LOCUS       NM_080749               1199 bp    mRNA    linear   PRI 10-JUN-2024
DEFINITION  Homo sapiens neuralized E3 ubiquitin protein ligase 2 (NEURL2),
            transcript variant 1, mRNA.
ACCESSION   NM_080749 NR_074073
VERSION     NM_080749.4
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 1199)
  AUTHORS   Rullinkov,G., Tamme,R., Sarapuu,A., Lauren,J., Sepp,M., Palm,K. and
            Timmusk,T.
  TITLE     Neuralized-2: expression in human and rodents and interaction with
            Delta-like ligands
  JOURNAL   Biochem Biophys Res Commun 389 (3), 420-425 (2009)
   PUBMED   19723503
REFERENCE   2  (bases 1 to 1199)
  AUTHORS   Aurino,S., Piluso,G., Saccone,V., Cacciottolo,M., D'Amico,F.,
            Dionisi,M., Totaro,A., Belsito,A., Di Vicino,U. and Nigro,V.
  TITLE     Candidate-gene testing for orphan limb-girdle muscular dystrophies
  JOURNAL   Acta Myol 27 (3), 90-97 (2008)
   PUBMED   19472918
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 1199)
  AUTHORS   Wu,G., Liu,C. and He,X.
  TITLE     Ozz; a new name on the long list of beta-catenin's nemeses
  JOURNAL   Mol Cell 13 (4), 451-453 (2004)
   PUBMED   14992713
  REMARK    Review article
REFERENCE   4  (bases 1 to 1199)
  AUTHORS   Nastasi,T., Bongiovanni,A., Campos,Y., Mann,L., Toy,J.N.,
            Bostrom,J., Rottier,R., Hahn,C., Conaway,J.W., Harris,A.J. and
            D'Azzo,A.
  TITLE     Ozz-E3, a muscle-specific ubiquitin ligase, regulates beta-catenin
            degradation during myogenesis
  JOURNAL   Dev Cell 6 (2), 269-282 (2004)
   PUBMED   14960280
REFERENCE   5  (bases 1 to 1199)
  AUTHORS   Kile,B.T., Schulman,B.A., Alexander,W.S., Nicola,N.A., Martin,H.M.
            and Hilton,D.J.
  TITLE     The SOCS box: a tale of destruction and degradation
  JOURNAL   Trends Biochem Sci 27 (5), 235-241 (2002)
   PUBMED   12076535
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK054821.1 and HY058356.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 11, 2020 this sequence version replaced NM_080749.3.
            
            Summary: This gene encodes a protein that is involved in the
            regulation of myofibril organization. This protein is likely the
            adaptor component of the E3 ubiquitin ligase complex in striated
            muscle, and it regulates the ubiquitin-mediated degradation of
            beta-catenin during myogenesis. Alternative splicing of this gene
            results in multiple transcript variants. [provided by RefSeq, Jun
            2013].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK054821.1, BC105935.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372518.5/ ENSP00000361596.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1111              AK054821.1         80-1190
            1112-1199           HY058356.1         169-256             c
FEATURES             Location/Qualifiers
     source          1..1199
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..1199
                     /gene="NEURL2"
                     /gene_synonym="C20orf163; OZZ; OZZ-E3"
                     /note="neuralized E3 ubiquitin protein ligase 2"
                     /db_xref="GeneID:140825"
                     /db_xref="HGNC:HGNC:16156"
                     /db_xref="MIM:608597"
     exon            1..959
                     /gene="NEURL2"
                     /gene_synonym="C20orf163; OZZ; OZZ-E3"
                     /inference="alignment:Splign:2.1.0"
     CDS             218..1075
                     /gene="NEURL2"
                     /gene_synonym="C20orf163; OZZ; OZZ-E3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     neuralized-like protein 2; neuralized homolog 2"
                     /codon_start=1
                     /product="neuralized-like protein 2 isoform 1"
                     /protein_id="NP_542787.1"
                     /db_xref="CCDS:CCDS13384.1"
                     /db_xref="GeneID:140825"
                     /db_xref="HGNC:HGNC:16156"
                     /db_xref="MIM:608597"
                     /translation="MAAASEPVDSGALWGLERPEPPPTRFHRVHGANIRVDPSGTRAT
                     RVESFAHGVCFSREPLAPGQVFLVEIEEKELGWCGHLRLGLTALDPASLAPVPEFSLP
                     DLVNLGHTWVFAITRHHNRVPREGRPEAEAAAPSRPPTLLVEPYLRIEQFRIPRDRLV
                     GRSRPGLYSHLLDQLYELNVLPPTARRSRLGVLFCPRPDGTADMHIIINGEDMGPSAR
                     GLPAAQPLYAVVDVFASTKSVRLVQLEYGLPSLQTLCRLVIQRSMVHRLAIDGLHLPK
                     ELKDFCKYE"
     exon            960..1199
                     /gene="NEURL2"
                     /gene_synonym="C20orf163; OZZ; OZZ-E3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1173..1178
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEURL2"
                     /gene_synonym="C20orf163; OZZ; OZZ-E3"
                     /note="hexamer: AATAAA"
     polyA_site      1199
                     /gene="NEURL2"
                     /gene_synonym="C20orf163; OZZ; OZZ-E3"
                     /note="major polyA site"
ORIGIN      
        1 gcagatcgta gcccgggcgc acgcgatcag atgatcctgt tgtggacggc taagttgtag
       61 gcgggatggc tgagaaagcg gcgctaggac ccccgggcag aggctcgggg aagggagtca
      121 ggggggaaat gccttacaag gtcgccttgc ggtcaccatc attgcccgcc gcccaaaata
      181 gcccccggcg ccagctggcc tgccctatgg ccgagagatg gctgctgcct ccgagcccgt
      241 ggattcgggt gcactctggg gactcgagcg cccggagccc cctcccaccc gcttccatcg
      301 ggtgcacggt gccaacatcc gcgtggaccc ctctgggacg cgggccacac gcgtggagag
      361 cttcgcccac ggcgtgtgct tcagccgcga gccgctggcc ccgggccagg tcttcctggt
      421 cgagatcgag gagaaagagc tgggctggtg cggacatctg cgtctcggtc tgaccgcgct
      481 ggaccccgcc agtctggccc ccgttcccga gttttctctg cccgatctgg tcaacctggg
      541 ccacacctgg gtcttcgcca tcacgcgcca ccacaaccgc gtgccccggg agggccgccc
      601 ggaggcggag gcagcggccc ccagccgacc tccaaccctc ctcgtggaac catatctgcg
      661 cattgagcag tttcgcattc cccgggaccg cctggtgggc cgcagccggc cagggctcta
      721 cagccatctc ttggaccagc tctatgagct gaacgtgctg cctccgaccg cgcgccgtag
      781 ccgcctgggt gtcctctttt gcccgcgccc cgatggcacg gccgacatgc acatcatcat
      841 caacggcgag gacatgggcc cgagcgcccg gggactgcca gctgcgcagc ccctctacgc
      901 ggtggtggac gtgtttgctt ccacaaagag cgtgcgcctt gtccagctcg agtatggctt
      961 gccatccctg cagactctgt gccgcctagt gatacaaagg agcatggtgc accggctggc
     1021 cattgatggg ctccacctgc ccaaagaact taaggatttc tgcaagtatg agtgaagacc
     1081 cacagtgcac cagagcacag ctgcatcctg gagccccaga cctgtggctg gctggtccga
     1141 agttggccac attgctgcca gccaagacca gaaataaaca gccgatgctg acatcttga
//
