LOCUS       NM_001732               2945 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens butyrophilin subfamily 1 member A1 (BTN1A1), mRNA.
ACCESSION   NM_001732
VERSION     NM_001732.3
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 2945)
  AUTHORS   Kim,Y.S., Lee,S.H., Park,A.H., Wu,C., Hong,B.K., Jung,H., Lin,S.H.
            and Yoo,S.S.
  TITLE     BTN1A1 is a novel immune checkpoint mutually exclusive to PD-L1
  JOURNAL   J Immunother Cancer 12 (3), e008303 (2024)
   PUBMED   38485289
  REMARK    GeneRIF: BTN1A1 is a novel immune checkpoint mutually exclusive to
            PD-L1.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2945)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2945)
  AUTHORS   Rietveld,C.A., Esko,T., Davies,G., Pers,T.H., Turley,P.,
            Benyamin,B., Chabris,C.F., Emilsson,V., Johnson,A.D., Lee,J.J., de
            Leeuw,C., Marioni,R.E., Medland,S.E., Miller,M.B., Rostapshova,O.,
            van der Lee,S.J., Vinkhuyzen,A.A., Amin,N., Conley,D.,
            Derringer,J., van Duijn,C.M., Fehrmann,R., Franke,L., Glaeser,E.L.,
            Hansell,N.K., Hayward,C., Iacono,W.G., Ibrahim-Verbaas,C.,
            Jaddoe,V., Karjalainen,J., Laibson,D., Lichtenstein,P.,
            Liewald,D.C., Magnusson,P.K., Martin,N.G., McGue,M., McMahon,G.,
            Pedersen,N.L., Pinker,S., Porteous,D.J., Posthuma,D.,
            Rivadeneira,F., Smith,B.H., Starr,J.M., Tiemeier,H., Timpson,N.J.,
            Trzaskowski,M., Uitterlinden,A.G., Verhulst,F.C., Ward,M.E.,
            Wright,M.J., Davey Smith,G., Deary,I.J., Johannesson,M., Plomin,R.,
            Visscher,P.M., Benjamin,D.J., Cesarini,D. and Koellinger,P.D.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. doi:
            10.1073/pnas.1424631112.. PMID: 25572966]
REFERENCE   4  (bases 1 to 2945)
  AUTHORS   Rietveld,C.A., Medland,S.E., Derringer,J., Yang,J., Esko,T.,
            Martin,N.W., Westra,H.J., Shakhbazov,K., Abdellaoui,A., Agrawal,A.,
            Albrecht,E., Alizadeh,B.Z., Amin,N., Barnard,J., Baumeister,S.E.,
            Benke,K.S., Bielak,L.F., Boatman,J.A., Boyle,P.A., Davies,G., de
            Leeuw,C., Eklund,N., Evans,D.S., Ferhmann,R., Fischer,K.,
            Gieger,C., Gjessing,H.K., Hagg,S., Harris,J.R., Hayward,C.,
            Holzapfel,C., Ibrahim-Verbaas,C.A., Ingelsson,E., Jacobsson,B.,
            Joshi,P.K., Jugessur,A., Kaakinen,M., Kanoni,S., Karjalainen,J.,
            Kolcic,I., Kristiansson,K., Kutalik,Z., Lahti,J., Lee,S.H., Lin,P.,
            Lind,P.A., Liu,Y., Lohman,K., Loitfelder,M., McMahon,G.,
            Vidal,P.M., Meirelles,O., Milani,L., Myhre,R., Nuotio,M.L.,
            Oldmeadow,C.J., Petrovic,K.E., Peyrot,W.J., Polasek,O., Quaye,L.,
            Reinmaa,E., Rice,J.P., Rizzi,T.S., Schmidt,H., Schmidt,R.,
            Smith,A.V., Smith,J.A., Tanaka,T., Terracciano,A., van der
