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BTN3A1 (butyrophilin subfamily 3 member A1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11119
Gene nameGene Name - the full gene name approved by the HGNC.
Butyrophilin subfamily 3 member A1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
BTN3A1
SynonymsGene synonyms aliases
BT3.1, BTF5, BTN3.1, CD277
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019201 hsa-miR-335-5p Microarray 18185580
MIRT051029 hsa-miR-17-5p CLASH 23622248
MIRT050606 hsa-miR-20a-5p CLASH 23622248
MIRT043159 hsa-miR-324-5p CLASH 23622248
MIRT168281 hsa-miR-106b-5p HITS-CLIP 22473208
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001816 Process Cytokine production IDA 21918970
GO:0001817 Process Regulation of cytokine production IBA 21873635
GO:0002250 Process Adaptive immune response IEA
GO:0005102 Function Signaling receptor binding IBA 21873635
GO:0005515 Function Protein binding IPI 21982860, 25637025, 29339503, 32814053
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O00481
Protein name Butyrophilin subfamily 3 member A1 (CD antigen CD277)
Protein function Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and trans
PDB 4F80 , 4F9L , 4F9P , 4JKW , 4K55 , 4N7I , 4N7U , 4V1P , 5HM7 , 5LYG , 5LYK , 5ZXK , 6ISM , 6ITA , 6J06 , 6XLQ , 8DFX , 8IXV , 8IZE , 8IZG , 8JYC , 8JYE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set
35 144
Immunoglobulin V-set domain
Domain
PF13765 PRY
342 390
SPRY-associated domain
Family
PF00622 SPRY
394 505
SPRY domain
Family
Sequence
MKMASFLAFLLLNFRVCLLLLQLLMPHSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSA
ETMELKWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASD
SGKYLCYFQDGDFYEKALVELKVA
ALGSDLHVDVKGYKDGGIHLECRSTGWYPQPQIQWS
NNKGENIPTVEAPVVADGVGLYAVAASVIMRGSSGEGVSCTIRSSLLGLEKTASISIADP
FFRSAQRWIAALAGTLPVLLLLLGGAGYFLWQQQEEKKTQFRKKKREQELREMAWSTMKQ
EQSTRVKLLEELRWRSIQYASRGERHSAYNEWKKALFKPADVILDPKTANPILLVSEDQR
SVQRAKEPQDLPDNPERFNWHYCVLGCESF
ISGRHYWEVEVGDRKEWHIGVCSKNVQRKG
WVKMTPENGFWTMGLTDGNKYRTLTEPRTNLKLPKPPKKVGVFLDYETGDISFYNAVDGS
HIHTFLDVSFSEALYPVFRILTLEP
TALTICPA
Sequence length 513
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Butyrophilin (BTN) family interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Lung carcinoma Small cell carcinoma of lung, Carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 28604730
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 26198764, 28540026
Unknown
Disease name Disease term dbSNP ID References
Development disorder Child Development Disorders, Pervasive 28540026
Mental depression Major Depressive Disorder rs587778876, rs587778877 29662059

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