HLA-A

Gene Information
 
Gene Symbol
HLA-A
 
Aliases
HLAA
 
Entrez Gene ID
 
Gene Name
Major histocompatibility complex, class I, A
 
Chromosomal Location
6p21.3
 
HGNC ID
 
Summary
HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. 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. (provided by RefSeq, Jul 2008)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006955 Biological process Immune response NAS 6609814
GO:0005887 Cellular component Integral component of plasma membrane NAS 6609814
GO:0070062 Cellular component Extracellular vesicular exosome IDA 11487543
GO:0005102 Molecular function Receptor binding IPI 19124746
GO:0005515 Molecular function Protein binding IPI 12414957
Protein Information
 
Protein Name
HLA class I histocompatibility antigen, A-28 alpha chain , HLA class I histocompatibility antigen, A-10 alpha chain , MHC class I antigen A*30 , MHC class I antigen A*74 , MHC class I antigen A*68 , Aw-43 , antigen presenting molecule , MHC class I antigen A*66 , Aw-24 , MHC class I antigen A*31 , Aw-36 , HLAA , MHC class I antigen A*23 , MHC class I antigen A*33 , Aw-69 , Aw-68 , MHC class I antigen A*43 , MHC class I antigen A*34 , Aw-80 , HLA class I histocompatibility antigen, A-9 alpha chain , major histocompatibility complex, class I, A, leukocyte antigen class I-A , MHC class I antigen A*25 , MHC class I antigen A*80 , MHC class I antigen A*3 , Aw-33 , MHC class I antigen A*69 , Aw-34 , MHC class I antigen A*24 , MHC class I antigen A*32 , MHC class I antigen A*36 , HLA class I histocompatibility antigen, A-1 alpha chain , MHC class I antigen A*11 , MHC class I antigen A*26 , MHC class I antigen A*2 , Aw-74 , MHC class I antigen A*1 , Aw-19 , Aw-66 , MHC class I antigen HLA-A heavy chain , MHC class I antigen A*29
 
Function
Involved in the presentation of foreign antigens to the immune system
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00129 MHC_I Class I Histocompatibility antigen, domains alpha 1 and 2
PF06623 MHC_I_C MHC_I C-terminus
PF07654 C1-set Immunoglobulin C1-set domain
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Autoimmunity 12233265
Cancer (carcinoma) 14691914, 15778609, 1905582, 12869143, 1769788, 1592528
Celiac disease 12591055
Diabetes mellitus insulin-dependent 11502807, 9201596
Endometriosis 16412734, 12571436, 11783390
   
References
 
Primary:

Association of polycystic ovarian syndrome with human leukocyte antigen polymorphism in Korean women.

Kim Jin Ju, Hwang Kyu Ri, Shin Sue, Yoon Jong Hyun, Kim Byoung Jae, Choi Young Min, Roh Eun Youn
Department of Obstetrics and Gynecology, Healthcare System Gangnam Center, Seoul National University College of Medicine, Korea.
APMIS. 2011 Sep;119(9):618-25. doi: 10.1111/j.1600-0463.2011.02779.x. Epub 2011

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
21851420
Association of polycystic ovarian syndrome with human leukocyte antigen polymorphism in Korean women. 
Clinical study 

 

| © 2015, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412