About: HLA-A wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • HLA-A wt Allele
equivalentClass
OMIM_Number
  • 142800
GenBank_Accession_Number
  • NM_002116
Semantic_Type
  • Gene or Genome
Preferred_Name
  • HLA-A wt Allele
UMLS_CUI
  • C1708276
GO_Annotation
  • integral to plasma membraneGO:0005887NAS29-SEP-2003CGAP
  • MHC class I receptor activityGO:0030106NAS29-SEP-2003CGAP
  • immune responseGO:0006955NAS29-SEP-2003CGAP
EntrezGene_ID
  • 3105
Legacy_Concept_Name
  • HLA-A_wt_Allele
HGNC_ID
  • HGNC:4931
FULL_SYN
  • Major Histocompatibility Complex, Class I, A wt AlleleSYNCI
  • HLA-A wt AllelePTNCI
  • HLAAABNCI
Gene_Encodes_Product
  • HLA-A2 Antigen
DEFINITION
  • Human HLA-A wild-type allele is located in the vicinity of 6p21.3 and is approximately 3 kb in length. This allele, which encodes HLA class I histocompatibility antigen, A-1 alpha chain protein, is involved in immune system peptide presentation.NCI
DesignNote
  • The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. Polymorphic alpha1/2 determines peptide binding specificity. Ig-like alpha3 mediates CD8 binding on cytotoxic T-lymphocytes. In the immune response, HLA antigens mediate antigen presentation to TCR. HLA-A2 subtypes are associated with decreased risk of HIV-1 infection and increased frequency of early-onset Alzheimer disease.
code
  • C51075
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