LOCUS       NM_001715               2215 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens BLK proto-oncogene, Src family tyrosine kinase (BLK),
            transcript variant 1, mRNA.
ACCESSION   NM_001715 NM_032657
VERSION     NM_001715.3
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 2215)
  AUTHORS   Zhou,C., Zhu,X., Liu,N., Dong,X., Zhang,X., Huang,H., Tang,Y.,
            Liu,S., Hu,M., Wang,M., Deng,X., Li,S., Zhang,R., Huang,Y., Lyu,H.,
            Xiao,S., Luo,S., Ali,D.W., Michalak,M., Chen,X.Z., Wang,Z. and
            Tang,J.
  TITLE     B-lymphoid tyrosine kinase-mediated FAM83A phosphorylation elevates
            pancreatic tumorigenesis through interacting with beta-catenin
  JOURNAL   Signal Transduct Target Ther 8 (1), 66 (2023)
   PUBMED   36797256
  REMARK    GeneRIF: B-lymphoid tyrosine kinase-mediated FAM83A phosphorylation
            elevates pancreatic tumorigenesis through interacting with
            beta-catenin.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2215)
  AUTHORS   Laver,T.W., Wakeling,M.N., Knox,O., Colclough,K., Wright,C.F.,
            Ellard,S., Hattersley,A.T., Weedon,M.N. and Patel,K.A.
  TITLE     Evaluation of Evidence for Pathogenicity Demonstrates That BLK,
            KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for
            MODY
  JOURNAL   Diabetes 71 (5), 1128-1136 (2022)
   PUBMED   35108381
  REMARK    GeneRIF: Evaluation of Evidence for Pathogenicity Demonstrates That
            BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing
            for MODY.
REFERENCE   3  (bases 1 to 2215)
  AUTHORS   Yin,B.W., Li,B., Mehmood,A., Yuan,C., Song,S., Guo,R.Y., Zhang,L.,
            Ma,T. and Guo,L.
  TITLE     BLK polymorphisms and expression level in neuromyelitis optica
            spectrum disorder
  JOURNAL   CNS Neurosci Ther 27 (12), 1549-1560 (2021)
   PUBMED   34637583
  REMARK    GeneRIF: BLK polymorphisms and expression level in neuromyelitis
            optica spectrum disorder.
REFERENCE   4  (bases 1 to 2215)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 2215)
  AUTHORS   Montufar-Robles,I., Lara-Garcia,S., Barbosa-Cobos,R.E.,
            Vargas-Alarcon,G., Hernandez-Molina,G., Fragoso,J.M.,
            Cabello-Gutierrez,C., Reyes-Cetina,I.L., Arenas-Silva,I.,
            Cruz-Mayor,K.J., Concha-Del Rio,L.E., De Anda-Turati,M.,
            Sanchez-Tlapalcoyoatl,A., Cheja-Kalb,R., Hubbe-Tena,C., Lima,G.,
            Mendoza-Rincon,J.F. and Ramirez-Bello,J.
  TITLE     BLK and BANK1 variants and interactions are associated with
            susceptibility for primary Sjogren's syndrome and with some
            clinical features
  JOURNAL   Cell Immunol 363, 104320 (2021)
   PUBMED   33756160
  REMARK    GeneRIF: BLK and BANK1 variants and interactions are associated
            with susceptibility for primary Sjogren's syndrome and with some
            clinical features.
REFERENCE   6  (bases 1 to 2215)
  AUTHORS   Saouaf,S.J., Kut,S.A., Fargnoli,J., Rowley,R.B., Bolen,J.B. and
            Mahajan,S.
  TITLE     Reconstitution of the B cell antigen receptor signaling components
            in COS cells
  JOURNAL   J Biol Chem 270 (45), 27072-27078 (1995)
   PUBMED   7592958
REFERENCE   7  (bases 1 to 2215)
  AUTHORS   Lin,Y.H., Shin,E.J., Campbell,M.J. and Niederhuber,J.E.