            Loos,M.J., Vitart,V., Volzke,H., Wellmann,J., Yu,L., Zhao,W.,
            Allik,J., Attia,J.R., Bandinelli,S., Bastardot,F., Beauchamp,J.,
            Bennett,D.A., Berger,K., Bierut,L.J., Boomsma,D.I., Bultmann,U.,
            Campbell,H., Chabris,C.F., Cherkas,L., Chung,M.K., Cucca,F., de
            Andrade,M., De Jager,P.L., De Neve,J.E., Deary,I.J.,
            Dedoussis,G.V., Deloukas,P., Dimitriou,M., Eiriksdottir,G.,
            Elderson,M.F., Eriksson,J.G., Evans,D.M., Faul,J.D., Ferrucci,L.,
            Garcia,M.E., Gronberg,H., Guethnason,V., Hall,P., Harris,J.M.,
            Harris,T.B., Hastie,N.D., Heath,A.C., Hernandez,D.G., Hoffmann,W.,
            Hofman,A., Holle,R., Holliday,E.G., Hottenga,J.J., Iacono,W.G.,
            Illig,T., Jarvelin,M.R., Kahonen,M., Kaprio,J., Kirkpatrick,R.M.,
            Kowgier,M., Latvala,A., Launer,L.J., Lawlor,D.A., Lehtimaki,T.,
            Li,J., Lichtenstein,P., Lichtner,P., Liewald,D.C., Madden,P.A.,
            Magnusson,P.K., Makinen,T.E., Masala,M., McGue,M., Metspalu,A.,
            Mielck,A., Miller,M.B., Montgomery,G.W., Mukherjee,S., Nyholt,D.R.,
            Oostra,B.A., Palmer,L.J., Palotie,A., Penninx,B.W., Perola,M.,
            Peyser,P.A., Preisig,M., Raikkonen,K., Raitakari,O.T., Realo,A.,
            Ring,S.M., Ripatti,S., Rivadeneira,F., Rudan,I., Rustichini,A.,
            Salomaa,V., Sarin,A.P., Schlessinger,D., Scott,R.J., Snieder,H., St
            Pourcain,B., Starr,J.M., Sul,J.H., Surakka,I., Svento,R.,
            Teumer,A., Tiemeier,H., van Rooij,F.J., Van Wagoner,D.R.,
            Vartiainen,E., Viikari,J., Vollenweider,P., Vonk,J.M., Waeber,G.,
            Weir,D.R., Wichmann,H.E., Widen,E., Willemsen,G., Wilson,J.F.,
            Wright,A.F., Conley,D., Davey-Smith,G., Franke,L., Groenen,P.J.,
            Hofman,A., Johannesson,M., Kardia,S.L., Krueger,R.F., Laibson,D.,
            Martin,N.G., Meyer,M.N., Posthuma,D., Thurik,A.R., Timpson,N.J.,
            Uitterlinden,A.G., van Duijn,C.M., Visscher,P.M., Benjamin,D.J.,
            Cesarini,D. and Koellinger,P.D.
  CONSRTM   LifeLines Cohort Study
  TITLE     GWAS of 126,559 individuals identifies genetic variants associated
            with educational attainment
  JOURNAL   Science 340 (6139), 1467-1471 (2013)
   PUBMED   23722424
REFERENCE   5  (bases 1 to 2945)
  AUTHORS   LaRocca,J., Pietruska,J. and Hixon,M.
  TITLE     Akt1 is essential for postnatal mammary gland development,
            function, and the expression of Btn1a1
  JOURNAL   PLoS One 6 (9), e24432 (2011)
   PUBMED   21915327
  REMARK    GeneRIF: Data illustrated the importance of Akt1 in mammary
            epithelial cell proliferation, as well as in the regulation of
            Btn1a1 and subsequent expression of ss-casein.
REFERENCE   6  (bases 1 to 2945)
  AUTHORS   Taylor,M.R., Peterson,J.A., Ceriani,R.L. and Couto,J.R.
