Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P06126 (CD1a)
 2,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

CD1 molecules are specialized in presenting lipidic antigens to T lymphocytes. They are structurally and evolutionary related to MHC molecules and show very limited polymorphism. We have previously described and partially characterized a new human CD1A allele differing from the wild type CD1A by a substitution of Cysteine by Tryptophan at position 52 in the alpha1 domain of the CD1A molecule. The frequency of this allele varies from 10% in individuals of Caucasian origin to 56% in Chinese people. The aim of the present work was to structurally characterize this CD1A allele. To do this we have cloned and sequenced the full-length cDNA encoding the new CD1A allele. The cDNA sequence of this allele encodes a protein differing the wild type in two amino acids at positions 14 (Threonine versus Isoleucine) and 52 (Cysteine versus Tryptophan). The cDNAs encoding both wild type and mutant CD1A were cloned in the expression vector pSRalphaNeo and transfected into C1R and L721.221 cells. Cell surface expression of the protein products in transfected cell lines were analyzed by flow cytometry and immunoprecipitation using CD1a-specific monoclonal antibodies. Our results indicate that both allelic products are efficiently expressed on the cell surface.
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PMID:Structural characterization of two CD1A allelic variants. 1160 Feb 21

CD1a, an antigen-presenting molecule related to major histocompatibility complex (MHC) class I, is frequently described as nonpolymorphic. In humans it is dimorphic, due to two linked amino acid substitutions in the alpha1 domain (Ile13Thr and Trp51Cys). The CD1a gene on chromosome 1 is not linked to MHC and may be mismatched between human leukocyte antigen-identical siblings. We analyzed 155 donor-recipient pairs of the Eurobank cohort, 141 matched for CD1a and 14 unmatched in the graft-versus-host disease (GVHD) direction. The burden of GVHD was not increased by CD1a mismatching. The incidence of GVHD in matched and unmatched groups was respectively: grade I-IV: 81% and 86% (P = 0.492); II-IV 61% and 57% (P = 0.495); III-IV 23% and 21% (P = 0.608). Adjusting for age, sex mismatch, GVHD prophylaxis, and conditioning did not reveal any significant difference. This suggests that, unlike conventional class I molecules, CD1a does not function as a transplantation antigen and does not require matching in hematopoietic stem cell transplantation.
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PMID:Impact of mismatching CD1a, a dimorphic antigen-presenting molecule, on graft-versus-host disease after hematopoietic stem cell transplantation. 1713 Jul 88

CD1 is a small family comprising 5 MHC-like genes located on chromosome 1 and encoding glycoproteins termed CD1a, CD1b, CD1c, CD1d and CD1e. They are expressed mainly on the surface of dendritic cells, monocytes and some thymocytes and are specialized in presenting lipid antigens to T lymphocytes. The structure is similar to that of MHC class I molecules with 3 globular domains and the Beta2-microglobulin. It has been shown that all five human CD1 genes exhibit a limited number of polymorphisms in the alpha1 domain whose effects are still unknown. CD1e results to be the most polymorphic isoform with six CD1e alleles (01, 02 in exon 2 and 03, 04, 05, 06 in ex3) described to date. At this moment, few investigations on the allele frequencies of the CD1 genes have been reported and all additional information improves our knowledge on this new class of antigen-presenting molecules. In order to study possible allelic variations of exon 2 of human CD1a and CD1e genes, we analyzed, by a sensitive technique, the sequence-based typing (SBT), 114 DNA samples from unrelated healthy Italian individuals from the Abruzzo region. Our experimental findings indicate that the allele frequency distribution of both CD1a and CD1e genes is in accordance with that observed in other geographic areas and did not identify any new allele, thus confirming a very low polymorphism.
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PMID:CD1a and CD1e allele frequencies in an Italian population from the Abruzzo region. 1762 57

CD1 molecules are the major histocompatibility complex (MHC)-like glycoproteins specialized in capturing and presenting a variety of glycolipid to antigen-specific T-cells. There are five closely linked CD1 genes termed as CD1a, CD1b, CD1c, CD1d, and CD1e. CD1 gene features limited the polymorphism in exon 2 which encodes for the alpha1 domain. Few investigations on the allele frequencies of the CD1 genes have been reported to date; however, variation of CD1 allele frequency in different ethnics has been observed. In the current study, the CD1a, CD1d, and CD1e gene polymorphisms in exon 2 (alleles 01 and 02) in a group of normal Chinese Han and She individuals were analyzed. Similar allele prevalence was observed between the two populations. The CD1e allele frequency was 37.1% (allele 01); 62.9% (allele 02) and 39.3% (allele 01); 60.7% (allele 02) for Han and She populations, respectively. CD1e was the only polymorphic gene with a genotype frequency for Chinese Han (01/01, 11.0%; 01/02, 52.2%; 02/02, 36.8%) and She (01/01, 13.2%; 01/02, 52.1%; 02/02, 34.7%) individuals, respectively. No CD1a allele 01 and CD1d allele 02 were observed in either population. Our findings indicate that the polymorphism of CD1a, CD1d, and CD1e genes in exon 2 is very limited in the Chinese Han and She ethnics.
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PMID:Polymorphism of human CD1a, CD1d, and CD1e in exon 2 in Chinese Han and She ethnic populations. 2013 74