  TITLE     Transcription of the blk gene in human B lymphocytes is controlled
            by two promoters
  JOURNAL   J Biol Chem 270 (43), 25968-25975 (1995)
   PUBMED   7592787
REFERENCE   8  (bases 1 to 2215)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29792621
REFERENCE   9  (bases 1 to 2215)
  AUTHORS   Dymecki,S.M., Niederhuber,J.E. and Desiderio,S.V.
  TITLE     Specific expression of a tyrosine kinase gene, blk, in B lymphoid
            cells
  JOURNAL   Science 247 (4940), 332-336 (1990)
   PUBMED   2404338
REFERENCE   10 (bases 1 to 2215)
  AUTHORS   Azolov,V.V.
  TITLE     [Restoration of the function of bilateral hand grip at the expense
            of the fingers of the same hand]
  JOURNAL   Ortop Travmatol Protez (4), 60-65 (1977)
   PUBMED   876631
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ057058.1, BC018703.1,
            BC032413.1 and BC007371.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001715.2.
            
            Summary: This gene encodes a nonreceptor tyrosine-kinase of the src
            family of proto-oncogenes that are typically involved in cell
            proliferation and differentiation. The protein has a role in B-cell
            receptor signaling and B-cell development. The protein also
            stimulates insulin synthesis and secretion in response to glucose
            and enhances the expression of several pancreatic beta-cell
            transcription factors. [provided by RefSeq, Aug 2010].
            
            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 :: Z33998.1, SRR1163657.251503.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259089.9/ ENSP00000259089.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-160               BQ057058.1         376-535
            161-535             BC018703.1         400-774
            536-1048            BC032413.1         520-1032
            1049-2212           BC007371.2         987-2150
            2213-2215           BC032413.1         2197-2199
FEATURES             Location/Qualifiers
     source          1..2215
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..2215
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /note="BLK proto-oncogene, Src family tyrosine kinase"
                     /db_xref="GeneID:640"
                     /db_xref="HGNC:HGNC:1057"
                     /db_xref="MIM:191305"
     exon            1..205
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     exon            206..329
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     CDS             207..1724
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /EC_number="2.7.10.2"
                     /note="isoform 1 is encoded by transcript variant 1; BLK
                     nonreceptor tyrosine kinase; tyrosine-protein kinase Blk;
                     p55-Blk; b lymphocyte kinase; B lymphoid tyrosine kinase"
                     /codon_start=1
                     /product="tyrosine-protein kinase Blk isoform 1"
                     /protein_id="NP_001706.2"
                     /db_xref="CCDS:CCDS5982.1"
                     /db_xref="GeneID:640"
                     /db_xref="HGNC:HGNC:1057"
                     /db_xref="MIM:191305"
                     /translation="MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVF
                     NHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQMLKGEKLQVLKGTGDWWLARSLVT
                     GREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF
                     SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTL
                     PCVRPAPQNPWAQDEWEIPRQSLRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTM
                     SPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGCLLDFLKTDEGSRLSL
                     PRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCCKIADFGLARIIDSEYTAQ
                     EGAKFPIKWTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLER
                     GYRMPRPDTCPPELYRGVIAECWRSRPEERPTFEFLQSVLEDFYTATERQYELQP"
     exon            330..381
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     exon            382..475
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     exon            476..574
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     exon            575..678
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     exon            679..825
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     exon            826..978
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1158
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     exon            1159..1235
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     exon            1236..1386
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     exon            1387..1518
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     exon            1519..2215
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2195..2200
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /note="hexamer: AATAAA"
     polyA_site      2215
                     /gene="BLK"
                     /gene_synonym="MODY11"
                     /note="major polyA site"
ORIGIN      
        1 agaccggggg tgctgccacc tctgtctgct gccggcagaa agccacaagc catgaaaact
       61 gattgagatg agaagaattc atctgggact ggcttttgct ttaggatggt gttggaagtt
      121 gctcgttgtc gctaggagcc tgctccactg taagggtgtc aggatctgaa gagctatggt
      181 gaaacaccac tgaagcattg ccaaggatgg ggctggtaag tagcaaaaag ccggacaagg
      241 aaaagccgat caaagagaag gacaagggcc aatggagccc cctgaaggtc agcgcccaag
      301 acaaggacgc cccgccactg ccgcccctgg ttgtcttcaa ccaccttact cctccaccgc
      361 ccgatgaaca cctggatgaa gacaagcatt tcgtggtggc tctgtatgac tacaccgcta
      421 tgaatgatcg ggacctgcag atgctgaagg gggagaagct acaggtcctg aagggaactg
      481 gagactggtg gctggccagg tcactcgtca caggaagaga aggctatgtg cccagtaact
      541 ttgtggcccg agtggagagc ctggaaatgg aaaggtggtt ctttagatca cagggtcgga
      601 aggaggctga gaggcagctt cttgctccaa tcaacaaggc cggctccttt cttatcagag
      661 agagtgaaac caacaaaggt gccttctccc tgtctgtgaa ggatgtcacc acccaggggg
      721 agctgatcaa gcactataag atccgctgcc tggatgaagg gggctactac atctcccccc
      781 ggatcacctt cccctcgctc caggccctgg tgcagcacta ttctaagaag ggggatggtc
      841 tatgccagag gctgaccctg ccctgtgtgc gcccggcccc gcagaatccc tgggcccagg
      901 atgaatggga gatcccccgg cagtctctca ggctggtcag gaaactcggg tctggacaat
      961 tcggcgaagt ctggatgggt tactacaaaa acaacatgaa ggtggccatt aagacgctga
     1021 aggagggaac catgtctcca gaagcctttc tgggtgaggc caacgtgatg aaggctctgc
     1081 agcacgagcg gctggtccga ctctacgcag tggtcaccaa ggagcccatc tacattgtca
     1141 ccgagtacat ggccagagga tgcctgctgg atttcctgaa gacagatgaa gggagcagat
     1201 tgtcactccc aaggctgatt gacatgtcgg cgcagattgc tgaagggatg gcatacattg
     1261 agcgcatgaa ttccatccac cgcgacctgc gggcggccaa catcctggtg tctgaggcct
     1321 tgtgctgcaa aattgctgat tttggcttgg ctcgaatcat cgacagtgaa tacacggccc
     1381 aagagggggc caagttcccc atcaagtgga cagccccgga agccatccac ttcggggtct
     1441 tcaccatcaa agcagacgtg tggtcgtttg gagtcctcct gatggaagtt gtcacttatg
     1501 ggcgggtgcc atacccaggg atgagcaacc ccgaggtcat ccgcaacctg gagcgcggct
     1561 accgcatgcc gcgccccgac acctgcccgc ccgagctgta ccgcggcgtc atcgccgagt
     1621 gctggcgcag ccggcccgag gagcggccca ccttcgagtt cctgcagtcg gtgctggagg
     1681 acttctacac ggccaccgag cggcagtacg agctgcagcc ctagccggcc gcgcccgcct
     1741 gcgccccgtg cccacctctg cgcggacgac cccgacttcc gtgccatccc agacgggccg
     1801 cgaaggcggg gtgtcgcctg tgcccttttc tcagacccgg aatccagtgg gcagaggcag
     1861 cttcgcaggg ggtccccgga cggactcctt caccgactgc acccccgggc gagttacgcg
     1921 gcctctctgt gccgcttcat ttgtagaggg ctgtaacagt gacctcgcac ggtcatccgg
     1981 agtactaagc cccagtaagg tgttcaggac tggtaagcga ctgtcatcaa gtaaggcccc
     2041 cgtgctgggc accccccgtg ctggccgcgt ccccgcctct gcgccctgcg tggaccccgc
     2101 cctgccccgc tacagaagcc agactgggtc ccgcggacgc cagcaggggc agccccagcc
     2161 taggctgcgc tccagcactg cggggctttt ctgcaataaa gtcacgagcg ttcga
//
