LOCUS       NM_003921               2833 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens BCL10 immune signaling adaptor (BCL10), transcript
            variant 1, mRNA.
ACCESSION   NM_003921
VERSION     NM_003921.5
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 2833)
  AUTHORS   Kowluru,A.
  TITLE     Regulatory roles of CARD9-BCL10-Rac1 (CBR) signalome in islet
            beta-cell function in health and metabolic stress: Is there room
            for MALT1?
  JOURNAL   Biochem Pharmacol 218, 115889 (2023)
   PUBMED   37991197
  REMARK    GeneRIF: Regulatory roles of CARD9-BCL10-Rac1 (CBR) signalome in
            islet beta-cell function in health and metabolic stress: Is there
            room for MALT1?
            Review article
REFERENCE   2  (bases 1 to 2833)
  AUTHORS   Plaisance,I., Chouvardas,P., Sun,Y., Nemir,M., Aghagolzadeh,P.,
            Aminfar,F., Shen,S., Shim,W.J., Rochais,F., Johnson,R., Palpant,N.
            and Pedrazzini,T.
  TITLE     A transposable element into the human long noncoding RNA CARMEN is
            a switch for cardiac precursor cell specification
  JOURNAL   Cardiovasc Res 119 (6), 1361-1376 (2023)
   PUBMED   36537036
  REMARK    GeneRIF: A transposable element into the human long noncoding RNA
            CARMEN is a switch for cardiac precursor cell specification.
REFERENCE   3  (bases 1 to 2833)
  AUTHORS   Xia,M., David,L., Teater,M., Gutierrez,J., Wang,X., Meydan,C.,
            Lytle,A., Slack,G.W., Scott,D.W., Morin,R.D., Onder,O.,
            Elenitoba-Johnson,K.S.J., Zamponi,N., Cerchietti,L., Lu,T.,
            Philippar,U., Fontan,L., Wu,H. and Melnick,A.M.
  TITLE     BCL10 Mutations Define Distinct Dependencies Guiding Precision
            Therapy for DLBCL
  JOURNAL   Cancer Discov 12 (8), 1922-1941 (2022)
   PUBMED   35658124
  REMARK    GeneRIF: BCL10 Mutations Define Distinct Dependencies Guiding
            Precision Therapy for DLBCL.
REFERENCE   4  (bases 1 to 2833)
  AUTHORS   Al-Tamemi,S., Alhinai,Z., Al-Rahbi,N., Al-Abdawani,R.,
            Al-Yazidi,L., Al-Shekaili,J., Al-Kindi,M. and Al-Maawali,A.
  TITLE     BCL10 loss-of-function novel mutation leading to atypical severe
            combined immunodeficiency
  JOURNAL   Clin Immunol 241, 109067 (2022)
   PUBMED   35750252
  REMARK    GeneRIF: BCL10 loss-of-function novel mutation leading to atypical
            severe combined immunodeficiency.
REFERENCE   5  (bases 1 to 2833)
  AUTHORS   Rodriguez Gama,A., Miller,T., Lange,J.J., Unruh,J.R. and
            Halfmann,R.
  TITLE     A nucleation barrier spring-loads the CBM signalosome for binary
            activation
  JOURNAL   Elife 11, e79826 (2022)
   PUBMED   35727133
  REMARK    GeneRIF: A nucleation barrier spring-loads the CBM signalosome for
            binary activation.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2833)
  AUTHORS   Yan,M., Lee,J., Schilbach,S., Goddard,A. and Dixit,V.
  TITLE     mE10, a novel caspase recruitment domain-containing proapoptotic
            molecule
  JOURNAL   J Biol Chem 274 (15), 10287-10292 (1999)
   PUBMED   10187815
REFERENCE   7  (bases 1 to 2833)
  AUTHORS   Thome,M., Martinon,F., Hofmann,K., Rubio,V., Steiner,V.,
            Schneider,P., Mattmann,C. and Tschopp,J.
  TITLE     Equine herpesvirus-2 E10 gene product, but not its cellular
            homologue, activates NF-kappaB transcription factor and c-Jun
            N-terminal kinase
  JOURNAL   J Biol Chem 274 (15), 9962-9968 (1999)
   PUBMED   10187771
REFERENCE   8  (bases 1 to 2833)
  AUTHORS   Koseki,T., Inohara,N., Chen,S., Carrio,R., Merino,J.,
            Hottiger,M.O., Nabel,G.J. and Nunez,G.
  TITLE     CIPER, a novel NF kappaB-activating protein containing a caspase
            recruitment domain with homology to Herpesvirus-2 protein E10
  JOURNAL   J Biol Chem 274 (15), 9955-9961 (1999)
   PUBMED   10187770
REFERENCE   9  (bases 1 to 2833)
  AUTHORS   Willis,T.G., Jadayel,D.M., Du,M.Q., Peng,H., Perry,A.R.,
            Abdul-Rauf,M., Price,H., Karran,L., Majekodunmi,O., Wlodarska,I.,
            Pan,L., Crook,T., Hamoudi,R., Isaacson,P.G. and Dyer,M.J.
