Description:
HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
|
HLA TYPING |
HLA type; A:3; B:7; D:2; DR:2; DP:4 |
|
Remarks |
HLA type; A:3,B:7,D:2,DR:2,DP:4 line PGF; consanguineous parents |
Hu T, Mosbruger TL, Tairis NG, Dinou A, Jayaraman P, Sarmady M, Brewster K, Li Y, Hayeck TJ, Duke JL, Monos DS, Targeted and complete genomic sequencing of the Major Histocompatibility Complex in haplotypic form of individual heterozygous samples Genome research: 2023 |
PubMed ID: 39327030 |
|
Clark PM, Chitnis N, Shieh M, Kamoun M, Johnson FB, Monos D, Novel and Haplotype Specific MicroRNAs Encoded by the Major Histocompatibility Complex Scientific reports8:3832 2017 |
PubMed ID: 29497078 |
|
Nag B, Arimilli S, Mukku PV, Astafieva I, Functionally active recombinant alpha and beta chain-peptide complexes of human major histocompatibility class II molecules. J Biol Chem271:10413-8 1996 |
PubMed ID: 8626615 |
|
Arimilli S, Cardoso C, Mukku P, Baichwal V, Nag B, Refolding and reconstitution of functionally active complexes of human leukocyte antigen DR2 and myelin basic protein peptide from recombinant alpha and beta polypeptide chains. J Biol Chem270:971-7 1995 |
PubMed ID: 7529765 |
|
Fernsten PD, Pekny KW, Reisfeld RA, Walker LE, Antigens associated with human squamous cell lung carcinoma defined by murine monoclonal antibodies. Cancer Res46:2970-7 1986 |
PubMed ID: 3009005 |
|
Giles RC, DeMars R, Chang CC, Capra JD, Allelic polymorphism and transassociation of molecules encoded by the HLA-DQ subregion. Proc Natl Acad Sci U S A82:1776-80 1985 |
PubMed ID: 3856859 |
|
Walker LE, Ketler TA, Houghten RA, Schulz G, Chersi A, Reisfeld RA, Human major histocompatibility complex class I antigens: residues 61-83 of the HLA-B7 heavy chain specify an alloreactive site. Proc Natl Acad Sci U S A82:539-42 1985 |
PubMed ID: 3881768 |
|
Brodsky FM, A matrix approach to human class II histocompatibility antigens: reactions of four monoclonal antibodies with the products of nine haplotypes. Immunogenetics19:179-194 1984 |
PubMed ID: 6200433 |
|
Kuo MC, Li XM, Marti GE, Sachs JA, Sogn JA, Coligan JE, Kindt TJ, Primary structural sequence polymorphism in the human class II MHC antigen 33.1. Immunogenetics19:27-37 1984 |
PubMed ID: 6319275 |
|
Engelhard VH, Benjamin C, Xenogeneic cytotoxic T-cell clones recognize alloantigenic determinants on HLA-A2. Immunogenetics18:461-473 1983 |
PubMed ID: 6196283 |
|
Goyert SM, Silver J, Further characterization of HLA-DS molecules: implications for studies assessing the role of human Ia molecules in cell interactions and disease susceptibility. Proc Natl Acad Sci U S A80:5719-23 1983 |
PubMed ID: 6193521 |
|
Niman HL, Houghten RA, Walker LE, Reisfeld RA, Wilson IA, Hogle JM, Lerner RA, Generation of protein-reactive antibodies by short peptides is an event of high frequency: implications for the structural basis of immune recognition. Proc Natl Acad Sci U S A80:4949-53 1983 |
PubMed ID: 6192445 |
|
Shipp MA, Schwartz BD, Kannapell CC, Griffith RC, Scott MG, Ahmed P, Davie JM, Nahm MH, A unique DR-related B cell differentiation antigen. J Immunol131:2458-67 1983 |
PubMed ID: 6415171 |
|
Walker LE, Hewick R, Hunkapiller MW, Hood LE, Dreyer WJ, Reisfeld RA, N-terminal amino acid sequences of the alpha and beta chains of HLA-DR1 and HLA-DR2 antigens. Biochemistry22:185-8 1983 |
PubMed ID: 6600932 |
|
Goyert SM, Shively JE, Silver J, Biochemical characterization of a second family of human Ia molecules, HLA-DS, equivalent to murine I-A subregion molecules. J Exp Med156:550-66 1982 |
PubMed ID: 6808075 |
|
Karr RW, Kannapell CC, Stein JA, Fuller TC, Duquesnoy RJ, Rodey GE, Mann DL, Gebel HM, Schwartz BD, Demonstration of a third structurally distinct human Ia beta chain by two-dimensional gel electrophoresis. J Exp Med156:652-7 1982 |
PubMed ID: 6980260 |
|
Quaranta V, Walker LE, Ruberto G, Pellegrino MA, Ferrone S, The free and the beta 2-microglobulin-associated heavy chains of HLA-A, B alloantigens share the antigenic determinant recognized by the monoclonal antibody Q1/28. Immunogenetics13:285-95 1981 |
PubMed ID: 6168579 |
|
Quaranta V, Walker LE, Pellegrino MA, Ferrone S, Purification of immunologically functional subsets of human Ia-like antigens on a monoclonal antibody (Q5/13) immunoadsorbent. J Immunol125:1421-5 1980 |
PubMed ID: 6157732 |
dbSNP |
dbSNP ID: 10605 |
Gene Cards |
HLA-A |
|
HLA-DPA1 |
|
HLA-DRA |
Gene Ontology |
GO:0005887 integral to plasma membrane |
|
GO:0006955 immune response |
|
GO:0019883 antigen presentation, endogenous antigen |
|
GO:0019884 antigen presentation, exogenous antigen |
|
GO:0019885 antigen processing, endogenous antigen via MHC class I |
|
GO:0019886 antigen processing, exogenous antigen via MHC class II |
|
GO:0030106 MHC class I receptor activity |
|
GO:0045012 MHC class II receptor activity |
NCBI Gene |
Gene ID:3105 |
|
Gene ID:3113 |
|
Gene ID:3122 |
NCBI GTR |
142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A |
|
142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA |
|
142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1 |
OMIM |
142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A |
|
142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA |
|
142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1 |
Omim Description |
HLA-A HISTOCOMPATIBILITY TYPE |
|
MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A |
|
HLA-DR HISTOCOMPATIBILITY TYPE; HLA-DRA |
|
MAJOR HISTOCOMPATIBILITY COMPLEX II, DR ALPHA; HLA-DRA1 |
|
HLA-SB HISTOCOMPATIBILITY TYPE; HLASB; HLADP |
|
MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1 |
|
|