BTN1A1: Butyrophilin Subfamily 1 Member A1
Key regulator of milk lipid secretion and immune modulation
Gene Information Card
| Symbol | BTN1A1 |
|---|---|
| Full Name | Butyrophilin Subfamily 1 Member A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 696 ncbi.nlm.nih.gov/gene/696 |
| Ensembl ID | ENSG00000124562 |
| UniProt ID | Q13410 |
| OMIM ID | 601610 |
| HGNC ID | 1135 |
| Aliases | BTN, BTN1, FLJ10179 |
Description
BTN1A1 encodes a member of the butyrophilin family, which are type I membrane glycoproteins belonging to the immunoglobulin superfamily. This protein is predominantly expressed in the mammary gland and is essential for the secretion of milk lipid droplets. It also plays a role in immune regulation through interactions with T cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Milk lipid secretion defect | Loss of BTN1A1 disrupts formation of milk fat globules, leading to impaired lactation | Mouse models (Ogg et al., 2004, PMID: 15070780) |
| Breast cancer | Altered BTN1A1 expression may influence tumor immune microenvironment | Expression studies in breast cancer tissues (NCBI GEO) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Mammary gland | High | Tissue-specific high expression |
| Adipose tissue | Low | Low expression |
| Skin | Low | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF-7 | High | Breast cancer cell line |
| MDA-MB-231 | Moderate | Breast cancer cell line |
| HEK293 | Low | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | Rare | p.Met1Val; potential loss of start codon |
| c.100C>T | missense | Rare | p.Arg34Cys; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Disruption of milk lipid secretion in knockout models
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
Pathways
• Milk lipid secretion (Reactome: R-HSA-8856828)
• Immunoregulatory interactions (Reactome: R-HSA-198933)
Protein Summary
BTN1A1 is a 526-amino acid type I membrane protein with an extracellular immunoglobulin-like domain, a transmembrane region, and a cytoplasmic B30.2 (PRY/SPRY) domain. It is a major component of the milk fat globule membrane and is critical for the secretion of lipids into milk. The protein also has immunomodulatory functions, potentially inhibiting T-cell activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BTN1A1 Knockout HEK293 Cell Line | EDJ-KQ4152 | Human | 696 | Details Get a Quote |
| BTN1A1 Knockout HeLa Cell Line | EDJ-KQ52738 | Human | 696 | Details Get a Quote |
| BTN1A1 Knockout A-549 Cell Line | EDJ-KQ61209 | Human | 696 | Details Get a Quote |
| BTN1A1 Knockout HCT 116 Cell Line | EDJ-KQ69702 | Human | 696 | Details Get a Quote |
