HLA-DMA Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | HLA-DMA |
| Official Name | major histocompatibility complex, class II, DM alpha [Source:HGNC Symbol;Acc:HGNC:4934] |
| Ensembl ID | ENSG00000204257 |
| Bio databases IDs | |
| Aliases | major histocompatibility complex, class II, DM alpha |
| Synonyms | CLASS II HISTOCOMPATIBILITY ANTIGEN M alpha subunit precursor, CLASS II HISTOCOMPATIBILITY ANTIGEN M α subunit precursor, D6S222E, DMA, DMA1, H2-dm, H2-DMa, H-2Ma, histocompatibility 2, class II, locus DMa, HLADM, LOC108348072, major histocompatibility complex, class II, DM alpha, major histocompatibility complex, class II, DM α, Mhcii dma, RING6, RT1 class II, locus DMa, RT1-DMa, RT1.DMa, RT1.Ma |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HLA-DMA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Immunoglobulin C1-set domain
- binding protein
- immunoglobulin domain
- immunoglobulin-like protein domain
- Class II histocompatibility antigen, alpha domain
- protein binding
- transmembrane receptor
Pathways
Biological processes and signaling networks where the HLA-DMA gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- experimental autoimmune encephalomyelitis
- delayed hypersensitive reaction
- diabetic nephropathy
- rheumatoid arthritis
- schizophrenia
- septic shock
- Sjogren syndrome keratoconjunctivitis sicca
- insulin-dependent diabetes mellitus
- dextran sodium sulfate-induced colitis
- pervasive developmental disorder
role in cell
- binding
- expression in
- proliferation
- apoptosis
- quantity
- function
- activation
- differentiation
- number
- selection
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- intracellular membrane-bounded organelle
- cell surface
- intracellular space
- lysosome
- lysosome membrane
- endosomal membrane
- late endosomes
- endocytotic vesicle
- multivesicular bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HLA-DMA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of T cell activation
- peptide antigen assembly with MHC class II protein complex
- adaptive immune response
- antigen processing and presentation of exogenous peptide antigen via MHC class II
- positive regulation of immune response
Cellular Component
Where in the cell the gene product is active
- MHC class II protein complex
- late endosome membrane
- intracellular membrane-bounded organelle
- membrane
- lysosomal membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- protein binding
- peptide antigen binding
- MHC class II protein complex binding