LOCUS       NM_000061               2575 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens Bruton tyrosine kinase (BTK), transcript variant 1,
            mRNA.
ACCESSION   NM_000061
VERSION     NM_000061.3
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 2575)
  AUTHORS   Ding,Q., Zhou,Y., Feng,Y., Sun,L. and Zhang,T.
  TITLE     Bruton's tyrosine kinase: A promising target for treating systemic
            lupus erythematosus
  JOURNAL   Int Immunopharmacol 142 (Pt A), 113040 (2024)
   PUBMED   39216117
  REMARK    GeneRIF: Bruton's tyrosine kinase: A promising target for treating
            systemic lupus erythematosus.
            Review article
REFERENCE   2  (bases 1 to 2575)
  AUTHORS   Aslan,B., Manyam,G., Iles,L.R., Tantawy,S.I., Desikan,S.P.,
            Wierda,W.G. and Gandhi,V.
  TITLE     Transcriptomic and proteomic differences in BTK-WT and BTK-mutated
            CLL and their changes during therapy with pirtobrutinib
  JOURNAL   Blood Adv 8 (17), 4487-4501 (2024)
   PUBMED   38968154
  REMARK    GeneRIF: Transcriptomic and proteomic differences in BTK-WT and
            BTK-mutated CLL and their changes during therapy with
            pirtobrutinib.
REFERENCE   3  (bases 1 to 2575)
  AUTHORS   Benoit,R.Y., Zagrodnik,J.L., Carew,S.J. and Moore,C.S.
  TITLE     Bruton Tyrosine Kinase Inhibition Decreases Inflammation and
            Differentially Impacts Phagocytosis and Cellular Metabolism in
            Mouse- and Human-derived Myeloid Cells
  JOURNAL   Immunohorizons 8 (9), 652-667 (2024)
   PUBMED   39259208
  REMARK    GeneRIF: Bruton Tyrosine Kinase Inhibition Decreases Inflammation
            and Differentially Impacts Phagocytosis and Cellular Metabolism in
            Mouse- and Human-derived Myeloid Cells.
REFERENCE   4  (bases 1 to 2575)
  AUTHORS   Sun,Y. and Han,Y.
  TITLE     GNA15 facilitates the malignant development of thyroid carcinoma
            cells via the BTK-mediated MAPK signaling pathway
  JOURNAL   Histol Histopathol 39 (9), 1217-1227 (2024)
   PUBMED   38333922
  REMARK    GeneRIF: GNA15 facilitates the malignant development of thyroid
            carcinoma cells via the BTK-mediated MAPK signaling pathway.
REFERENCE   5  (bases 1 to 2575)
  AUTHORS   Wong,R.L., Choi,M.Y., Wang,H.Y. and Kipps,T.J.
  TITLE     Mutation in Bruton Tyrosine Kinase (BTK) A428D confers resistance
            To BTK-degrader therapy in chronic lymphocytic leukemia
  JOURNAL   Leukemia 38 (8), 1818-1821 (2024)
   PUBMED   39048721
  REMARK    GeneRIF: Mutation in Bruton Tyrosine Kinase (BTK) A428D confers
            resistance To BTK-degrader therapy in chronic lymphocytic leukemia.
REFERENCE   6  (bases 1 to 2575)
  AUTHORS   Yao,L., Kawakami,Y. and Kawakami,T.
  TITLE     The pleckstrin homology domain of Bruton tyrosine kinase interacts
            with protein kinase C
  JOURNAL   Proc Natl Acad Sci U S A 91 (19), 9175-9179 (1994)
   PUBMED   7522330
REFERENCE   7  (bases 1 to 2575)
  AUTHORS   Kawakami,Y., Yao,L., Miura,T., Tsukada,S., Witte,O.N. and
            Kawakami,T.
  TITLE     Tyrosine phosphorylation and activation of Bruton tyrosine kinase
            upon Fc epsilon RI cross-linking
  JOURNAL   Mol Cell Biol 14 (8), 5108-5113 (1994)
   PUBMED   7518558
REFERENCE   8  (bases 1 to 2575)
  AUTHORS   Smith,C.I.E. and Berglof,A.
  TITLE     X-Linked Agammaglobulinemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301626
REFERENCE   9  (bases 1 to 2575)
  AUTHORS   Timmers,E., Kenter,M., Thompson,A., Kraakman,M.E., Berman,J.E.,
            Alt,F.W. and Schuurman,R.K.
