LOCUS       NM_001178020            2907 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens brain expressed associated with NEDD4 1 (BEAN1),
            transcript variant 1, mRNA.
ACCESSION   NM_001178020
VERSION     NM_001178020.3
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 2907)
  AUTHORS   Jiang,K., Bai,B., Ta,Y., Zhang,T., Xiao,Z., Wang,P.G. and Zhang,L.
  TITLE     O-GlcNAc regulates NEDD4-1 stability via caspase-mediated pathway
  JOURNAL   Biochem Biophys Res Commun 471 (4), 539-544 (2016)
   PUBMED   26876577
  REMARK    GeneRIF: this study reveals a regulation mechanism of NEDD4-1
            stability by O-GlcNAcylation.
REFERENCE   2  (bases 1 to 2907)
  AUTHORS   Niimi,Y., Takahashi,M., Sugawara,E., Umeda,S., Obayashi,M.,
            Sato,N., Ishiguro,T., Higashi,M., Eishi,Y., Mizusawa,H. and
            Ishikawa,K.
  TITLE     Abnormal RNA structures (RNA foci) containing a penta-nucleotide
            repeat (UGGAA)n in the Purkinje cell nucleus is associated with
            spinocerebellar ataxia type 31 pathogenesis
  JOURNAL   Neuropathology 33 (6), 600-611 (2013)
   PUBMED   23607545
  REMARK    GeneRIF: we conclude that the RNA foci containing BEAN1-direction
            transcript (UGGAA)n are associated with Purkinje cell degeneration
            in Spinocerebellar ataxia type 31
REFERENCE   3  (bases 1 to 2907)
  AUTHORS   Lee,Y.C., Liu,C.S., Lee,T.Y., Lo,Y.C., Lu,Y.C. and Soong,B.W.
  TITLE     SCA31 is rare in the Chinese population on Taiwan
  JOURNAL   Neurobiol Aging 33 (2), 426 (2012)
   PUBMED   21163552
  REMARK    GeneRIF: Our data indicate that SCA31 is absent or rare in the
            Chinese population on Taiwan.
REFERENCE   4  (bases 1 to 2907)
  AUTHORS   Ishikawa,K., Durr,A., Klopstock,T., Muller,S., De Toffol,B.,
            Vidailhet,M., Vighetto,A., Marelli,C., Wichmann,H.E., Illig,T.,
            Niimi,Y., Sato,N., Amino,T., Stevanin,G., Brice,A. and Mizusawa,H.
  TITLE     Pentanucleotide repeats at the spinocerebellar ataxia type 31
            (SCA31) locus in Caucasians
  JOURNAL   Neurology 77 (20), 1853-1855 (2011)
   PUBMED   22049201
  REMARK    GeneRIF: This study describes the structure of SCA31
            pentanucleotide repeat sequences in a cohort of Caucasian patients
            with spinocerebellar ataxia.
REFERENCE   5  (bases 1 to 2907)
  AUTHORS   Durr,A.
  TITLE     Autosomal dominant cerebellar ataxias: polyglutamine expansions and
            beyond
  JOURNAL   Lancet Neurol 9 (9), 885-894 (2010)
   PUBMED   20723845
  REMARK    Review article
REFERENCE   6  (bases 1 to 2907)
  AUTHORS   Sato,N., Amino,T., Kobayashi,K., Asakawa,S., Ishiguro,T.,
            Tsunemi,T., Takahashi,M., Matsuura,T., Flanigan,K.M., Iwasaki,S.,
            Ishino,F., Saito,Y., Murayama,S., Yoshida,M., Hashizume,Y.,
            Takahashi,Y., Tsuji,S., Shimizu,N., Toda,T., Ishikawa,K. and
            Mizusawa,H.
  TITLE     Spinocerebellar ataxia type 31 is associated with 'inserted'
            penta-nucleotide repeats containing (TGGAA)n
  JOURNAL   Am J Hum Genet 85 (5), 544-557 (2009)
   PUBMED   19878914
  REMARK    GeneRIF: SCA31 is associated with 'inserted' pentanucleotide
            repeats containing (TGGAA)n.
REFERENCE   7  (bases 1 to 2907)
  AUTHORS   Jolliffe,C.N., Harvey,K.F., Haines,B.P., Parasivam,G. and Kumar,S.
  TITLE     Identification of multiple proteins expressed in murine embryos as
            binding partners for the WW domains of the ubiquitin-protein ligase
            Nedd4
  JOURNAL   Biochem J 351 Pt 3 (Pt 3), 557-565 (2000)
   PUBMED   11042109
REFERENCE   8  (bases 1 to 2907)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC132186.3, AB472395.1,
            AB472390.1, BC105723.1 and BM666201.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001178020.2.
