HLA-DMA (major histocompatibility complex, class II, DM alpha)

Gene

• Entrez ID: 3108
• Gene name: Major histocompatibility complex, class II, DM alpha
• Gene symbol: HLA-DMA
• Synonyms: D6S222E, DMA, HLADM, RING6
• Chromosome: 6
• Chromosome location: 6p21.32
• Summary: HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018266	hsa-miR-335-5p	Microarray	18185580

Transcription factors

Transcription factor	Regulation	Reference
CIITA	Activation	9300700
CIITA	Unknown	7495736
RFX5	Unknown	11258423;7495736
RFXANK	Unknown	11258423
RFXAP	Unknown	11258423

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002503	Process	Peptide antigen assembly with MHC class II protein complex	IDA	7606781, 9075930, 22733780, 23260142
GO:0005515	Function	Protein binding	IPI	21131964, 23222639
GO:0005765	Component	Lysosomal membrane	IDA	9075930
GO:0005765	Component	Lysosomal membrane	TAS
GO:0009986	Component	Cell surface	IDA	22247549
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0023026	Function	MHC class II protein complex binding	IDA	9075930, 22733780, 23260142
GO:0031902	Component	Late endosome membrane	IDA	9075930
GO:0042613	Component	MHC class II protein complex	IDA	7606781, 22247549, 22733780
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA

Other IDs

• MIM: 142855
• HGNC: 4934
• e!Ensembl: ENSG00000204257

Protein

• UniProt ID: P28067
• Protein name: HLA class II histocompatibility antigen, DM alpha chain (MHC class II antigen DMA) (Really interesting new gene 6 protein)
• Protein function: Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
• PDB: 1HDM, 2BC4, 4FQX, 4GBX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00993	MHC_II_alpha	41 → 118	Class II histocompatibility antigen, alpha domain	Domain
  PF07654	C1-set	129 → 208	Immunoglobulin C1-set domain	Domain

• Sequence:

  MGHEQNQGAALLQMLPLLWLLPHSWAVPEAPTPMWPDDLQNHTFLHTVYCQDGSPSVGLS
  EAYDEDQLFFFDFSQNTRVPRLPEFADWAQEQGDAPAILFDKEFCEWMIQQIGPKLDGKI
  PVSRGFPIAEVFTLKPLEFGKPNTLVCFVSNLFPPMLTVNWHDHSVPVEGFGPTFVSAVD
  GLSFQAFSYLNFTPEPSDIFSCIVTHEIDRYTAIAYWVPRNALPSDLLENVLCGVAFGLG
  VLGIIVGIVLIIYFRKPCSGD

• Sequence length: 261

Pathways

KEGG:

Phagosome
Cell adhesion molecules
Antigen processing and presentation
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
Intestinal immune network for IgA production
Type I diabetes mellitus
Leishmaniasis
Toxoplasmosis
Staphylococcus aureus infection
Tuberculosis
Influenza A
Human T-cell leukemia virus 1 infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Asthma
Autoimmune thyroid disease
Inflammatory bowel disease
Systemic lupus erythematosus
Rheumatoid arthritis
Allograft rejection
Graft-versus-host disease
Viral myocarditis

Associated diseases

Disease name	Disease term	References
	Bipolar Disorder	29121268
	Contact Dermatitis	18348411
	Dermatitis, Occupational	16737583
	Child Development Disorders, Pervasive	28540026
	Diabetes Mellitus, Insulin-Dependent	17632545
	Industrial Dermatosis	16737583
	Multiple Sclerosis	17660530
	Arthritis, Psoriatic	30552173
	Schizophrenia	28540026, 29121268