LOCUS       NM_024814               3987 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens Cbl proto-oncogene like 1 (CBLL1), transcript variant
            1, mRNA.
ACCESSION   NM_024814
VERSION     NM_024814.4
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 3987)
  AUTHORS   Liu,X., Wei,X., Wu,J., Xu,Y., Hu,J., Qin,C., Chen,C. and Lin,Y.
  TITLE     CBLL1 promotes endometrial stromal cell senescence via inhibiting
            PTEN in recurrent spontaneous abortion
  JOURNAL   FASEB J 38 (14), e23833 (2024)
   PUBMED   39012313
  REMARK    GeneRIF: CBLL1 promotes endometrial stromal cell senescence via
            inhibiting PTEN in recurrent spontaneous abortion.
REFERENCE   2  (bases 1 to 3987)
  AUTHORS   Alfonsin,G., Berral-Gonzalez,A., Rodriguez-Alonso,A., Quiroga,M.,
            De Las Rivas,J. and Figueroa,A.
  TITLE     Stratification of Colorectal Patients Based on Survival Analysis
            Shows the Value of Consensus Molecular Subtypes and Reveals the
            CBLL1 Gene as a Biomarker of CMS2 Tumours
  JOURNAL   Int J Mol Sci 25 (3), 1919 (2024)
   PUBMED   38339195
  REMARK    GeneRIF: Stratification of Colorectal Patients Based on Survival
            Analysis Shows the Value of Consensus Molecular Subtypes and
            Reveals the CBLL1 Gene as a Biomarker of CMS2 Tumours.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3987)
  AUTHORS   Fernandez,R., Zubiaurre-Elorza,L., Santisteban,A., Ojeda,N.,
            Collet,S., Kiyar,M., T'Sjoen,G., Mueller,S.C., Guillamon,A. and
            Pasaro,E.
  TITLE     CBLL1 is hypomethylated and correlates with cortical thickness in
            transgender men before gender affirming hormone treatment
  JOURNAL   Sci Rep 13 (1), 21609 (2023)
   PUBMED   38062063
  REMARK    GeneRIF: CBLL1 is hypomethylated and correlates with cortical
            thickness in transgender men before gender affirming hormone
            treatment.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3987)
  AUTHORS   Roca-Lema,D., Quiroga,M., Khare,V., Diaz-Diaz,A.,
            Barreiro-Alonso,A., Rodriguez-Alonso,A., Concha,A., Romay,G.,
            Cerdan,M.E., Gasche,C. and Figueroa,A.
  TITLE     Role of the E3 ubiquitin-ligase Hakai in intestinal inflammation
            and cancer bowel disease
  JOURNAL   Sci Rep 12 (1), 17571 (2022)
   PUBMED   36266428
  REMARK    GeneRIF: Role of the E3 ubiquitin-ligase Hakai in intestinal
            inflammation and cancer bowel disease.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3987)
  AUTHORS   Qiu,H.B., Yang,K., Yu,H.Y. and Liu,M.
  TITLE     Downregulation of long non-coding RNA XIST inhibits cell
            proliferation, migration, invasion and EMT by regulating
            miR-212-3p/CBLL1 axis in non-small cell lung cancer cells
  JOURNAL   Eur Rev Med Pharmacol Sci 23 (19), 8391-8402 (2019)
   PUBMED   31646569
  REMARK    GeneRIF: Downregulation of long non-coding RNA XIST inhibits cell
            proliferation, migration, invasion and EMT by regulating
            miR-212-3p/CBLL1 axis in non-small cell lung cancer cells.
REFERENCE   6  (bases 1 to 3987)
  AUTHORS   Figueroa,A., Kotani,H., Toda,Y., Mazan-Mamczarz,K., Mueller,E.C.,
            Otto,A., Disch,L., Norman,M., Ramdasi,R.M., Keshtgar,M., Gorospe,M.
            and Fujita,Y.
  TITLE     Novel roles of hakai in cell proliferation and oncogenesis
  JOURNAL   Mol Biol Cell 20 (15), 3533-3542 (2009)
   PUBMED   19535458
  REMARK    GeneRIF: Results suggest that Hakai is an important regulator of
            cell proliferation and that Hakai may be an oncoprotein and a
            potential molecular target for cancer treatment.
REFERENCE   7  (bases 1 to 3987)
  AUTHORS   Frame,M.C.