  TITLE     Cloning and sequence analysis of human butyrophilin reveals a
            potential receptor function
  JOURNAL   Biochim Biophys Acta 1306 (1), 1-4 (1996)
   PUBMED   8611614
REFERENCE   7  (bases 1 to 2945)
  AUTHORS   Sato,T., Takio,K., Kobata,A., Greenwalt,D.E. and Furukawa,K.
  TITLE     Site-specific glycosylation of bovine butyrophilin
  JOURNAL   J Biochem 117 (1), 147-157 (1995)
   PUBMED   7775382
REFERENCE   8  (bases 1 to 2945)
  AUTHORS   Mather,I.H. and Jack,L.J.
  TITLE     A review of the molecular and cellular biology of butyrophilin, the
            major protein of bovine milk fat globule membrane
  JOURNAL   J Dairy Sci 76 (12), 3832-3850 (1993)
   PUBMED   8132890
  REMARK    Review article
REFERENCE   9  (bases 1 to 2945)
  AUTHORS   Vernet,C., Boretto,J., Mattei,M.G., Takahashi,M., Jack,L.J.,
            Mather,I.H., Rouquier,S. and Pontarotti,P.
  TITLE     Evolutionary study of multigenic families mapping close to the
            human MHC class I region
  JOURNAL   J Mol Evol 37 (6), 600-612 (1993)
   PUBMED   8114113
REFERENCE   10 (bases 1 to 2945)
  AUTHORS   Heid,H.W., Winter,S., Bruder,G., Keenan,T.W. and Jarasch,E.D.
  TITLE     Butyrophilin, an apical plasma membrane-associated glycoprotein
            characteristic of lactating mammary glands of diverse species
  JOURNAL   Biochim Biophys Acta 728 (2), 228-238 (1983)
   PUBMED   6830779
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL121936.17, U39576.1, BC096312.3 and AW977526.1.
            
            On Jul 11, 2019 this sequence version replaced NM_001732.2.
            
            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 (MHC) class I region of 6p and may have
            arisen relatively recently in evolution by the shuffling of exons
            between 2 ancestral gene families [provided by RefSeq, Jul 2008].
            
            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 :: U39576.1, SRR14038191.1364919.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN02400288, SAMN02400308
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000684113.1/ ENSP00000507193.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                AL121936.17        37668-37707
            41-73               U39576.1           1-33
            74-74               AL121936.17        38612-38612
            75-93               U39576.1           34-52
            94-1336             BC096312.3         1-1243
            1337-1337           AL121936.17        46182-46182
            1338-2455           BC096312.3         1245-2362
            2456-2941           AW977526.1         1-486               c
            2942-2945           AL121936.17        47787-47790
FEATURES             Location/Qualifiers
     source          1..2945
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.2"
     gene            1..2945
                     /gene="BTN1A1"
                     /gene_synonym="BT; BTN; BTN1"
                     /note="butyrophilin subfamily 1 member A1"
                     /db_xref="GeneID:696"
                     /db_xref="HGNC:HGNC:1135"
                     /db_xref="MIM:601610"
     exon            1..56
                     /gene="BTN1A1"
                     /gene_synonym="BT; BTN; BTN1"
