HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BTN1A1
butyrophilin subfamily 1 member A1
Chromosome 6 · 6p22.2
NCBI Gene: 696Ensembl: ENSG00000124557.14HGNC: HGNC:1135UniProt: Q13410
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615protein bindingT cell receptor signaling pathwayexternal side of plasma membraneneurodegenerative diseaseneoplasmchronic obstructive pulmonary diseasecancer
✦AI Summary

BTN1A1 (butyrophilin subfamily 1 member A1) is a multifunctional transmembrane protein with roles in both lactation and immune regulation. In the mammary gland, BTN1A1 functions in milk-fat droplet secretion by binding xanthine oxidoreductase (XOR) through its cytoplasmic PRY/SPRY/B30.2 domain, stabilizing XOR association with the milk fat globule membrane 1. Beyond lactation, BTN1A1 acts as a coinhibitory immune checkpoint that suppresses T-cell activation 2. BTN1A1-expressing cells inhibit CD4 and CD8 T-cell proliferation, T-cell metabolism, and IL-2 and IFN-gamma secretion 2. Importantly, BTN1A1 expression is mutually exclusive with PD-L1 in tumors, as BTN1A1 inhibits JAK/STAT signaling-induced PD-L1 upregulation, suggesting it represents an alternative immune evasion mechanism 3. BTN1A1 shows clinical relevance across multiple cancers: elevated expression correlates with poor prognosis in BRAF-mutated peritoneal colorectal cancer 4, and it was identified as a ferroptosis-related immune checkpoint in breast cancer 5. BTN1A1 also appears mechanistically linked to multiple sclerosis 6 and supports platelet production in vitro 7. Antibody-mediated BTN1A1 blockade suppresses tumor growth in preclinical models, establishing it as a viable immunotherapeutic target for anti-PD-1/PD-L1-refractory cancers 3.

Sources cited
1
BTN1A1 binds xanthine oxidoreductase through its PRY/SPRY/B30.2 domain and stabilizes XOR association with milk fat globule membrane
PMID: 19531472
2
BTN1A1 inhibits CD4 and CD8 T-cell proliferation, T-cell metabolism, IL-2 and IFN-gamma secretion, functioning as a T-cell coinhibitor
PMID: 20208008
3
BTN1A1 is a novel immune checkpoint mutually exclusive to PD-L1; BTN1A1 inhibits JAK/STAT signaling and antibody blockade enhances anti-tumor immunity
PMID: 38485289
4
BTN1A1 is upregulated in BRAF-mutated peritoneal colorectal cancer and associated with poor survival, representing a novel therapeutic target
PMID: 38982444
5
BTN1A1 was identified as one of 10 ferroptosis-related immune checkpoints in breast cancer with prognostic and therapeutic significance
PMID: 37643511
6
BTN1A1 was identified as a significantly positive plasma protein associated with multiple sclerosis through Mendelian randomization analysis
PMID: 40108295
7
BTN1A1 improves platelet production from pluripotent stem cell-derived megakaryocytes by up to 2-fold in engineered scaffolds
PMID: 40270202
8
BTN1A1 is a mammary gland-derived protein present in extracellular vesicles from human milk
PMID: 38602306
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.47Moderate
neoplasmOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.02Suggestive
myeloid sarcomaOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.02Suggestive
juvenile neuronal ceroid lipofuscinosisOpen Targets
0.02Suggestive
multiple myelomaOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
psoriatic arthritisOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
Mungan syndromeOpen Targets
0.01Suggestive
polycystic ovary syndromeOpen Targets
0.01Suggestive
atherosclerosisOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
gastric adenocarcinomaOpen Targets
0.01Suggestive
pulmonary arterial hypertensionOpen Targets
0.01Suggestive
subacute thyroiditisOpen Targets
0.01Suggestive
thyroiditisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BTNL9Shared pathway100%ERMAPShared pathway100%BTNL8Shared pathway100%BTNL2Shared pathway100%BTNL3Shared pathway100%XDHProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
67%
Lung
23%
Liver
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
BTN1A1BTNL9ERMAPBTNL8BTNL2BTNL3XDH
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q13410
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.57–1.08]
RankingsWhere BTN1A1 stands among ~20K protein-coding genes
  • #10,923of 20,598
    Most Researched35
  • #10,904of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedBTN1A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Analysis of a new therapeutic target and construction of a prognostic model for breast cancer based on ferroptosis genes.
PMID: 37643511
Comput Biol Med · 2023
1.00
2
Multi-omic biomarkers associated with multiple sclerosis: from Mendelian randomization to drug prediction.
PMID: 40108295
Sci Rep · 2025
0.90
3
Neonatal enteroids absorb extracellular vesicles from human milk-fed infant digestive fluid.
PMID: 38602306
J Extracell Vesicles · 2024
0.80
4
The PRY/SPRY/B30.2 domain of butyrophilin 1A1 (BTN1A1) binds to xanthine oxidoreductase: implications for the function of BTN1A1 in the mammary gland and other tissues.
PMID: 19531472
J Biol Chem · 2009
0.70
5
Novel drug resistance mechanisms and drug targets in BRAF-mutated peritoneal metastasis from colorectal cancer.
PMID: 38982444
J Transl Med · 2024
0.60