Human Gene CD1E (ENST00000368157.5) from GENCODE V44
Description: Homo sapiens CD1e molecule (CD1E), transcript variant 12, mRNA. (from RefSeq NM_001185110) RefSeq Summary (NM_001185110): This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Many alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined. [provided by RefSeq, Jun 2010]. Gencode Transcript: ENST00000368157.5 Gencode Gene: ENSG00000158488.16 Transcript (Including UTRs) Position: hg38 chr1:158,353,989-158,356,896 Size: 2,908 Total Exon Count: 4 Strand: + Coding Region Position: hg38 chr1:158,353,989-158,356,896 Size: 2,908 Coding Exon Count: 4
ID:CD1E_HUMAN DESCRIPTION: RecName: Full=T-cell surface glycoprotein CD1e, membrane-associated; Short=hCD1e; AltName: Full=R2G1; AltName: CD_antigen=CD1e; Contains: RecName: Full=T-cell surface glycoprotein CD1e, soluble; Short=sCD1e; Flags: Precursor; FUNCTION: T-cell surface glycoprotein CD1e, soluble is required for the presentation of glycolipid antigens on the cell surface. The membrane-associated form is not active. SUBUNIT: Heterodimer with B2M (beta-2-microglobulin). The association with B2M appears to be facilitated by the presence of the propeptide. SUBCELLULAR LOCATION: T-cell surface glycoprotein CD1e, membrane- associated: Golgi apparatus membrane; Single-pass type I membrane protein. Early endosome. Late endosome. Note=Predominantly localized in the trans-Golgi network in immature dendritic cells, and as a cleaved, soluble protein in the lysosome lumen of mature dendritic cells. SUBCELLULAR LOCATION: T-cell surface glycoprotein CD1e, soluble: Lysosome lumen. TISSUE SPECIFICITY: Expressed on cortical thymocytes, dendritic cells, Langerhans cells, on certain T-cell leukemias, and in various other tissues. PTM: Mono-ubiquitinated. PTM: Proteolytically cleaved in late endosomes to yield a soluble form. POLYMORPHISM: Six alleles of CD1E are known. CD1E*01 has His- 102/Gln-106/Ser-149/Arg-164/Leu-194, CD1E*02 has His-102/Arg- 106/Ser-149/Arg-164/Leu-194, CD1E*03 (9L) has His-102/Gln-106/Ser- 149/Trp-164/Leu-194, CD1E*04 (15L) has His-102/Gln-106/Ser- 149/Arg-164/Pro-194, CD1E*05 has Arg-102/Arg-106/Ser-149/Arg- 164/Leu-194 and CD1E*06 has His-102/Arg-106/Asn-149/Arg-164/Leu- 194. The sequence shown is that of allele CD1E*01. SIMILARITY: Contains 1 Ig-like (immunoglobulin-like) domain. SEQUENCE CAUTION: Sequence=CAA33100.1; Type=Erroneous gene model prediction;
ModBase Predicted Comparative 3D Structure on P15812
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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:0002250 adaptive immune response GO:0002376 immune system process GO:0006955 immune response GO:0048007 antigen processing and presentation, exogenous lipid antigen via MHC class Ib
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