                     /inference="alignment:Splign:2.1.0"
     exon            57..192
                     /gene="BTN1A1"
                     /gene_synonym="BT; BTN; BTN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..1694
                     /gene="BTN1A1"
                     /gene_synonym="BT; BTN; BTN1"
                     /note="bK14H9.2 (butyrophilin, subfamily 1, member A1)"
                     /codon_start=1
                     /product="butyrophilin subfamily 1 member A1 precursor"
                     /protein_id="NP_001723.2"
                     /db_xref="CCDS:CCDS4614.1"
                     /db_xref="GeneID:696"
                     /db_xref="HGNC:HGNC:1135"
                     /db_xref="MIM:601610"
                     /translation="MAVFPSSGLPRCLLTLILLQLPKLDSAPFDVIGPPEPILAVVGE
                     DAELPCRLSPNASAEHLELRWFRKKVSPAVLVHRDGREQEAEQMPEYRGRATLVQDGI
                     AKGRVALRIRGVRVSDDGEYTCFFREDGSYEEALVHLKVAALGSDPHISMQVQENGEI
                     CLECTSVGWYPEPQVQWRTSKGEKFPSTSESRNPDEEGLFTVAASVIIRDTSAKNVSC
                     YIQNLLLGQEKKVEISIPASSLPRLTPWIVAVAVILMVLGLLTIGSIFFTWRLYNERP
                     RERRNEFSSKERLLEELKWKKATLHAVDVTLDPDTAHPHLFLYEDSKSVRLEDSRQKL
                     PEKTERFDSWPCVLGRETFTSGRHYWEVEVGDRTDWAIGVCRENVMKKGFDPMTPENG
                     FWAVELYGNGYWALTPLRTPLPLAGPPRRVGIFLDYESGDISFYNMNDGSDIYTFSNV
                     TFSGPLRPFFCLWSSGKKPLTICPIADGPERVTVIANAQDLSKEIPLSPMGEDSAPRD
                     ADTLHSKLIPTQPSQGAP"
     exon            193..540
                     /gene="BTN1A1"
                     /gene_synonym="BT; BTN; BTN1"
                     /inference="alignment:Splign:2.1.0"
     exon            541..822
                     /gene="BTN1A1"
                     /gene_synonym="BT; BTN; BTN1"
                     /inference="alignment:Splign:2.1.0"
     exon            823..972
                     /gene="BTN1A1"
                     /gene_synonym="BT; BTN; BTN1"
                     /inference="alignment:Splign:2.1.0"
     exon            973..993
                     /gene="BTN1A1"
                     /gene_synonym="BT; BTN; BTN1"
                     /inference="alignment:Splign:2.1.0"
     exon            994..1020
                     /gene="BTN1A1"
                     /gene_synonym="BT; BTN; BTN1"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..2945
                     /gene="BTN1A1"
                     /gene_synonym="BT; BTN; BTN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2922..2927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTN1A1"
                     /gene_synonym="BT; BTN; BTN1"
                     /note="hexamer: AATAAG"
     polyA_site      2945
                     /gene="BTN1A1"
                     /gene_synonym="BT; BTN; BTN1"
                     /note="major polyA site"
ORIGIN      
        1 agctttctca cttggtagca gtggcctctt gtgccttttt ctccaagatc acccaggctg
       61 aagctcctga ggggactcac atcagttatc ttgctgctcc agaagggtgg gagatggcag
      121 ttttcccaag ctccggtctc cccagatgtc tgctcaccct cattctcctc cagctgccca
      181 aactggattc agctcccttt gacgtgattg gacccccgga gcccatcctg gccgttgtgg
      241 gtgaggacgc cgagctgccc tgtcgcctgt ctccgaacgc gagcgccgag cacttggagc
      301 tacgctggtt ccgaaagaag gtttcgccgg ccgtgctggt gcatagggac gggcgcgagc
