Human Gene CLEC7A (ENST00000533022.5) from GENCODE V44
Description: Homo sapiens C-type lectin domain containing 7A (CLEC7A), transcript variant 3, mRNA. (from RefSeq NM_197948) RefSeq Summary (NM_197948): This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000533022.5 Gencode Gene: ENSG00000172243.18 Transcript (Including UTRs) Position: hg38 chr12:10,118,458-10,130,082 Size: 11,625 Total Exon Count: 5 Strand: - Coding Region Position: hg38 chr12:10,118,513-10,130,082 Size: 11,570 Coding Exon Count: 5
ID:CLC7A_HUMAN DESCRIPTION: RecName: Full=C-type lectin domain family 7 member A; AltName: Full=Beta-glucan receptor; AltName: Full=C-type lectin superfamily member 12; AltName: Full=Dendritic cell-associated C-type lectin 1; Short=DC-associated C-type lectin 1; Short=Dectin-1; FUNCTION: Lectin that functions as pattern receptor specific for beta-1,3-linked and beta-1,6-linked glucans, such as cell wall constituents from pathogenic bacteria and fungi. Necessary for the TLR2-mediated inflammatory response and for TLR2-mediated activation of NF-kappa-B. Enhances cytokine production in macrophages and dendritic cells. Mediates production of reactive oxygen species in the cell. Mediates phagocytosis of C.albicans conidia. Binds T-cells in a way that does not involve their surface glycans and plays a role in T-cell activation. Stimulates T-cell proliferation (By similarity). SUBUNIT: Homodimer (By similarity). Interacts with SYK; participates in leukocyte activation in presence of fungal pathogens (By similarity). Isoform 5 interacts with RANBP9. SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein. SUBCELLULAR LOCATION: Isoform 5: Cytoplasm. SUBCELLULAR LOCATION: Isoform 6: Cytoplasm (Probable). SUBCELLULAR LOCATION: Isoform 7: Cytoplasm (Probable). TISSUE SPECIFICITY: Highly expressed in peripheral blood leukocytes and dendritic cells. Detected in spleen, bone marrow, lung, muscle, stomach and placenta. INDUCTION: Up-regulated during differentiation from monocytes into dendritic cells. PTM: Phosphorylated on tyrosine residues in response to glucan binding (By similarity). POLYMORPHISM: A stop polymorphism at position 238 may be associated with invasive aspergillosis following hematopoietic stem cell transplantation. The risk is highest when the polymorphism is present in both donors and recipients [MIM:614079]. DISEASE: Defects in CLEC7A may be a cause of familial candidiasis type 4 (CANDF4) [MIM:613108]. It is a rare disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. SIMILARITY: Contains 1 C-type lectin domain.
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 Q9BXN2
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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.
US Server
