UniProtKB - Q9UJ71 (CLC4K_HUMAN)
Protein
C-type lectin domain family 4 member K
Gene
CD207
Organism
Homo sapiens (Human)
Status
Functioni
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.4 Publications
GO - Molecular functioni
- carbohydrate binding Source: UniProtKB
- mannose binding Source: ProtInc
GO - Biological processi
- antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Source: Reactome
- defense response to virus Source: UniProtKB
- receptor-mediated endocytosis Source: Reactome
Keywordsi
Ligand | Lectin |
Enzyme and pathway databases
PathwayCommonsi | Q9UJ71 |
Reactomei | R-HSA-1236978, Cross-presentation of soluble exogenous antigens (endosomes) |
Protein family/group databases
UniLectini | Q9UJ71 |
Names & Taxonomyi
Protein namesi | Recommended name: C-type lectin domain family 4 member KAlternative name(s): Langerin CD_antigen: CD207 |
Gene namesi | Name:CD207 Synonyms:CLEC4K |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000116031.8 |
HGNCi | HGNC:17935, CD207 |
MIMi | 604862, gene |
neXtProti | NX_Q9UJ71 |
Subcellular locationi
Other locations
- Membrane 1 Publication; Single-pass type II membrane protein 1 Publication
Note: Found in Birbeck granules (BGs), which are organelles consisting of superimposed and zippered membranes.
Endosome
- early endosome membrane Source: Reactome
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- clathrin-coated endocytic vesicle membrane Source: Reactome
- endocytic vesicle Source: ProtInc
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 43 | CytoplasmicSequence analysisAdd BLAST | 43 | |
Transmembranei | 44 – 64 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 21 | |
Topological domaini | 65 – 328 | ExtracellularSequence analysisAdd BLAST | 264 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Birbeck granule deficiency (BIRGD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063828 | 264 | W → R in BIRGD; abolishes mannose-binding ability. 2 PublicationsCorresponds to variant dbSNP:rs200837270EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 285 | E → A: Loss of binding to 6'-sulfo-LacNAc and invertase. 1 Publication | 1 | |
Mutagenesisi | 287 | N → A: Loss of binding to 6'-sulfo-LacNAc and invertase. 1 Publication | 1 | |
Mutagenesisi | 299 | K → A: Loss of binding to 6'-sulfo-LacNAc. 1 Publication | 1 | |
Mutagenesisi | 313 | K → A: Loss of binding to 6'-sulfo-LacNAc and 6-sulfo-GlcNAc. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 50489 |
MalaCardsi | CD207 |
MIMi | 613393, phenotype |
OpenTargetsi | ENSG00000116031 |
PharmGKBi | PA134986203 |
Miscellaneous databases
Pharosi | Q9UJ71, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2176853 |
Polymorphism and mutation databases
BioMutai | CD207 |
DMDMi | 229784129 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000223693 | 1 – 328 | C-type lectin domain family 4 member KAdd BLAST | 328 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 87 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 113 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 180 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 223 ↔ 319 | PROSITE-ProRule annotation1 Publication | ||
Disulfide bondi | 295 ↔ 311 | PROSITE-ProRule annotation1 Publication |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | Q9UJ71 |
MassIVEi | Q9UJ71 |
PaxDbi | Q9UJ71 |
PeptideAtlasi | Q9UJ71 |
PRIDEi | Q9UJ71 |
ProteomicsDBi | 84594 |
PTM databases
GlyGeni | Q9UJ71, 3 sites |
iPTMneti | Q9UJ71 |
PhosphoSitePlusi | Q9UJ71 |
Expressioni
Tissue specificityi
Exclusively expressed by Langerhans cells. Expressed in astrocytoma and malignant ependymoma, but not in normal brain tissues.2 Publications
Gene expression databases
Bgeei | ENSG00000116031, Expressed in zone of skin and 95 other tissues |
Genevisiblei | Q9UJ71, HS |
Organism-specific databases
HPAi | ENSG00000116031, Tissue enhanced (lymphoid tissue, skin) |
Interactioni
Subunit structurei
Homotrimer.
