LOCUS       NM_007048               3388 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens butyrophilin subfamily 3 member A1 (BTN3A1),
            transcript variant 1, mRNA.
ACCESSION   NM_007048
VERSION     NM_007048.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3388)
  AUTHORS   Liu,J., Wu,M., Yang,Y., Mei,X., Wang,L., Wang,J., Wang,Z., He,S.,
            Liu,H., Jiang,H., Qu,S., Zhang,Y., Chen,Y., Tian,X., Huang,Y. and
            Wang,H.
  TITLE     BTN3A1 expressed in cervical cancer cells promotes Vgamma9Vdelta2 T
            cells exhaustion through upregulating transcription factors NR4A2/3
            downstream of TCR signaling
  JOURNAL   Cell Commun Signal 22 (1), 459 (2024)
   PUBMED   39342337
  REMARK    GeneRIF: BTN3A1 expressed in cervical cancer cells promotes
            Vgamma9Vdelta2 T cells exhaustion through upregulating
            transcription factors NR4A2/3 downstream of TCR signaling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3388)
  AUTHORS   Xu,W.D., Yang,C., Li,R., Tang,Y.Y., Wang,D.C. and Huang,A.F.
  TITLE     Association of BTN3A1 gene polymorphisms with systemic lupus
            erythematosus in a Chinese Han population
  JOURNAL   Int J Rheum Dis 27 (3), e15112 (2024)
   PUBMED   38450995
  REMARK    GeneRIF: Association of BTN3A1 gene polymorphisms with systemic
            lupus erythematosus in a Chinese Han population.
REFERENCE   3  (bases 1 to 3388)
  AUTHORS   Tang,Y.Y., Xu,W.D., Fu,L., Liu,X.Y. and Huang,A.F.
  TITLE     Synergistic effects of BTN3A1, SHP2, CD274, and STAT3 gene
            polymorphisms on the risk of systemic lupus erythematosus: a
            multifactorial dimensional reduction analysis
  JOURNAL   Clin Rheumatol 43 (1), 489-499 (2024)
   PUBMED   37688767
  REMARK    GeneRIF: Synergistic effects of BTN3A1, SHP2, CD274, and STAT3 gene
            polymorphisms on the risk of systemic lupus erythematosus: a
            multifactorial dimensional reduction analysis.
REFERENCE   4  (bases 1 to 3388)
  AUTHORS   Yuan,L., Ma,X., Yang,Y., Qu,Y., Li,X., Zhu,X., Ma,W., Duan,J.,
            Xue,J., Yang,H., Huang,J.W., Yi,S., Zhang,M., Cai,N., Zhang,L.,
            Ding,Q., Lai,K., Liu,C., Zhang,L., Liu,X., Yao,Y., Zhou,S., Li,X.,
            Shen,P., Chang,Q., Malwal,S.R., He,Y., Li,W., Chen,C., Chen,C.C.,
            Oldfield,E., Guo,R.T. and Zhang,Y.
  TITLE     Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate
            Vgamma9Vdelta2 T cells
  JOURNAL   Nature 621 (7980), 840-848 (2023)
   PUBMED   37674084
  REMARK    GeneRIF: Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate
            Vgamma9Vdelta2 T cells.
REFERENCE   5  (bases 1 to 3388)
  AUTHORS   Nguyen,K., Jin,Y., Howell,M., Hsiao,C.C., Wiemer,A.J. and
            Vinogradova,O.
  TITLE     Mutations to the BTN2A1 Linker Region Impact Its Homodimerization
            and Its Cytoplasmic Interaction with Phospho-Antigen-Bound BTN3A1
  JOURNAL   J Immunol 211 (1), 23-33 (2023)
   PUBMED   37171180
  REMARK    GeneRIF: Mutations to the BTN2A1 Linker Region Impact Its
            Homodimerization and Its Cytoplasmic Interaction with
            Phospho-Antigen-Bound BTN3A1.
REFERENCE   6  (bases 1 to 3388)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   7  (bases 1 to 3388)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   8  (bases 1 to 3388)
  AUTHORS   Rhodes,D.A., Stammers,M., Malcherek,G., Beck,S. and Trowsdale,J.
  TITLE     The cluster of BTN genes in the extended major histocompatibility
            complex
  JOURNAL   Genomics 71 (3), 351-362 (2001)
   PUBMED   11170752
REFERENCE   9  (bases 1 to 3388)
  AUTHORS   Ruddy,D.A., Kronmal,G.S., Lee,V.K., Mintier,G.A., Quintana,L.,
            Domingo,R. Jr., Meyer,N.C., Irrinki,A., McClelland,E.E., Fullan,A.,
            Mapa,F.A., Moore,T., Thomas,W., Loeb,D.B., Harmon,C.,
            Tsuchihashi,Z., Wolff,R.K., Schatzman,R.C. and Feder,J.N.
