• Gene id: 11119

Gene Summary

• Gene Symbol: BTN3A1   Gene   UCSC   Ensembl
• Aliases: BT3.1, BTF5, BTN3.1, CD277
• Gene name: butyrophilin subfamily 3 member A1
• Alternate names: butyrophilin subfamily 3 member A1, dJ45P21.3 (butyrophilin, subfamily 3, member A1),
• Gene location: 6p22.2 (26402268: 26415215)     Exons: 11     NC_000006.12
• Gene summary(Entrez): 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 hum
• OMIM: 613593

Protein Summary

• Protein general information: O00481  
  • Name: Butyrophilin subfamily 3 member A1 (CD antigen CD277)
  • Length: 513  
  • Mass: 57677
  • Tissue specificity: Detected on T-cells, natural killer cells, dendritic cells and macrophages (at protein level). Ubiquitous. Highly expressed in heart, pancreas and lung, Moderately expressed in placenta, liver and muscle. {ECO
• Sequence:

  MKMASFLAFLLLNFRVCLLLLQLLMPHSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSAETMELKWVSSSLRQV
  VNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAALGSDL
  HVDVKGYKDGGIHLECRSTGWYPQPQIQWSNNKGENIPTVEAPVVADGVGLYAVAASVIMRGSSGEGVSCTIRSS
  LLGLEKTASISIADPFFRSAQRWIAALAGTLPVLLLLLGGAGYFLWQQQEEKKTQFRKKKREQELREMAWSTMKQ
  EQSTRVKLLEELRWRSIQYASRGERHSAYNEWKKALFKPADVILDPKTANPILLVSEDQRSVQRAKEPQDLPDNP
  ERFNWHYCVLGCESFISGRHYWEVEVGDRKEWHIGVCSKNVQRKGWVKMTPENGFWTMGLTDGNKYRTLTEPRTN
  LKLPKPPKKVGVFLDYETGDISFYNAVDGSHIHTFLDVSFSEALYPVFRILTLEPTALTICPA

• Structural information:
  • Protein Domains: (30..13-)
    1 (/note="Ig-like-V-type)
    (145..23-)
    2 (/note="Ig-like-V-type)
    (322..51-)
    (/note="B30.2/SPRY-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00548"-)
  • Interpro: IPR001870  IPR003879  IPR013320  IPR007110  IPR036179   IPR013783  IPR003599  IPR013106  IPR006574  IPR003877  IPR037954  
  • Prosite: PS50188 PS50835
  • CDD: cd15820
  • PDB: 4F80 4F9L 4F9P 4JKW 4K55 4N7I 4N7U 4V1P 5HM7 5LYG 5LYK 5ZXK 6ISM 6ITA 6J06
  • PDBsum: 4F80 4F9L 4F9P 4JKW 4K55 4N7I 4N7U 4V1P 5HM7 5LYG 5LYK 5ZXK 6ISM 6ITA 6J06
  • STRING: ENSP00000289361
• Other Databases: GeneCards:  BTN3A1  Malacards:  BTN3A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050776	regulation of immune response	IBA	biological process
GO:0001817	regulation of cytokine production	IBA	biological process
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0050852	T cell receptor signaling pathway	IDA	biological process
GO:0050663	cytokine secretion	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0050798	activated T cell proliferation	IMP	biological process
GO:0072643	interferon-gamma secretion	IMP	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)