1 PublicationBinary interactionsi
Hide detailsQ9UJ71
Protein-protein interaction databases
BioGRIDi | 119076, 13 interactors |
IntActi | Q9UJ71, 12 interactors |
STRINGi | 9606.ENSP00000386378 |
Chemistry databases
BindingDBi | Q9UJ71 |
Miscellaneous databases
RNActi | Q9UJ71, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9UJ71 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9UJ71 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 202 – 320 | C-type lectinPROSITE-ProRule annotationAdd BLAST | 119 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 145 – 190 | Sequence analysisAdd BLAST | 46 |
Domaini
The C-type lectin domain mediates dual recognition of both sulfated and mannosylated glycans.1 Publication
Keywords - Domaini
Coiled coil, Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4297, Eukaryota |
GeneTreei | ENSGT00940000161863 |
HOGENOMi | CLU_081746_0_0_1 |
InParanoidi | Q9UJ71 |
OMAi | QFCVSRN |
OrthoDBi | 988771at2759 |
PhylomeDBi | Q9UJ71 |
TreeFami | TF333341 |
Family and domain databases
CDDi | cd03590, CLECT_DC-SIGN_like, 1 hit |
Gene3Di | 3.10.100.10, 1 hit |
InterProi | View protein in InterPro IPR001304, C-type_lectin-like IPR016186, C-type_lectin-like/link_sf IPR018378, C-type_lectin_CS IPR033989, CD209-like_CTLD IPR016187, CTDL_fold |
Pfami | View protein in Pfam PF00059, Lectin_C, 1 hit |
SMARTi | View protein in SMART SM00034, CLECT, 1 hit |
SUPFAMi | SSF56436, SSF56436, 1 hit |
PROSITEi | View protein in PROSITE PS00615, C_TYPE_LECTIN_1, 1 hit PS50041, C_TYPE_LECTIN_2, 1 hit |
i Sequence
Sequence statusi: Complete.
Q9UJ71-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MTVEKEAPDA HFTVDKQNIS LWPREPPPKS GPSLVPGKTP TVRAALICLT
60 70 80 90 100
LVLVASVLLQ AVLYPRFMGT ISDVKTNVQL LKGRVDNIST LDSEIKKNSD
110 120 130 140 150
GMEAAGVQIQ MVNESLGYVR SQFLKLKTSV EKANAQIQIL TRSWEEVSTL
160 170 180 190 200
NAQIPELKSD LEKASALNTK IRALQGSLEN MSKLLKRQND ILQVVSQGWK
210 220 230 240 250
YFKGNFYYFS LIPKTWYSAE QFCVSRNSHL TSVTSESEQE FLYKTAGGLI
260 270 280 290 300
YWIGLTKAGM EGDWSWVDDT PFNKVQSVRF WIPGEPNNAG NNEHCGNIKA
310 320
PSLQAWNDAP CDKTFLFICK RPYVPSEP
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054781 | 55 | A → V. Corresponds to variant dbSNP:rs10489990Ensembl. | 1 | |
Natural variantiVAR_056151 | 136 | Q → E. Corresponds to variant dbSNP:rs17718987Ensembl. | 1 | |
Natural variantiVAR_054782 | 213 | P → S. Corresponds to variant dbSNP:rs17006436Ensembl. | 1 | |
Natural variantiVAR_063828 | 264 | W → R in BIRGD; abolishes mannose-binding ability. 2 PublicationsCorresponds to variant dbSNP:rs200837270EnsemblClinVar. | 1 | |
Natural variantiVAR_054783 | 278 | V → A No effect on mannose-binding ability. 2 PublicationsCorresponds to variant dbSNP:rs741326Ensembl. | 1 | |
Natural variantiVAR_054784 | 288 | N → D Significant reduction in mannose-binding ability. 1 PublicationCorresponds to variant dbSNP:rs13383830Ensembl. | 1 | |
Natural variantiVAR_059448 | 300 | A → P Significant reduction in mannose-binding ability; significant decrease in thermal stability; increased sensitivity of sugar binding to pH change. 1 PublicationCorresponds to variant dbSNP:rs2080391Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ242859 mRNA Translation: CAB62403.1 AC007395 Genomic DNA No translation available. BC022278 mRNA Translation: AAH22278.1 |
CCDSi | CCDS74520.1 |
RefSeqi | NP_056532.4, NM_015717.4 XP_011531176.1, XM_011532874.1 |
Genome annotation databases
Ensembli | ENST00000410009; ENSP00000386378; ENSG00000116031 |
GeneIDi | 50489 |
KEGGi | hsa:50489 |
UCSCi | uc002shg.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Functional Glycomics Gateway - Glycan Binding Langerin |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ242859 mRNA Translation: CAB62403.1 AC007395 Genomic DNA No translation available. BC022278 mRNA Translation: AAH22278.1 |
CCDSi | CCDS74520.1 |
RefSeqi | NP_056532.4, NM_015717.4 XP_011531176.1, XM_011532874.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3C22 | X-ray | 1.50 | A/B/C/D | 188-328 | [»] | |