  TITLE     Diversity of immunoglobulin heavy chain gene segment rearrangement
            in B lymphoblastoid cell lines from X-linked agammaglobulinemia
            patients
  JOURNAL   Eur J Immunol 21 (10), 2355-2363 (1991)
   PUBMED   1915549
REFERENCE   10 (bases 1 to 2575)
  AUTHORS   Mensink,E.J., Thompson,A., Schot,J.D., Kraakman,M.E., Sandkuyl,L.A.
            and Schuurman,R.K.
  TITLE     Genetic heterogeneity in X-linked agammaglobulinemia complicates
            carrier detection and prenatal diagnosis
  JOURNAL   Clin Genet 31 (2), 91-96 (1987)
   PUBMED   2881637
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA619542.1, BC109079.1,
            DB636737.1 and AK057105.1.
            
            On Dec 4, 2019 this sequence version replaced NM_000061.2.
            
            Summary: The protein encoded by this gene plays a crucial role in
            B-cell development. Mutations in this gene cause X-linked
            agammaglobulinemia type 1, which is an immunodeficiency
            characterized by the failure to produce mature B lymphocytes, and
            associated with a failure of Ig heavy chain rearrangement.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Dec 2013].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            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 :: AK314382.1, BC109079.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308731.8/ ENSP00000308176.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-521               DA619542.1         34-554
            522-2255            BC109079.1         487-2220
            2256-2572           DB636737.1         338-654
            2573-2575           AK057105.1         2197-2199
FEATURES             Location/Qualifiers
     source          1..2575
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22.1"
     gene            1..2575
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="Bruton tyrosine kinase"
                     /db_xref="GeneID:695"
                     /db_xref="HGNC:HGNC:1133"
                     /db_xref="MIM:300300"
     exon            1..130
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            131..301
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     CDS             161..2140
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /EC_number="2.7.10.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     B-cell progenitor kinase; Bruton's tyrosine kinase;
                     dominant-negative kinase-deficient Brutons tyrosine
                     kinase; agammaglobulinaemia tyrosine kinase; Bruton
                     agammaglobulinemia tyrosine kinase"
                     /codon_start=1
                     /product="tyrosine-protein kinase BTK isoform 1"
                     /protein_id="NP_000052.1"
                     /db_xref="CCDS:CCDS14482.1"
                     /db_xref="GeneID:695"
                     /db_xref="HGNC:HGNC:1133"
                     /db_xref="MIM:300300"
                     /translation="MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDF
                     ERGRRGSKKGSIDVEKITCVETVVPEKNPPPERQIPRRGEESSEMEQISIIERFPYPF
                     QVVYDEGPLYVFSPTEELRKRWIHQLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAK
                     NAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKK
                     VVALYDYMPMNANDLQLRKGDEYFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSI
                     EMYEWYSKHMTRSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHY
                     VVCSTPQSQYYLAEKHLFSTIPELINYHQHNSAGLISRLKYPVSQQNKNAPSTAGLGY
                     GSWEIDPKDLTFLKELGTGQFGVVKYGKWRGQYDVAIKMIKEGSMSEDEFIEEAKVMM
                     NLSHEKLVQLYGVCTKQRPIFIITEYMANGCLLNYLREMRHRFQTQQLLEMCKDVCEA
                     MEYLESKQFLHRDLAARNCLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFPVRWSPP
                     EVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYERFTNSETAEHIAQGLRLYRPHLASE
                     KVYTIMYSCWHEKADERPTFKILLSNILDVMDEES"
     exon            302..400
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            401..469
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            470..551
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            552..680
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            681..748
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            749..936