      361 aggaagccga gcagatgccc gagtaccgcg ggcgggcgac gctggtccag gacggcatcg
      421 ccaaggggcg cgtggccttg aggatccgtg gcgtcagagt ctctgacgac ggggagtaca
      481 cgtgcttttt cagggaggat ggaagctacg aagaagccct ggtgcatctg aaggtggctg
      541 ctctgggctc tgaccctcac atcagtatgc aagttcaaga gaatggagaa atctgtctgg
      601 agtgcacctc agtgggatgg tacccagagc cccaggtgca gtggagaact tccaagggag
      661 agaagtttcc atctacatca gagtccagga atcctgatga agaaggtttg ttcactgtgg
      721 ctgcttcagt gatcatcaga gacacttctg cgaaaaatgt gtcctgctac atccagaatc
      781 tccttcttgg ccaggagaag aaagtagaaa tatccatacc agcttcctcc ctcccaaggc
      841 tgactccctg gatagtggct gtggctgtca tcctgatggt tctaggactt ctcaccattg
      901 ggtccatatt tttcacttgg agactataca acgaaagacc cagagagagg aggaatgaat
      961 tcagctctaa agagagactc ctggaagaac tcaaatggaa aaaggctacc ttgcatgcag
     1021 ttgatgtgac tctggaccca gacacagctc atccccacct ctttctttat gaggattcaa
     1081 aatctgttcg actggaagat tcacgtcaga aactgcctga gaaaacagag agatttgact
     1141 cctggccctg tgtgttgggc cgtgagacct tcacctcagg aaggcattac tgggaggtgg
     1201 aggtgggaga caggactgac tgggcaatcg gcgtgtgtag ggagaatgtg atgaagaaag
     1261 gatttgaccc catgactcct gagaatgggt tctgggctgt agagttgtat ggaaatgggt
     1321 actgggccct cactcctctc cggacccctc tcccattggc agggccccca cgccgggttg
     1381 ggattttcct agactatgaa tcaggagaca tctccttcta caacatgaat gatggatctg
     1441 atatctatac tttctccaat gtcactttct ctggccccct ccggcccttc ttttgcctat
     1501 ggtctagcgg taaaaagccc ctgaccatct gcccaattgc tgatgggcct gagagggtca
     1561 cagtcattgc taatgcccag gacctttcta aggagatccc attgtccccc atgggggagg
     1621 actctgcccc tagggatgca gacactctcc attctaagct aatccctacc caacccagcc
     1681 aaggggcacc ttaaggaata tctcagctca tctgttttcc tttcctctaa cccctctcct
     1741 ccatagcctt ctgaggcttc acctgctagc tttacccagt ctgtttcttc ctgttgggtg
     1801 gcaattaatt aatcctgtga aggttacatt gctgctgcta gagagggtgg ggattgcacc
     1861 ttccaaatct gtttctgtac caatatttgg gggatggagg ggtgactcaa actgcttcta
     1921 gtgttctcct aatcccttaa gactagaacc tataggaaac tacttggagc aaactcaaag
     1981 gacagattag ggatcgagat tgggtcaggt tagcatgggg ttgtggttga aatatcttgg
     2041 tatccaggat aagggtatgt ggaaaaacag gctttaggca agtggaaaat tcaaaatgtg
     2101 ctgtgaaagg acaatctcag gctgaaatcc cataaaggaa cttggaggga atattatgat
     2161 ggagggaagt gaggtgaatc caggcacatg atgaacacct ggctcatcca tagagttttc
     2221 acagcctata tcgcaaattt tctaagccac gtcctatagg acagaggaga ctggccccac
     2281 ttctatgggt ctgagctgtg gaaaagggag agcagagagg aactgagatg agcagggatg
     2341 aagggtcagg cagaaagcgt gatagaggag agaatttttg acaaaactca aaagttgttt
     2401 gcacagctgt tctttgtacc ctgttccttt ctctgcgccc tcctgtttct cccttgcctg
     2461 gaagtcattc caccctcaat ttgttgatcc acaagtttcc agttgtcctc ttctttttgt
     2521 tatagcatct ctctatttca aagacattcc tagaagtcat ccttcagtga tatcaccact
     2581 tgctcagtca ccatctcaac cttatgtcac ctcagccctc atctcaatgc ccaaacccct
     2641 tacacacacc ttcagttagc ttcaactgcc tccgtttcca cactgtgcac ctttcacttt
     2701 ccctacccag ctttcctaca tgctgcctct cctcagggtc ccctgaatgc tgcatcattg
     2761 tgttcagtgc agctggactg attgcacctg tgtatttgcc cctgagcact ttcctttaca
     2821 catgtggctt gtcttgccaa tagactccag gcttatacct tccatttcca tcgtattctc
     2881 cagtttccag gatagacgtt gctcatcgtc tttacctaat aaataagttt gtctgattgc
     2941 tgaaa
//