  TITLE     Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and
            mutated in multiple tumor types
  JOURNAL   Cell 96 (1), 35-45 (1999)
   PUBMED   9989495
REFERENCE   10 (bases 1 to 2833)
  AUTHORS   Lee,W.C., Balsara,B., Liu,Z., Jhanwar,S.C. and Testa,J.R.
  TITLE     Loss of heterozygosity analysis defines a critical region in
            chromosome 1p22 commonly deleted in human malignant mesothelioma
  JOURNAL   Cancer Res 56 (19), 4297-4301 (1996)
   PUBMED   8813110
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF082283.1, AK291346.1,
            AL590113.8 and CA420027.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 11, 2018 this sequence version replaced NM_003921.4.
            
            Summary: This gene was identified by its translocation in a case of
            mucosa-associated lymphoid tissue (MALT) lymphoma. The protein
            encoded by this gene contains a caspase recruitment domain (CARD),
            and has been shown to induce apoptosis and to activate NF-kappaB.
            This protein is reported to interact with other CARD domain
            containing proteins including CARD9, 10, 11 and 14, which are
            thought to function as upstream regulators in NF-kappaB signaling.
            This protein is found to form a complex with MALT1, a protein
            encoded by another gene known to be translocated in MALT lymphoma.
            MALT1 and this protein are thought to synergize in the activation
            of NF-kappaB, and the deregulation of either of them may contribute
            to the same pathogenetic process that leads to the malignancy.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR3476690.1065425.1,
                                           SRR3476690.276116.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000648566.1/ ENSP00000498104.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-158               AF082283.1         427-584
            159-1232            AK291346.1         89-1162
            1233-2227           AL590113.8         55899-56893         c
            2228-2833           CA420027.1         14-619              c
FEATURES             Location/Qualifiers
     source          1..2833
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.3"
     gene            1..2833
                     /gene="BCL10"
                     /gene_synonym="c-E10; CARMEN; CIPER; CLAP; IMD37; mE10"
                     /note="BCL10 immune signaling adaptor"
                     /db_xref="GeneID:8915"
                     /db_xref="HGNC:HGNC:989"
                     /db_xref="MIM:603517"
     exon            1..337
                     /gene="BCL10"
                     /gene_synonym="c-E10; CARMEN; CIPER; CLAP; IMD37; mE10"
                     /inference="alignment:Splign:2.1.0"
     CDS             281..982
                     /gene="BCL10"
                     /gene_synonym="c-E10; CARMEN; CIPER; CLAP; IMD37; mE10"
                     /note="isoform 1 is encoded by transcript variant 1;
                     CARD-containing apoptotic signaling protein; CARD
                     containing molecule enhancing NF-kB; caspase-recruiting
                     domain-containing protein; CARD-containing proapoptotic
                     protein; B-cell lymphoma/leukemia 10; hCLAP; cCARMEN;
                     cellular-E10; cellular homolog of vCARMEN; CARD-containing
                     molecule enhancing NF-kappa-B; mammalian CARD-containing
                     adapter molecule E10; CED-3/ICH-1 prodomain homologous
                     E10-like regulator; B cell CLL/lymphoma 10"
                     /codon_start=1
                     /product="B-cell lymphoma/leukemia 10 isoform 1"
                     /protein_id="NP_003912.1"
                     /db_xref="CCDS:CCDS704.1"
                     /db_xref="GeneID:8915"
                     /db_xref="HGNC:HGNC:989"
                     /db_xref="MIM:603517"
                     /translation="MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAK
                     KILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDE
                     VLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGES
                     STTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANS
                     SEMFLPLRSRTVSRQ"
     exon            338..626
                     /gene="BCL10"
                     /gene_synonym="c-E10; CARMEN; CIPER; CLAP; IMD37; mE10"
                     /inference="alignment:Splign:2.1.0"
     exon            627..2833
                     /gene="BCL10"
                     /gene_synonym="c-E10; CARMEN; CIPER; CLAP; IMD37; mE10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2342..2347
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL10"
                     /gene_synonym="c-E10; CARMEN; CIPER; CLAP; IMD37; mE10"
                     /note="hexamer: AATAAA"
     polyA_site      2361
                     /gene="BCL10"
                     /gene_synonym="c-E10; CARMEN; CIPER; CLAP; IMD37; mE10"
                     /note="major polyA site"
     regulatory      2811..2816
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCL10"
                     /gene_synonym="c-E10; CARMEN; CIPER; CLAP; IMD37; mE10"
                     /note="hexamer: AATAAA"
     polyA_site      2833
                     /gene="BCL10"
                     /gene_synonym="c-E10; CARMEN; CIPER; CLAP; IMD37; mE10"
ORIGIN      
        1 tgcctgcgcc tgagcctcta cgagagggaa ggaacgctgc tccgagctcc gcgtcgcgtc
       61 gcgtagattc gcgtcgccgt cgacctcaga ggcggggccg gaagcgctac ggtttgaccc
      121 ccgagtccct ctgttcccga aggggcggcc gtctttctcc cgacccgctc cgcctcctct
      181 ccttcttccc cattacccgg aggccgaagc ccccagccag ggcggggcgg cgcagcccga
      241 gctcccggac ccggaagaag cgccatctcc cgcctccacc atggagccca ccgcaccgtc
      301 cctcaccgag gaggacctca ctgaagtgaa gaaggacgcc ttagaaaatt tacgtgtata
      361 cctgtgtgag aaaatcatag ctgagagaca ttttgatcat ctacgtgcaa aaaaaatact
      421 cagtagagaa gacactgaag aaatttcttg tcgaacatca agtagaaaaa gggctggaaa
      481 attgttagac tacttacagg aaaacccaaa aggtctggac acccttgttg aatctattcg
      541 gcgagaaaaa acacagaact tcctgataca gaagattaca gatgaagtgc tgaaacttag
      601 aaatataaaa ctagaacatc tgaaaggact aaaatgtagc agttgtgaac cttttccaga
      661 tggagccacg aacaacctct ccagatcaaa ttcagatgag agtaatttct ctgaaaaact
      721 gagggcatcc actgtcatgt accatccaga aggagaatcc agcacgacgc cctttttttc
      781 tactaattct tctctgaatt tgcctgttct agaagtaggc agaactgaaa ataccatctt
      841 ctcttcaact acacttccca gacctgggga cccaggggct cctcctttgc caccagatct
      901 acagttagaa gaagaaggaa cttgtgcaaa ctctagtgag atgtttcttc ccttaagatc
      961 acgtactgtt tcacgacaat gacactttat tgccttttaa tttttaatga tgacaaaaaa
     1021 tgttttaaag aatatgactt tttataaaat ggctgtaatc atttgtttac atttgatgca
     1081 tgtcttttaa aatgcaatgt aagcatactt tgtaaatagg atttttagaa ttaaaaaagc
     1141 atacttctag gatagctaac tgtaaatcat gttgatcatg tactttttag taatttcttt
     1201 ttttcctttt taaggtcttt cagtactttt ttaaatattt tctattttaa gactgatttt
     1261 aatagggaat atatctctat ttgagaatag acccttacta ggaagaacgt tttttcctca
     1321 gtgcatttgt gctagaaatt ttcaagagtc taatagtctt tgccagtcat tcagcagcaa
     1381 attttcagca ttaagctgtt cctgttcagt aataaaaccg gtcactgatg ggaaaactgc
     1441 caatatagaa aaataaaaat ctcttttcca ctccattgtc gtataggcat gtaaacagcc
     1501 tctttttgat actggaggaa cacttgatgg agtgtgagcc acctaagatc tcggtttgcc
     1561 aaaattcatt tctaattaac cttactaatt atactacttt gttaggattt tcacattctt
     1621 ggcttaatca ttttcattcc taaagaaaaa tatcttggcc taaacctcag ttattacatg
     1681 taatttgatg aggtattttt tccttttttc tttttttttt tttttttttt ttgagacagt
     1741 cttgctctat cgcccaggct ggagtgcagt ggcgcattct aggctcactg caacttctgc
     1801 ctcccatgct tacgtgatcc tctcacctca gcctctcaag taatatagct gagactacaa
     1861 gtgtgtgcca ccatgcctca ctaatttttg tattattttt gtagagacgg tgttttgcca
     1921 tgttggccag gctggtcttg aactcctgga ctcaagcaac ctacccagcg tggcctccca
     1981 aagtgctggg attacagaca cgagccacct cacctagcct gatgagattt ttaaaaaata
     2041 ttttctctgt acttttcatt ctcttttaat gaggaccaat gtacagttga aataactgga
     2101 acaaattatt tttggtgtgt gtgacaattc tgtttttaat gctatttgaa caagtgggcc
     2161 attagccaga tttgtctttt tgttgtaaaa caaaatttga ctaattttac atgtttataa
     2221 atcttatgct ctcactgttt gtttttattt aaattacaat tttatctgtt tcctgacatt
     2281 gtctcctata tatttctatt attaattgca aaaacataga aatggaaatt ttgctatcaa
     2341 caataaaatt tttttaaagt agtgagtgct attttggagt tccaaatttt cagtaggaag
     2401 tatctaaaac tttttttaat acgtgccatt atctatagaa aacattactt caggttgtga
     2461 gattgagttg catttctgga tggactgatg aatttatccg acatgaagaa gattggcata
     2521 ttagctttaa aaatttttaa agattggatt ttttttagta taagcacttt ctaaggatta
     2581 tagagaaatg tttcacctcc aatgcatagc aaaaatagtg gtgttagaaa gaaaataggt
     2641 tacatttaag gaaggtgctt taaaaagcag aagcagactt taaaattaaa tttgtggaca
     2701 cctttttaaa aattgaatca aagattataa tttagatata caataacacc tatatataga
     2761 taagttttaa cactgagttt tctttcagac tgttttctaa ctacatagac aataaaatta
     2821 agctttgcat aaa
//
