BTN1A1 (butyrophilin subfamily 1 member A1)

Gene

• Entrez ID: 696
• Gene name: Butyrophilin subfamily 1 member A1
• Gene symbol: BTN1A1
• Synonyms (NCBI Gene): BT, BTN, BTN1
• Chromosome: 6
• Chromosome location: 6p22.2
• Summary: Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (M

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT827294	hsa-miR-1251	CLIP-seq
MIRT827295	hsa-miR-15a	CLIP-seq
MIRT827296	hsa-miR-15b	CLIP-seq
MIRT827297	hsa-miR-16	CLIP-seq
MIRT827298	hsa-miR-195	CLIP-seq
MIRT827299	hsa-miR-3183	CLIP-seq
MIRT827300	hsa-miR-331-5p	CLIP-seq
MIRT827301	hsa-miR-3908	CLIP-seq
MIRT827302	hsa-miR-424	CLIP-seq
MIRT827303	hsa-miR-4463	CLIP-seq
MIRT827304	hsa-miR-4494	CLIP-seq
MIRT827305	hsa-miR-4524	CLIP-seq
MIRT827306	hsa-miR-4723-3p	CLIP-seq
MIRT827307	hsa-miR-495	CLIP-seq
MIRT827308	hsa-miR-497	CLIP-seq
MIRT827309	hsa-miR-503	CLIP-seq
MIRT827310	hsa-miR-548u	CLIP-seq
MIRT827311	hsa-miR-549	CLIP-seq
MIRT827312	hsa-miR-646	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001817	Process	Regulation of cytokine production	IBA
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005886	Component	Plasma membrane	TAS	8611614
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0038023	Function	Signaling receptor activity	TAS	8611614
GO:0050852	Process	T cell receptor signaling pathway	IBA

Other IDs

• MIM: 601610
• HGNC: 1135
• e!Ensembl: ENSG00000124557

Protein

• UniProt ID: Q13410
• Protein name: Butyrophilin subfamily 1 member A1 (BT)
• Protein function: May function in the secretion of milk-fat droplets. May act as a specific membrane-associated receptor for the association of cytoplasmic droplets with the apical plasma membrane (By similarity). Inhibits the proliferation of CD4 and CD8 T-cells
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	33 → 142	Immunoglobulin V-set domain	Domain
  PF08205	C2-set_2	146 → 229	CD80-like C2-set immunoglobulin domain	Domain
  PF13765	PRY	305 → 353	SPRY-associated domain	Family
  PF00622	SPRY	357 → 472	SPRY domain	Family

• Sequence:

  MAVFPSSGLPRCLLTLILLQLPKLDSAPFDVIGPPEPILAVVGEDAELPCRLSPNASAEH
  LELRWFRKKVSPAVLVHRDGREQEAEQMPEYRGRATLVQDGIAKGRVALRIRGVRVSDDG
  EYTCFFREDGSYEEALVHLKVAALGSDPHISMQVQENGEICLECTSVGWYPEPQVQWRTS
  KGEKFPSTSESRNPDEEGLFTVAASVIIRDTSAKNVSCYIQNLLLGQEKKVEISIPASSL
  PRLTPWIVAVAVILMVLGLLTIGSIFFTWRLYNERPRERRNEFSSKERLLEELKWKKATL
  HAVDVTLDPDTAHPHLFLYEDSKSVRLEDSRQKLPEKTERFDSWPCVLGRETFTSGRHYW
  EVEVGDRTDWAIGVCRENVMKKGFDPMTPENGFWAVELYGNGYWALTPLRTPLPLAGPPR
  RVGIFLDYESGDISFYNMNDGSDIYTFSNVTFSGPLRPFFCLWSSGKKPLTICPIADGPE
  RVTVIANAQDLSKEIPLSPMGEDSAPRDADTLHSKLIPTQPSQGAP

• Sequence length: 526

Pathways

Reactome:

Butyrophilin (BTN) family interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	32695099, 37643511	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32769037	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	31068771		★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	10319861, 10500178, 11053386, 12615067, 14660799, 16291725, 17341489, 17475770, 18697832, 19299465, 20485751, 22107873, 29438445, 9219333		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32695099	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31068771		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21293383		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31068771		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33101298	Associate	★☆☆☆☆ Found in Text Mining only