LOCUS       NM_012116               1576 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens Cbl proto-oncogene C (CBLC), transcript variant 1,
            mRNA.
ACCESSION   NM_012116
VERSION     NM_012116.4
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 1576)
  AUTHORS   Li,W., Lei,T., Song,X., Deng,C., Lu,J., Zhang,W., Kuang,Z., He,Y.,
            Zhou,Q., Luo,Z., Mo,F., Yang,H., Hang,J., Xiao,B. and Li,L.
  TITLE     CBLC inhibits the proliferation and metastasis of breast cancer
            cells via ubiquitination and degradation of CTTN
  JOURNAL   J Recept Signal Transduct Res 42 (6), 588-598 (2022)
   PUBMED   36043996
  REMARK    GeneRIF: CBLC inhibits the proliferation and metastasis of breast
            cancer cells via ubiquitination and degradation of CTTN.
REFERENCE   2  (bases 1 to 1576)
  AUTHORS   Hong,S.Y., Lu,Y.C., Hsiao,S.H., Kao,Y.R., Lee,M.H., Lin,Y.P.,
            Wang,C.Y. and Wu,C.W.
  TITLE     Stabilization of AURKA by the E3 ubiquitin ligase CBLC in lung
            adenocarcinoma
  JOURNAL   Oncogene 41 (13), 1907-1917 (2022)
   PUBMED   35149839
  REMARK    GeneRIF: Stabilization of AURKA by the E3 ubiquitin ligase CBLC in
            lung adenocarcinoma.
REFERENCE   3  (bases 1 to 1576)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1576)
  AUTHORS   Nau,M.M. and Lipkowitz,S.
  TITLE     Comparative genomic organization of the cbl genes
  JOURNAL   Gene 308, 103-113 (2003)
   PUBMED   12711395
REFERENCE   5  (bases 1 to 1576)
  AUTHORS   Loreto,M.P., Berry,D.M. and McGlade,C.J.
  TITLE     Functional cooperation between c-Cbl and Src-like adaptor protein 2
            in the negative regulation of T-cell receptor signaling
  JOURNAL   Mol Cell Biol 22 (12), 4241-4255 (2002)
   PUBMED   12024036
REFERENCE   6  (bases 1 to 1576)
  AUTHORS   Kim,M., Tezuka,T., Suziki,Y., Sugano,S., Hirai,M. and Yamamoto,T.
  TITLE     Molecular cloning and characterization of a novel cbl-family gene,
            cbl-c
  JOURNAL   Gene 239 (1), 145-154 (1999)
   PUBMED   10571044
REFERENCE   7  (bases 1 to 1576)
  AUTHORS   Keane,M.M., Ettenberg,S.A., Nau,M.M., Banerjee,P., Cuello,M.,
            Penninger,J. and Lipkowitz,S.
  TITLE     cbl-3: a new mammalian cbl family protein
  JOURNAL   Oncogene 18 (22), 3365-3375 (1999)
   PUBMED   10362357
REFERENCE   8  (bases 1 to 1576)
  AUTHORS   Ettenberg,S.A., Keane,M.M., Nau,M.M., Frankel,M., Wang,L.M.,
            Pierce,J.H. and Lipkowitz,S.
  TITLE     cbl-b inhibits epidermal growth factor receptor signaling
  JOURNAL   Oncogene 18 (10), 1855-1866 (1999)
   PUBMED   10086340
REFERENCE   9  (bases 1 to 1576)
  AUTHORS   Irby,R.B., Mao,W., Coppola,D., Kang,J., Loubeau,J.M., Trudeau,W.,
            Karl,R., Fujita,D.J., Jove,R. and Yeatman,T.J.
  TITLE     Activating SRC mutation in a subset of advanced human colon cancers
  JOURNAL   Nat Genet 21 (2), 187-190 (1999)
   PUBMED   9988270
REFERENCE   10 (bases 1 to 1576)
  AUTHORS   Ollendorff,V., Mattei,M., Fournier,E., Adelaide,J., Lopez,M.,
            Rosnet,O. and Birnbaum,D.
  TITLE     A third human CBL gene is on chromosome 19
  JOURNAL   Int J Oncol 13 (6), 1159-1161 (1998)
   PUBMED   9824625
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF117646.1, BC028915.1 and
            AC092066.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 10, 2018 this sequence version replaced NM_012116.3.
            
            Summary: This gene encodes a member of the Cbl family of E3
            ubiquitin ligases. Cbl proteins play important roles in cell
            signaling through the ubiquitination and subsequent downregulation
            of tyrosine kinases. Expression of this gene may be restricted to
            epithelial cells, and alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene.
            [provided by RefSeq, Feb 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes protein 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 :: AF117646.1, AB028645.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647358.2/ ENSP00000494162.1
            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
            1-1254              AF117646.1         22-1275
            1255-1278           BC028915.1         1234-1257
            1279-1558           AF117646.1         1300-1579
            1559-1576           AC092066.4         137303-137320
FEATURES             Location/Qualifiers
     source          1..1576
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..1576
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /note="Cbl proto-oncogene C"
                     /db_xref="GeneID:23624"
                     /db_xref="HGNC:HGNC:15961"
                     /db_xref="MIM:608453"
     exon            1..395
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1467
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Cas-Br-M (murine) ectropic retroviral transforming
                     sequence c; signal transduction protein CBL-C; RING finger
                     protein 57; SH3-binding protein CBL-3; SH3-binding protein
                     CBL-C; Cbl proto-oncogene C, E3 ubiquitin protein ligase;
                     Cas-Br-M (murine) ecotropic retroviral transforming
                     sequence c; Cbl proto-oncogene, E3 ubiquitin protein
                     ligase C; RING-type E3 ubiquitin transferase CBL-C; E3
                     ubiquitin-protein ligase CBL-C"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase CBL-C isoform 1"
                     /protein_id="NP_036248.3"
                     /db_xref="CCDS:CCDS12643.1"
                     /db_xref="GeneID:23624"
                     /db_xref="HGNC:HGNC:15961"
                     /db_xref="MIM:608453"
                     /translation="MALAVAPWGRQWEEARALGRAVRMLQRLEEQCVDPRLSVSPPSL
                     RDLLPRTAQLLREVAHSRRAAGGGGPGGPGGSGDFLLIYLANLEAKSRQVAALLPPRG
                     RRSANDELFRAGSRLRRQLAKLAIIFSHMHAELHALFPGGKYCGHMYQLTKAPAHTFW
                     RESCGARCVLPWAEFESLLGTCHPVEPGCTALALRTTIDLTCSGHVSIFEFDVFTRLF
                     QPWPTLLKNWQLLAVNHPGYMAFLTYDEVQERLQACRDKPGSYIFRPSCTRLGQWAIG
                     YVSSDGSILQTIPANKPLSQVLLEGQKDGFYLYPDGKTHNPDLTELGQAEPQQRIHVS
                     EEQLQLYWAMDSTFELCKICAESNKDVKIEPCGHLLCSCCLAAWQHSDSQTCPFCRCE
                     IKGWEAVSIYQFHGQATAEDSGNSSDQEGRELELGQVPLSAPPLPPRPDLPPRKPRNA
                     QPKVRLLKGNSPPAALGPQDPAPA"
     exon            396..542
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /inference="alignment:Splign:2.1.0"
     exon            543..699
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /inference="alignment:Splign:2.1.0"
     exon            700..821
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /inference="alignment:Splign:2.1.0"
     exon            822..959
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /inference="alignment:Splign:2.1.0"
     exon            960..1047
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1179
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1326
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /inference="alignment:Splign:2.1.0"
     exon            1327..1404
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1474
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /inference="alignment:Splign:2.1.0"
     exon            1475..1576
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1534..1539
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /note="hexamer: AATAAA"
     polyA_site      1572
                     /gene="CBLC"
                     /gene_synonym="CBL-3; CBL-SL; RNF57"
                     /note="major polyA site"
ORIGIN      
        1 atcccagccg caccggtcct tcccggcaca cgcgaggctc ccatggctct ggcggtggcc
       61 ccgtgggggc gacagtggga agaggcccgc gccctgggcc gggcagtcag gatgctgcag
      121 cgcctagaag agcaatgcgt cgacccccgg ctgtccgtga gtcccccttc gctgcgggac
      181 ctgctgcccc gcacagcgca gctgcttcga gaggtggccc attctcggcg ggcggccggc
      241 ggaggcggcc ccgggggtcc cggcggctct ggggactttc tactcatcta cctggccaat
      301 ctggaggcca agagcaggca ggtggccgcg ctgctgcctc cccggggccg aaggagtgcc
      361 aacgacgagc tcttccgggc gggctccaga ctcaggcgac agctggccaa gctggccatc
      421 atcttcagcc acatgcacgc agagctgcac gcactcttcc ccgggggaaa gtactgtgga
      481 cacatgtacc agctcaccaa ggcccccgcc cacaccttct ggagggaaag ttgcggagcc
      541 cggtgtgtgc tgccctgggc tgagtttgag tccctcctgg gcacctgcca ccctgtggaa
      601 ccaggctgca cagccctggc cttgcgcacc accattgacc tcacctgcag cgggcacgtg
      661 tccatcttcg agttcgacgt cttcaccagg ctctttcagc catggccaac actcctcaag
      721 aactggcagc tcctggcagt caaccaccca ggctacatgg ccttcctcac ctatgatgag
      781 gtccaagagc gtctgcaggc ctgcagggac aagccaggca gttacatctt ccggcccagc
      841 tgtactcgcc tggggcagtg ggccatcggc tatgtgagct cagatggcag catcctgcag
      901 accatccctg ccaacaaacc cctgtcccag gtgctcctgg agggacagaa ggacggcttc
      961 tacctctacc cagatggaaa gacccacaac ccagacctga ctgagctcgg ccaggcagaa
     1021 ccccagcagc gcatccacgt gtcagaggag cagctgcagc tctactgggc catggactcc
     1081 acatttgagc tctgcaagat ctgtgctgag agcaacaagg atgtgaagat tgagccgtgc
     1141 gggcacctgc tctgcagctg ctgcctggct gcctggcagc actcggacag ccagacctgc
     1201 cccttctgcc gctgcgagat caagggctgg gaggccgtga gtatctacca gttccacggt
     1261 caggctactg ctgaggactc agggaacagc agtgaccagg aaggcaggga gttggagctg
     1321 gggcaggtgc ccctttcggc tcctccattg cccccacggc cagatctgcc ccccaggaag
     1381 cccagaaatg cccagccgaa agtgagactc ctaaagggga actcccctcc agctgcgctg
     1441 ggaccccagg accctgcccc ggcctgaagg ccagggcacc cagatgtgct gctcaaggga
     1501 gccccaaggg ctggaagggg gttgtgaaac cgaaataaac tgccaagcct ggtctgtcct
     1561 ccagggtgca aaggaa
//