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            937..999
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1054
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1134
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1262
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            1263..1337
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            1338..1509
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            1510..1726
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            1727..1791
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            1792..1910
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            1911..2068
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     exon            2069..2575
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2551..2556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="hexamer: AATAAA"
     polyA_site      2575
                     /gene="BTK"
                     /gene_synonym="AGMX1; AT; ATK; BPK; IGHD3; IMD1; PSCTK1;
                     XLA"
                     /note="major polyA site"
ORIGIN      
        1 agactgtcct tcctctctgg actgtaagaa tatgtctcca gggccagtgt ctgctgcgat
       61 cgagtcccac cttccaagtc ctggcatctc aatgcatctg ggaagctacc tgcattaagt
      121 caggactgag cacacaggtg aactccagaa agaagaagct atggccgcag tgattctgga
      181 gagcatcttt ctgaagcgat cccaacagaa aaagaaaaca tcacctctaa acttcaagaa
      241 gcgcctgttt ctcttgaccg tgcacaaact ctcctactat gagtatgact ttgaacgtgg
      301 gagaagaggc agtaagaagg gttcaataga tgttgagaag atcacttgtg ttgaaacagt
      361 ggttcctgaa aaaaatcctc ctccagaaag acagattccg agaagaggtg aagagtccag
      421 tgaaatggag caaatttcaa tcattgaaag gttcccttat cccttccagg ttgtatatga
      481 tgaagggcct ctctacgtct tctccccaac tgaagaacta aggaagcggt ggattcacca
      541 gctcaaaaac gtaatccggt acaacagtga tctggttcag aaatatcacc cttgcttctg
      601 gatcgatggg cagtatctct gctgctctca gacagccaaa aatgctatgg gctgccaaat
      661 tttggagaac aggaatggaa gcttaaaacc tgggagttct caccggaaga caaaaaagcc
      721 tcttccccca acgcctgagg aggaccagat cttgaaaaag ccactaccgc ctgagccagc
      781 agcagcacca gtctccacaa gtgagctgaa aaaggttgtg gccctttatg attacatgcc
      841 aatgaatgca aatgatctac agctgcggaa gggtgatgaa tattttatct tggaggaaag
      901 caacttacca tggtggagag cacgagataa aaatgggcag gaaggctaca ttcctagtaa
      961 ctatgtcact gaagcagaag actccataga aatgtatgag tggtattcca aacacatgac
     1021 tcggagtcag gctgagcaac tgctaaagca agaggggaaa gaaggaggtt tcattgtcag
     1081 agactccagc aaagctggca aatatacagt gtctgtgttt gctaaatcca caggggaccc
     1141 tcaaggggtg atacgtcatt atgttgtgtg ttccacacct cagagccagt attacctggc
     1201 tgagaagcac cttttcagca ccatccctga gctcattaac taccatcagc acaactctgc
     1261 aggactcata tccaggctca aatatccagt gtctcaacaa aacaagaatg caccttccac
     1321 tgcaggcctg ggatacggat catgggaaat tgatccaaag gacctgacct tcttgaagga
     1381 gctggggact ggacaatttg gggtagtgaa gtatgggaaa tggagaggcc agtacgacgt
     1441 ggccatcaag atgatcaaag aaggctccat gtctgaagat gaattcattg aagaagccaa
     1501 agtcatgatg aatctttccc atgagaagct ggtgcagttg tatggcgtct gcaccaagca
     1561 gcgccccatc ttcatcatca ctgagtacat ggccaatggc tgcctcctga actacctgag
     1621 ggagatgcgc caccgcttcc agactcagca gctgctagag atgtgcaagg atgtctgtga
     1681 agccatggaa tacctggagt caaagcagtt ccttcaccga gacctggcag ctcgaaactg
     1741 tttggtaaac gatcaaggag ttgttaaagt atctgatttc ggcctgtcca ggtatgtcct
     1801 ggatgatgaa tacacaagct cagtaggctc caaatttcca gtccggtggt ccccaccgga
     1861 agtcctgatg tatagcaagt tcagcagcaa atctgacatt tgggcttttg gggttttgat
     1921 gtgggaaatt tactccctgg ggaagatgcc atatgagaga tttactaaca gtgagactgc
     1981 tgaacacatt gcccaaggcc tacgtctcta caggcctcat ctggcttcag agaaggtata
     2041 taccatcatg tacagttgct ggcatgagaa agcagatgag cgtcccactt tcaaaattct
     2101 tctgagcaat attctagatg tcatggatga agaatcctga gctcgccaat aagcttcttg
     2161 gttctacttc tcttctccac aagccccaat ttcactttct cagaggaaat cccaagctta
     2221 ggagccctgg agcctttgtg ctcccactca atacaaaaag gcccctctct acatctggga
     2281 atgcacctct tctttgattc cctgggatag tggcttctga gcaaaggcca agaaattatt
     2341 gtgcctgaaa tttcccgaga gaattaagac agactgaatt tgcgatgaaa atatttttta
     2401 ggagggagga tgtaaatagc cgcacaaagg ggtccaacag ctctttgagt aggcatttgg
     2461 tagagcttgg gggtgtgtgt gtgggggtgg accgaatttg gcaagaatga aatggtgtca
     2521 taaagatggg aggggagggt gttttgataa aataaaatta ctagaaagct tgaaa
//