  TITLE     Newest findings on the oldest oncogene; how activated src does it
  JOURNAL   J Cell Sci 117 (Pt 7), 989-998 (2004)
   PUBMED   14996930
  REMARK    Review article
REFERENCE   8  (bases 1 to 3987)
  AUTHORS   Obuse,C., Yang,H., Nozaki,N., Goto,S., Okazaki,T. and Yoda,K.
  TITLE     Proteomics analysis of the centromere complex from HeLa interphase
            cells: UV-damaged DNA binding protein 1 (DDB-1) is a component of
            the CEN-complex, while BMI-1 is transiently co-localized with the
            centromeric region in interphase
  JOURNAL   Genes Cells 9 (2), 105-120 (2004)
   PUBMED   15009096
REFERENCE   9  (bases 1 to 3987)
  AUTHORS   Pece,S. and Gutkind,J.S.
  TITLE     E-cadherin and Hakai: signalling, remodeling or destruction?
  JOURNAL   Nat Cell Biol 4 (4), E72-E74 (2002)
   PUBMED   11944035
REFERENCE   10 (bases 1 to 3987)
  AUTHORS   Fujita,Y., Krause,G., Scheffner,M., Zechner,D., Leddy,H.E.,
            Behrens,J., Sommer,T. and Birchmeier,W.
  TITLE     Hakai, a c-Cbl-like protein, ubiquitinates and induces endocytosis
            of the E-cadherin complex
  JOURNAL   Nat Cell Biol 4 (3), 222-231 (2002)
   PUBMED   11836526
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC002467.1, BC130529.1 and AI055864.1.
            
            On Nov 23, 2018 this sequence version replaced NM_024814.3.
            
            Summary: This gene encodes an E3 ubiquitin-ligase for the
            E-cadherin complex and mediates its ubiquitination, endocytosis,
            and degradation in the lysosomes. The encoded protein contains a
            RING-finger domain and is also thought to have a role in control of
            cell proliferation. A related pseudogene has been identified on
            chromosome X. Alternative splicing results in a non-coding
            transcript variant. [provided by RefSeq, Aug 2011].
            
            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 :: SRR1660807.159733.1,
                                           SRR1660803.76366.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000440859.8/ ENSP00000401277.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC002467.1         59695-59697
            4-1769              BC130529.1         1-1766
            1770-3823           AC002467.1         75003-77056
            3824-3987           AI055864.1         16-179              c
FEATURES             Location/Qualifiers
     source          1..3987
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.3"
     gene            1..3987
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /note="Cbl proto-oncogene like 1"
                     /db_xref="GeneID:79872"
                     /db_xref="HGNC:HGNC:21225"
                     /db_xref="MIM:606872"
     exon            1..35
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..1498
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1; E3
                     ubiquitin-protein ligase Hakai; RING-type E3 ubiquitin
                     transferase Hakai; Cbl proto-oncogene like 1, E3 ubiquitin
                     protein ligase; Cas-Br-M (murine) ecotropic retroviral
                     transforming sequence-like 1; Cbl proto-oncogene, E3
                     ubiquitin protein ligase-like 1; E-cadherin binding
                     protein E7; c-Cbl-like protein 1; RING finger protein 188;
                     casitas B-lineage lymphoma-transforming sequence-like
                     protein 1"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase Hakai isoform 1"
                     /protein_id="NP_079090.2"
                     /db_xref="CCDS:CCDS5747.1"
                     /db_xref="GeneID:79872"
                     /db_xref="HGNC:HGNC:21225"
                     /db_xref="MIM:606872"
                     /translation="MDHTDNELQGTNSSGSLGGLDVRRRIPIKLISKQANKAKPAPRT
                     QRTINRMPAKAPPGDEEGFDYNEEERYDCKGGELFANQRRFPGHLFWDFQINILGEKD
                     DTPVHFCDKCGLPIKIYGRMIPCKHVFCYDCAILHEKKGDKMCPGCSDPVQRIEQCTR
                     GSLFMCSIVQGCKRTYLSQRDLQAHINHRHMRAGKPVTRASLENVHPPIAPPPTEIPE
                     RFIMPPDKHHMSHIPPKQHIMMPPPPLQHVPHEHYNQPHEDIRAPPAELSMAPPPPRS
                     VSQETFRISTRKHSNLITVPIQDDSNSGAREPPPPAPAPAHHHPEYQGQPVVSHPHHI
                     MPPQQHYAPPPPPPPPISHPMPHPPQAAGTPHLVYSQAPPPPMTSAPPPITPPPGHII
                     AQMPPYMNHPPPGPPPPQHGGPPVTAPPPHHYNPNSLPQFTEDQGTLSPPFTQPGGMS
                     PGIWPAPRGPPPPPRLQGPPSQTPLPGPHHPDQTRYRPYYQ"
     exon            36..203
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /inference="alignment:Splign:2.1.0"
     exon            204..304
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /inference="alignment:Splign:2.1.0"
     exon            305..388
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /inference="alignment:Splign:2.1.0"
     exon            389..462
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /inference="alignment:Splign:2.1.0"
     exon            463..3987
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1879..1884
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /note="hexamer: ATTAAA"
     polyA_site      1904
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /note="major polyA site"
     regulatory      1985..1990
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /note="hexamer: AATAAA"
     polyA_site      2006
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
     regulatory      3964..3969
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /note="hexamer: AATAAA"
     polyA_site      3987
                     /gene="CBLL1"
                     /gene_synonym="HAKAI; RNF188"
                     /note="major polyA site"
ORIGIN      
        1 actgtgctct gcgagccgaa tcatggatca cactgacaat gagttacaag gcactaatag
       61 ttctggatcc ttgggtggtc ttgatgttcg cagacgaatt cctataaagc tcatctccaa
      121 acaagcaaac aaagcgaaac ctgcaccgcg aactcaaaga actataaaca ggatgcctgc
      181 aaaggctcca cctggtgatg aagaaggatt tgattataat gaagaagaac ggtatgactg
      241 taaagggggt gagctgtttg caaatcagcg aagatttcct ggacaccttt tttgggactt
      301 tcagataaac atcttaggtg aaaaggatga tacaccagtt catttctgtg acaagtgtgg
      361 attgcctatt aaaatctatg ggagaatgat tccatgcaag catgtttttt gctatgactg
      421 tgctatttta catgaaaaaa agggagataa gatgtgtcca ggctgtagtg atcctgtgca
      481 gcgaattgag cagtgtacac gaggttctct cttcatgtgt agcattgttc aagggtgcaa
      541 gagaacatat ttgtctcaga gagacttaca ggctcatatc aaccatcgcc atatgagagc
      601 tggaaaacct gttacccgtg cttcacttga aaatgttcat cctcctattg ccccaccacc
      661 aactgaaatc cctgagcgtt ttataatgcc accagacaag caccatatga gccatattcc
      721 gccaaagcag cacatcatga tgccaccacc tcctttgcaa catgtgccac atgagcacta
      781 taatcagcca catgaggata ttcgtgctcc tccagcagaa ttgtccatgg ctccacctcc
      841 acctcgatcg gtcagtcagg aaacctttcg tatttcaaca agaaaacaca gcaatttaat
      901 aaccgtccct attcaggatg actcaaattc aggtgctaga gaaccaccac ctcctgcccc
      961 agcacctgct caccatcatc ctgaatatca gggtcaacca gtggtatcgc accctcatca
     1021 tattatgcct ccacagcaac attatgcacc acccccacct cctccaccac caataagcca
     1081 tccaatgcca catcctcccc aggctgcagg tactcctcac ttggtatata gccaagctcc
     1141 acctccacca atgacctctg ctccaccacc aataacccct ccccctggac atattattgc
     1201 ccagatgcca ccttatatga atcatcctcc tccaggacct cccccacctc aacatggtgg
     1261 tccacctgta actgcacccc ctcctcacca ttataatcct aactcattac cccagttcac
     1321 tgaagatcaa ggaactctga gccctccatt tacacaacca gggggaatga gtcctggtat
     1381 atggcctgca ccaagagggc caccaccacc tccacgattg cagggtccgc cttctcaaac
     1441 cccacttcct ggaccacatc atccagatca gacaagatat agaccgtatt accaatgata
     1501 atagtatttt gaatggaaga tatgaggggg aaaaaaactt atgtgtagtc aatcttttaa
     1561 gctttgactg ttttgggaag gaagagtacc tcttatcgag gtagtataaa acacataggg
     1621 tcttgtttct taaaatggtt ttaaatcttg accttaagat tgatttcaag taccatactg
     1681 tagtacagat aagtggctca gttgagcaca gctatatttt aacatctctt tgttccccta
     1741 gtttagtaaa ttgacccaga ggtgaccatt tgtaaaaaat ttgaaaaaat ttttcattgt
     1801 tttacttcaa aagtattgtt ttgttaaacc caacgtttag tttttcttgt gatacatttt
     1861 gttaacctgt gtaaaaggat taaatttcaa tatggttgta aaaatgctat ttttatgtga
     1921 atttaagtgc agccacatac tgttttttaa accatatgtt ttaccactaa tttcccaaag
     1981 ttataataaa atcctgaaag taaaaatcta ctagaatttg ctgtaaggca gactgttaaa
     2041 tgatagagaa ttatttcaca ttttaggcac tgaaatgttg aggtttcgag gtatagtaag
     2101 tatacaatgc acttcacttg gatgcctttt catttttagg cagcctcagg agcaccaaaa
     2161 tacattggaa ttctagtact aagatatatt tgttcgtaat gttaaaagac attactaatt
     2221 atttggaaag agatggccaa aataatcaac tctacaggct tcaagctggt gggggaatgc
     2281 tgttactcat taatgctttt ttactgaatg gtcggaatca catatgcacc acacatactg
     2341 atcttaagta acattatttt atagaactgt ttaaatgggt ttaaatggtg ttctttagat
     2401 gaaatgtgtt ctgttttgtt cattgtctta aactgaatag ggctgaatag gctttatgta
     2461 attcttcatt tcatggtaga gtttgatgct gtgtttaagt gggttcttgt ttataggatt
     2521 ttcaactaca gtttgaatgc catggaggaa tttgaataat atattaatga aggacatatt
     2581 cttgtaatca caaatttgca tttgctcagg tttcattgct gtgtgatagg atttttcctc
     2641 taacttgaaa tttaaaaact tttatttcct attccttttg tcggtaaagc agtctgaatt
     2701 tggaacattt tatcatggag tcaacagtga agactaccag ataattttgt attggagaag
     2761 aggaaataac agctaaattg tggatttcag tgctttacat ggtgcctttc gagtcagctt
     2821 ttacattata ggggcttgtt atagtttagc taagatgacc acttaacagt ttatacagaa
     2881 ctcatatgta taaatcaaca ttcttaggat attatttata tcctttgaat aaatccctgt
     2941 gaagtttttc ctccccacta aaatggtgca taataaaaca tgaaatatgt agtatgcaga
     3001 tatcatttat tagatagttt gtagtgtata catttagaac atacttcttt tgacaaaggg
     3061 tgatctgatt gctaatttac cattttattc tgtcaggtac aggtgaaaca aattctcatc
     3121 ttgaatgatc agatgcaaaa tcatttctga accctagagc agaagttaga aataacaaaa
     3181 tggccgtttc aaccttgact ggccaaaaat aactaataaa cttttttgtt ttaagtcagg
     3241 caagtgattt tctacattta gcagtttgaa agtccagtgt taatgcaata tttctagtga
     3301 gaaatgcttg ttattaaaag catgggagtg atagtgtgaa atggtggtga gtgcttctat
     3361 catattactg taggtacttg gactggtgca aacttgattc cttttcatcc ccctgtttag
     3421 gagctattaa aatattactg ttaaaaatcc aaaccattct ttgttccatg taataagaaa
     3481 atagccaaaa tcactttaga gcttctcaac tatttatgaa gagctatcct gcttttattg
     3541 aaagtcacta gagttgaatg tggtaagaaa ccacttagcc tatgtattgg acgagaaaat
     3601 cagtatcatg ataaaatttt gaattaagag aacccttgta gagtttttaa aaaatgattt
     3661 attttcaatt aggtttaaga aatctatgtt atgcagggag gcatatcaga tgaatgttgt
     3721 agcagacaaa agttttaaat cgtgttagac ttgaattcat caattgtttg aatgagggtg
     3781 ggtgggtaga aggataacaa aattactgtt agtgtttctt tccttacgga aaaagatgtg
     3841 aatcccagcc ttatttcagg gaagcctttg aagctatgat ggacataagt ctaaattaaa
     3901 tgtatgtatg tttcattata ttgctcttaa gactactgag gtggcagttt aattcttaaa
     3961 aacaataaaa tggaagcata aatacta
//
