BTN3A1 Gene Summary [Human]
The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]
Details
| Type | Protein Coding |
| Official Symbol | BTN3A1 |
| Official Name | butyrophilin subfamily 3 member A1 [Source:HGNC Symbol;Acc:HGNC:1138] |
| Ensembl ID | ENSG00000026950 |
| Bio databases IDs | |
| Aliases | butyrophilin subfamily 3 member A1 |
| Synonyms | BT3.1, BTF5, butyrophilin subfamily 3 member A1, CD277 |
| Species | Human, Homo sapiens |
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 BTN3A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- SPRY domain
- Immunoglobulin V-Type
- immunoglobulin domain
- Immunoglobulin like
- Immunoglobulin I-set domain
- protein binding
- associated with SPRY domains
- SPRY-associated domain
- Immunoglobulin V-set domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- major depression
- schizophrenia
- insulin-dependent diabetes mellitus
- COVID-19
- bipolar disorder
- pervasive developmental disorder
- Rett syndrome
- small cell lung carcinoma
- small cell lung cancer
- lung carcinoma
role in cell
- production in
- proliferation
- signaling in
- stimulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cellular membrane
- Plasma Membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BTN3A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of interferon-gamma production
- adaptive immune response
- regulation of cytokine production
- positive regulation of cytokine production
- T cell receptor signaling pathway
- activated T cell proliferation
Cellular Component
Where in the cell the gene product is active
- external side of plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- receptor binding