• Gene id: 3111

Gene Summary

• Gene Symbol: HLA-DOA   Gene   UCSC   Ensembl
• Aliases: HLA-DNA, HLA-DZA, HLADZ
• Gene name: major histocompatibility complex, class II, DO alpha
• Alternate names: HLA class II histocompatibility antigen, DO alpha chain, HLA-D0-alpha, MHC DN-alpha, MHC DZ alpha, MHC class II antigen DOA, lymphocyte antigen, major histocompatibility complex, class II, DN alpha,
• Gene location: 6p21.32 (33009590: 33004181)     Exons: 7     NC_000006.12
• Gene summary(Entrez): HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with cla
• OMIM: 142930

Protein Summary

• Protein general information: P06340  
  • Name: HLA class II histocompatibility antigen, DO alpha chain (MHC DN alpha) (MHC DZ alpha) (MHC class II antigen DOA)
  • Length: 250  
  • Mass: 27599
• Sequence:

  MALRAGLVLGFHTLMTLLSPQEAGATKADHMGSYGPAFYQSYGASGQFTHEFDEEQLFSVDLKKSEAVWRLPEFG
  DFARFDPQGGLAGIAAIKAHLDILVERSNRSRAINVPPRVTVLPKSRVELGQPNILICIVDNIFPPVINITWLRN
  GQTVTEGVAQTSFYSQPDHLFRKFHYLPFVPSAEDVYDCQVEHWGLDAPLLRHWELQVPIPPPDAMETLVCALGL
  AIGLVGFLVGTVLIIMGTYVSSVPR

• Structural information:
  • Protein Domains: (113..20-)
    (/note="Ig-like-C1-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003006  IPR003597   IPR011162  IPR014745  IPR001003  
  • Prosite: PS50835 PS00290
  • PDB: 4I0P
  • PDBsum: 4I0P
  • DIP: 60116
  • STRING: ENSP00000229829
• Other Databases: GeneCards:  HLA-DOA  Malacards:  HLA-DOA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019882	antigen processing and presentation	IEA	biological process
GO:0006955	immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0042613	MHC class II protein complex	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0002504	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042613	MHC class II protein complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	IEA	biological process
GO:0045580	regulation of T cell differentiation	IEA	biological process
GO:0019882	antigen processing and presentation	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0002587	negative regulation of antigen processing and presentation of peptide antigen via MHC class II	IDA	biological process
GO:0042613	MHC class II protein complex	IDA	cellular component
GO:0023026	MHC class II protein complex binding	IDA	molecular function
GO:0032395	MHC class II receptor activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa05166	Human T-cell leukemia virus 1 infection
hsa05169	Epstein-Barr virus infection
hsa05152	Tuberculosis
hsa04145	Phagosome
hsa05164	Influenza A
hsa04514	Cell adhesion molecules
hsa05322	Systemic lupus erythematosus
hsa04659	Th17 cell differentiation
hsa05145	Toxoplasmosis
hsa04658	Th1 and Th2 cell differentiation
hsa05150	Staphylococcus aureus infection
hsa04640	Hematopoietic cell lineage
hsa05323	Rheumatoid arthritis
hsa05140	Leishmaniasis
hsa04612	Antigen processing and presentation
hsa05321	Inflammatory bowel disease
hsa05416	Viral myocarditis
hsa04672	Intestinal immune network for IgA production
hsa05320	Autoimmune thyroid disease
hsa04940	Type I diabetes mellitus
hsa05310	Asthma
hsa05332	Graft-versus-host disease
hsa05330	Allograft rejection

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray