD393495 - Sequence 374519 from Patent EP1572962. JD424889 - Sequence 405913 from Patent EP1572962. JD188303 - Sequence 169327 from Patent EP1572962. JD261935 - Sequence 242959 from Patent EP1572962. AK314927 - Homo sapiens cDNA, FLJ95836, highly similar to Homo sapiens CD207 antigen, langerin (CD207), mRNA. KJ893750 - Synthetic construct Homo sapiens clone ccsbBroadEn_03144 CD207 gene, encodes complete protein. KR711212 - Synthetic construct Homo sapiens clone CCSBHm_00021246 CD207 (CD207) mRNA, encodes complete protein. KR711213 - Synthetic construct Homo sapiens clone CCSBHm_00021247 CD207 (CD207) mRNA, encodes complete protein. KR711214 - Synthetic construct Homo sapiens clone CCSBHm_00021248 CD207 (CD207) mRNA, encodes complete protein. KR712202 - Synthetic construct Homo sapiens clone CCSBHm_00900152 CD207 (CD207) mRNA, encodes complete protein. KR712204 - Synthetic construct Homo sapiens clone CCSBHm_00900155 CD207 (CD207) mRNA, encodes complete protein. KR712209 - Synthetic construct Homo sapiens clone CCSBHm_00900162 CD207 (CD207) mRNA, encodes complete protein. DQ891964 - Synthetic construct clone IMAGE:100004594; FLH181877.01X; RZPDo839A03138D CD207 molecule, langerin (CD207) gene, encodes complete protein. DQ895154 - Synthetic construct Homo sapiens clone IMAGE:100009614; FLH181873.01L; RZPDo839A03137D CD207 molecule, langerin (CD207) gene, encodes complete protein. CU692528 - Synthetic construct Homo sapiens gateway clone IMAGE:100022197 5' read CD207 mRNA. JD495830 - Sequence 476854 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9UJ71 (Reactome details) participates in the following event(s):
R-HSA-1236939 Interaction of exogenous soluble antigen with its corresponding receptor R-HSA-1236940 Exogenous soluble antigen targeted to more stable early endosome R-HSA-1236941 Internalization of receptor bound antigen into clathrin coted vesicles R-HSA-1236955 Movement of clathrin coated vesicles into early endosome R-HSA-1236978 Cross-presentation of soluble exogenous antigens (endosomes) R-HSA-1236975 Antigen processing-Cross presentation R-HSA-983169 Class I MHC mediated antigen processing & presentation R-HSA-1280218 Adaptive Immune System R-HSA-168256 Immune System