            
            Summary: The protein encoded by this gene is one of several
            proteins that interact with NEDD4, a member of a family of
            ubiquitin-protein ligases. These proteins have PY motifs in common
            that bind to the WW domains of NEDD4. NEDD4 is developmentally
            regulated, and is highly expressed in embryonic tissues. Mutations
            in this gene (i.e., intronic insertions of >100 copies of
            pentanucleotide repeats including a (TGGAA)n sequence) are
            associated with spinocerebellar ataxia type 31. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB472390.1, SRR7410570.624659.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147975, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000536005.7/ ENSP00000442793.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC132186.3         99674-99675
            3-355               AB472395.1         1-353
            356-1211            AB472390.1         280-1135
            1212-2343           BC105723.1         965-2096
            2344-2907           BM666201.1         27-590              c
FEATURES             Location/Qualifiers
     source          1..2907
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q21"
     gene            1..2907
                     /gene="BEAN1"
                     /gene_synonym="BEAN; SCA31"
                     /note="brain expressed associated with NEDD4 1"
                     /db_xref="GeneID:146227"
                     /db_xref="HGNC:HGNC:24160"
                     /db_xref="MIM:612051"
     exon            1..137
                     /gene="BEAN1"
                     /gene_synonym="BEAN; SCA31"
                     /inference="alignment:Splign:2.1.0"
     exon            138..244
                     /gene="BEAN1"
                     /gene_synonym="BEAN; SCA31"
                     /inference="alignment:Splign:2.1.0"
     CDS             220..999
                     /gene="BEAN1"
                     /gene_synonym="BEAN; SCA31"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein BEAN1; brain-expressed protein associating with
                     Nedd4 homolog"
                     /codon_start=1
                     /product="protein BEAN1 isoform 1"
                     /protein_id="NP_001171491.1"
                     /db_xref="CCDS:CCDS54015.1"
                     /db_xref="GeneID:146227"
                     /db_xref="HGNC:HGNC:24160"
                     /db_xref="MIM:612051"
                     /translation="MSFKRPCPLARYNRTSYFYPTFSESSEHSHLLVSPVLVASAVIG
                     VVIILSCITIIVGSIRRDRQARLQRHRHRHHRHHHHHHHHRRRRHREYEHGYVSDEHT
                     YSRSSRRMRYACSSSEDWPPPLDISSDGDVDATVLRELYPDSPPGYEECVGPGATQLY
                     VPTDAPPPYSLTDSCPTLDGTSDSGSGHSPGRHQQEQRTPAQGGLHTVSMDTLPPYEA
                     VCGAGPPSGLLPLPGPDPGPRGSQGSPTPTRAPASGPERIV"
     exon            245..508
                     /gene="BEAN1"
                     /gene_synonym="BEAN; SCA31"
                     /inference="alignment:Splign:2.1.0"
     exon            509..659
                     /gene="BEAN1"
                     /gene_synonym="BEAN; SCA31"
                     /inference="alignment:Splign:2.1.0"
     exon            660..2907
                     /gene="BEAN1"
                     /gene_synonym="BEAN; SCA31"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2878..2883
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BEAN1"
                     /gene_synonym="BEAN; SCA31"
                     /note="hexamer: AATAAA"
     polyA_site      2907
                     /gene="BEAN1"
                     /gene_synonym="BEAN; SCA31"
                     /note="major polyA site"