  TITLE     A 1.1-Mb transcript map of the hereditary hemochromatosis locus
  JOURNAL   Genome Res 7 (5), 441-456 (1997)
   PUBMED   9149941
REFERENCE   10 (bases 1 to 3388)
  AUTHORS   Tazi-Ahnini,R., Henry,J., Offer,C., Bouissou-Bouchouata,C.,
            Mather,I.H. and Pontarotti,P.
  TITLE     Cloning, localization, and structure of new members of the
            butyrophilin gene family in the juxta-telomeric region of the major
            histocompatibility complex
  JOURNAL   Immunogenetics 47 (1), 55-63 (1997)
   PUBMED   9382921
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC417480.1, BC118586.1, AL021917.4 and AA977088.1.
            
            On Nov 23, 2018 this sequence version replaced NM_007048.5.
            
            Summary: 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 human BTN genes are located in the MHC class I
            region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2
            (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which
            have undergone tandem duplication, resulting in 3 copies of each
            (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by
            OMIM, Nov 2010].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U90552.2, SRR1660807.260712.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000289361.11/ ENSP00000289361.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 DC417480.1         39-39
            2-2043              BC118586.1         1-2042
            2044-3386           AL021917.4         130045-131387
            3387-3388           AA977088.1         9-10                c
FEATURES             Location/Qualifiers
     source          1..3388
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.2"
     gene            1..3388
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /note="butyrophilin subfamily 3 member A1"
                     /db_xref="GeneID:11119"
                     /db_xref="HGNC:HGNC:1138"
                     /db_xref="MIM:613593"
     exon            1..138
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /inference="alignment:Splign:2.1.0"
     exon            139..415
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /inference="alignment:Splign:2.1.0"
     CDS             331..1872
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; dJ45P21.3 (butyrophilin, subfamily 3, member
                     A1)"
                     /codon_start=1
                     /product="butyrophilin subfamily 3 member A1 isoform a
                     precursor"
                     /protein_id="NP_008979.3"
                     /db_xref="CCDS:CCDS4608.1"
                     /db_xref="GeneID:11119"
                     /db_xref="HGNC:HGNC:1138"
                     /db_xref="MIM:613593"
                     /translation="MKMASFLAFLLLNFRVCLLLLQLLMPHSAQFSVLGPSGPILAMV
                     GEDADLPCHLFPTMSAETMELKWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRD
                     GITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAALGSDLHVDVKGYKDG
                     GIHLECRSTGWYPQPQIQWSNNKGENIPTVEAPVVADGVGLYAVAASVIMRGSSGEGV
                     SCTIRSSLLGLEKTASISIADPFFRSAQRWIAALAGTLPVLLLLLGGAGYFLWQQQEE
                     KKTQFRKKKREQELREMAWSTMKQEQSTRVKLLEELRWRSIQYASRGERHSAYNEWKK
                     ALFKPADVILDPKTANPILLVSEDQRSVQRAKEPQDLPDNPERFNWHYCVLGCESFIS
                     GRHYWEVEVGDRKEWHIGVCSKNVQRKGWVKMTPENGFWTMGLTDGNKYRTLTEPRTN
                     LKLPKPPKKVGVFLDYETGDISFYNAVDGSHIHTFLDVSFSEALYPVFRILTLEPTAL
                     TICPA"
     exon            416..763
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /inference="alignment:Splign:2.1.0"
     exon            764..1045
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1246
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1267
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /inference="alignment:Splign:2.1.0"
     exon            1268..1294
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1321
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1348
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..3388
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3366..3371
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /note="hexamer: AATAAA"
     polyA_site      3388
                     /gene="BTN3A1"
                     /gene_synonym="BT3.1; BTF5; BTN3.1; CD277"