3KQG | X-ray | 2.30 | A/B/C/D/E/F | 147-328 | [»] | |
3P5D | X-ray | 1.80 | A/B/C/D | 193-328 | [»] | |
3P5E | X-ray | 1.70 | A/B/C/D | 193-328 | [»] | |
3P5F | X-ray | 1.75 | A/B/C/D | 193-328 | [»] | |
3P5G | X-ray | 1.60 | A/B/C/D | 193-328 | [»] | |
3P5H | X-ray | 1.61 | A/B/C/D | 193-328 | [»] | |
3P5I | X-ray | 1.80 | A/B/C/D | 193-328 | [»] | |
3P7F | X-ray | 2.50 | A/B/C/D | 193-328 | [»] | |
3P7G | X-ray | 1.60 | A/B/C/D | 193-328 | [»] | |
3P7H | X-ray | 2.30 | A/B/C/D | 193-328 | [»] | |
4AK8 | X-ray | 1.40 | A/B/C/D | 188-328 | [»] | |
4N32 | X-ray | 1.75 | A/B/C/D | 193-328 | [»] | |
4N33 | X-ray | 1.85 | A/B/C/D | 193-328 | [»] | |
4N34 | X-ray | 1.75 | A/B/C/D | 193-328 | [»] | |
4N35 | X-ray | 1.85 | A/B/C/D | 193-328 | [»] | |
4N36 | X-ray | 1.85 | A/B/C/D | 193-328 | [»] | |
4N37 | X-ray | 2.00 | A/B/C/D | 193-328 | [»] | |
4N38 | X-ray | 2.00 | A/B/C/D | 193-328 | [»] | |
5G6U | X-ray | 1.84 | A/B/C/D | 68-328 | [»] | |
SMRi | Q9UJ71 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119076, 13 interactors |
IntActi | Q9UJ71, 12 interactors |
STRINGi | 9606.ENSP00000386378 |
Chemistry databases
BindingDBi | Q9UJ71 |
ChEMBLi | CHEMBL2176853 |
Protein family/group databases
UniLectini | Q9UJ71 |
PTM databases
GlyGeni | Q9UJ71, 3 sites |
iPTMneti | Q9UJ71 |
PhosphoSitePlusi | Q9UJ71 |
Polymorphism and mutation databases
BioMutai | CD207 |
DMDMi | 229784129 |
Proteomic databases
jPOSTi | Q9UJ71 |
MassIVEi | Q9UJ71 |
PaxDbi | Q9UJ71 |
PeptideAtlasi | Q9UJ71 |
PRIDEi | Q9UJ71 |
ProteomicsDBi | 84594 |
Protocols and materials databases
Antibodypediai | 2366, 481 antibodies |
DNASUi | 50489 |
Genome annotation databases
Ensembli | ENST00000410009; ENSP00000386378; ENSG00000116031 |
GeneIDi | 50489 |
KEGGi | hsa:50489 |
UCSCi | uc002shg.4, human |
Organism-specific databases
CTDi | 50489 |
DisGeNETi | 50489 |
EuPathDBi | HostDB:ENSG00000116031.8 |
GeneCardsi | CD207 |
HGNCi | HGNC:17935, CD207 |
HPAi | ENSG00000116031, Tissue enhanced (lymphoid tissue, skin) |
MalaCardsi | CD207 |
MIMi | 604862, gene 613393, phenotype |
neXtProti | NX_Q9UJ71 |
OpenTargetsi | ENSG00000116031 |
PharmGKBi | PA134986203 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4297, Eukaryota |
GeneTreei | ENSGT00940000161863 |
HOGENOMi | CLU_081746_0_0_1 |
InParanoidi | Q9UJ71 |
OMAi | QFCVSRN |
OrthoDBi | 988771at2759 |
PhylomeDBi | Q9UJ71 |
TreeFami | TF333341 |
Enzyme and pathway databases
PathwayCommonsi | Q9UJ71 |
Reactomei | R-HSA-1236978, Cross-presentation of soluble exogenous antigens (endosomes) |
Miscellaneous databases
BioGRID-ORCSi | 50489, 0 hits in 115 CRISPR screens |
EvolutionaryTracei | Q9UJ71 |
GeneWikii | Langerin |
GenomeRNAii | 50489 |
Pharosi | Q9UJ71, Tbio |
PROi | PR:Q9UJ71 |
RNActi | Q9UJ71, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000116031, Expressed in zone of skin and 95 other tissues |
Genevisiblei | Q9UJ71, HS |
Family and domain databases
CDDi | cd03590, CLECT_DC-SIGN_like, 1 hit |
Gene3Di | 3.10.100.10, 1 hit |
InterProi | View protein in InterPro IPR001304, C-type_lectin-like IPR016186, C-type_lectin-like/link_sf IPR018378, C-type_lectin_CS IPR033989, CD209-like_CTLD IPR016187, CTDL_fold |
Pfami | View protein in Pfam PF00059, Lectin_C, 1 hit |
SMARTi | View protein in SMART SM00034, CLECT, 1 hit |
SUPFAMi | SSF56436, SSF56436, 1 hit |
PROSITEi | View protein in PROSITE PS00615, C_TYPE_LECTIN_1, 1 hit PS50041, C_TYPE_LECTIN_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CLC4K_HUMAN | |
Accessioni | Q9UJ71Primary (citable) accession number: Q9UJ71 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 21, 2006 |
Last sequence update: | March 24, 2009 | |
Last modified: | December 2, 2020 | |
This is version 163 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human cell differentiation molecules
CD nomenclature of surface proteins of human leucocytes and list of entries