ORIGIN      
        1 gcgacgcccg agcccgagcg cagtggcctc cgagcgggaa ccggactggg agccggagcc
       61 ggggcgggaa ccggagctgg agccgaagct ggagccggca ctgcggcgca cggagcggag
      121 cgctgcagcc aagccgagtg agtggagggg ccttccctgc gagaagtcag agctgtgccc
      181 gtgggcaggc tggctccgct gttctgctcc aaggattaca tgtccttcaa acgtccctgc
      241 cccttagcac gatacaaccg caccagctac ttctacccca cattctcaga gagctcggag
      301 cacagccatc tgctcgtgtc ccccgtgctg gtggcgagtg ccgtcatagg tgtggtcatc
      361 atcctctcct gcatcaccat cattgtgggc agcatccgca gggacaggca ggcccggctt
      421 cagcggcacc gccaccgcca ccaccgccac caccaccacc atcatcacca ccgccggcgt
      481 cgacaccgag agtacgagca cggctacgtg tcggacgagc acacatacag ccgctcaagc
      541 cgcaggatgc gctatgcctg cagctcctca gaggactggc ccccaccctt ggacatcagc
      601 tctgacgggg acgtggatgc cacggtgctc agggagctgt acccagattc tccaccaggc
      661 tacgaggagt gtgtggggcc aggggccact cagctgtatg tccccacgga cgcaccacca
      721 ccctactcgc tgactgattc ctgccccacg ctggatggca cctccgactc aggcagcggc
      781 cacagccctg gccgacacca gcaggagcag aggaccccgg cccaaggtgg ccttcacacg
      841 gtctccatgg acacccttcc cccctacgag gctgtgtgcg gggctggccc cccatcaggc
      901 ctgctgccac tgccgggccc agacccaggg ccaaggggct cccagggctc acccacccca
      961 acccgggccc cagcctctgg cccagagagg attgtgtgag ggacccagcc agccgggtcc
     1021 tgctggtccc tacaggctga accacattct ttaggcacac aaaggcgtgc acacacacac
     1081 agagatgcac acgtgactca taacacacac atagaccaaa cttgtataca cacagacatc
     1141 tacactgaca taccccatgt acacacacag atctagacgt gctccacata tgtgtgaata
     1201 tgcgcacata caggcctacc acaaacacaa aacccacctg caaaggtttc acggaacgtg
     1261 gagctctcct ggcctcccgt ccctcctccc ggcctgtttg ttgtgcctct gtagagagcg
     1321 cttcggagag agaggcgaag taggaagtgg gattttctct tccctctcct gggcccgttt
     1381 gcccctaccc tcgcccagca agctgcgccc aaattctatt ctgcctctgg aaactgctgg
     1441 accatccaag gtcagctgcc tgccctgacc cctaccccag ggccagcttg tcctcctggg
     1501 aggcgggaca ggccccagtg aggttccgtt gtgcgctgtg cctatctctc gattccaggg
     1561 cagatgagcc acaacatcac caccctgcca cttacaaggt gggggacctg ggtctggggt
     1621 ctcaggcgca aactggaggc cctcacagcc cactaggccc cctcccaacc ccagtaccct
     1681 cagtccctca gtcaggtggt gctagtagag ctatctctga cgctgcaggc cccaggtaga
     1741 tgggcagggc cctccgtggg tgtgcagcgg cggttccctc atcagtccag ccactgccca
     1801 ggactaaggg tcttcaagga agatgaggcc attgcccttc tccaggtggc ttcaccacag
     1861 tgctgcctgg gcacctctct gaggcagaga agtggcccct ccctcagtcc ctgcctggcc
     1921 gaccactgtg gcctgcacgc gaatgggtca gagccagacc ccggagctgg tgctgtcctt
     1981 ctaggtggct gctcatagct ggggatggtg agtggctgtg ttctggcctt gcccacgtgg
     2041 gtgtttgcag agacaaaatg aaggggatat gctccccata aataccacct tgccaccaca
     2101 agaggaccag aaggctactc agccttgctg ccacagaagg ggatttgtag ggtcagcctg
     2161 gctgcagaaa ggctggctca gatcttgacc aagaaacccc agcgatttcc atcaaagacc
     2221 acgcaggtaa cagaggtgat tcctgaagac ccagcccaca gagggtggca gccaagcatc
     2281 tctgagcagt gtccctgcta gcatcgccag cggccatcac tctgcctccc tcccacctct
     2341 tgtccctcgt cgttaaaaaa cagcacccta tcctgcttcc ccacatttct gttcctccaa
     2401 tgaagggcta agactattta gtaatctctt tcttaagcag aggagtggca aggatggcaa
     2461 tcttgaattt tattttctgt agagatagca tttcttctgg tgcggagctg aaaggaatcc
     2521 acccagaagt tctgtagcat cctgcgtgca gcctcctgga gccccagact ccatctgggg
     2581 gagggacttg tttacaagca gttctgacca ccttagtggt gtactgtttt ctaggcaaaa
     2641 aatatctgtc tgttgtactg tatagccttt aaaatgcagt ccaggaatga gactctttta
     2701 agaaacacat cctgcttctg caattccaga gagtgctggg ggaaaaaaag ggataaaaat
     2761 tcctacctac tcatcagtgt ttgaaagatg gagctgaata gcttttcttg ttcctggact
     2821 aggcaatgaa taagcaacaa tgtatctttt ctgtgttcaa aataaataca taatatcaat
     2881 aaaatgtagc aagaagtaac actttca
//