                     /note="major polyA site"
ORIGIN      
        1 attcctcacg atgacccgac agtctctgct ttctttttcc tttcttccag aaggagattt
       61 aaccatagta gaaagaatgg agaactatta actgcctttc ttctgtgggc tgtgattttc
      121 agaggggaat gctaagaggt gattttcaat gttgggactc aaaggtgaag acactgaagg
      181 acagaatttt tggcagagga aagatcttct tcggtcacca tacttgagtt agctctaggg
      241 aagtggaggt ttccatttgg aattctatag cttcttccag gtcatagtgt ctgcccccca
      301 ccttccagta tctcctgata tgcagcatga atgaaaatgg caagtttcct ggccttcctt
      361 ctgctcaact ttcgtgtctg cctccttttg cttcagctgc tcatgcctca ctcagctcag
      421 ttttctgtgc ttggaccctc tgggcccatc ctggccatgg tgggtgaaga cgctgatctg
      481 ccctgtcacc tgttcccgac catgagtgca gagaccatgg agctgaagtg ggtgagttcc
      541 agcctaaggc aggtggtgaa cgtgtatgca gatggaaagg aagtggaaga caggcagagt
      601 gcaccgtatc gagggagaac ttcgattctg cgggatggca tcactgcagg gaaggctgct
      661 ctccgaatac acaacgtcac agcctctgac agtggaaagt acttgtgtta tttccaagat
      721 ggtgacttct atgaaaaagc cctggtggag ctgaaggttg cagcactggg ttctgatctt
      781 cacgttgatg tgaagggtta caaggatgga gggatccatc tggagtgcag gtccactggc
      841 tggtaccccc aaccccaaat acagtggagc aacaacaagg gagagaacat cccgactgtg
      901 gaagcacctg tggttgcaga cggagtgggc ctgtatgcag tagcagcatc tgtgatcatg
      961 agaggcagct ctggggaggg tgtatcctgt accatcagaa gttccctcct cggcctggaa
     1021 aagacagcca gcatttccat cgcagacccc ttcttcagga gcgcccagag gtggatcgcc
     1081 gccctggcag ggaccctgcc tgtcttgctg ctgcttcttg ggggagccgg ttacttcctg
     1141 tggcaacagc aggaggaaaa aaagactcag ttcagaaaga aaaagagaga gcaagagttg
     1201 agagaaatgg catggagcac aatgaagcaa gaacaaagca caagagtgaa gctcctggag
     1261 gaactcagat ggagaagtat ccagtatgca tctcggggag agagacattc agcctataat
     1321 gaatggaaaa aggccctctt caagcctgcg gatgtgattc tggatccaaa aacagcaaac
     1381 cccatcctcc ttgtttctga ggaccagagg agtgtgcagc gtgccaagga gccccaggat
     1441 ctgccagaca accctgagag atttaattgg cattattgtg ttctcggctg tgagagcttc
     1501 atatcaggga gacattactg ggaggtggag gtaggggaca ggaaagagtg gcatataggg
     1561 gtgtgcagta agaatgtgca gagaaaaggc tgggtcaaaa tgacacctga gaatggattc
     1621 tggactatgg ggctgactga tgggaataag tatcggactc taactgagcc cagaaccaac
     1681 ctgaaacttc ctaagccccc taagaaagtg ggggtcttcc tggactatga gactggagat
     1741 atctcattct acaatgctgt ggatggatcg catattcata ctttcctgga cgtctccttc
     1801 tctgaggctc tatatcctgt tttcagaatt ttgaccttgg agcccacggc cctgactatt
     1861 tgtccagcgt gaaaagaaga agagagttcc tccaattctg accgagtgct gatcattccc
     1921 tagagacacc agtaaccccg ggcttagcta acgaaagtgg ggagcctcag gctgaagtaa
     1981 cttttctctg cttctccctg cccagctcag agctgagggc ctccccctcc acagcaacca
     2041 atcacaacca taaagctaca agcacgcact gaagcacttt actgatactc attcaattat
     2101 tcatatgaca gttgtttgag tttggtacca tcttattttc cccttataca gataaggaaa
     2161 ctggggtgca gaaaagtgaa ttgactacaa agtagacatg actagttaac aacacagctg
     2221 ggatctaaac agcaataact aacattaatg gagaacttaa aatgctctga gtgctgtgtt
     2281 atgagctttg gtggatgtca ctcctttaat cctcgcaaca ccctgtcggg tagtctcatt
     2341 tagcaagtat ggaagttgag gcagggcaac attaagcaac ttacataact catgcagtaa
     2401 tttctgcagt tgggagatgt tcagcttcag tccccggccc tatggccgtt cttttccacc
     2461 ctgtttcttc ccccatagga agaacccacc tgtagccctg aggttctttt cccaggatgg
     2521 ctccaggata aggatcactg taggtggttg tggagttgac acccctgttg actccttccc
     2581 agctgattgt cagagcctta gacccagcac gccttggatt agctctgcag agtgtcttgg
     2641 ttgagagaat aacctcaccg tacccacatg acacgtgatt tggaaagaga ctagaggcca
     2701 cacttgataa atcatgggga acagatgtgt tccacccaac aaatgtgata agtgatcatg
     2761 cagccagagc cagccttcct tcaatcaagg tttccaggca gagcaaatac cctagagatt
     2821 ctctgtgata taggaaattt ggatgaaggg agctagaaga aatacaggga tttttttttt
     2881 tttttaagat ggagtcttac tctgttgcta ggctggagtg cagtggtgcg atctcagctc
     2941 cctgcaacct ccacctcctg ggttcaaaca attctcctgc ctcagcctcc cgagtactgg
     3001 gaatataggt gcacgccacc acacccaaca aatttttgta cttttagtac agatgagggt
     3061 tcactatgtt ggccaggatg gtctcgatct cttgacctca tgatccaccc acctcggtct
     3121 cccaaagtgc tgggattaca ggcttgagcc accgggtgac cggcttacag ggatattttt
     3181 aatcccgtta tggactctgt ctccaggaga ggggtctatc cacccctgct cattggtgga
     3241 tgttaaacca atattccttt caactgctgc ctgctaggga aaaactactc ctcattatca
     3301 tcattattat tgctctccac tgtatcccct ctacctggca tgtgcttgtc aagttctagt
     3361 tgttcaataa atttgttaat aatgctga
//
