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Homo sapiens BEN domain containing 5 (BEND5), transcript variant 2, mRNA

NCBI Reference Sequence: NM_001302082.2

FASTA Graphics 

LOCUS       NM_001302082            1775 bp    mRNA    linear   PRI 10-JUN-2024
DEFINITION  Homo sapiens BEN domain containing 5 (BEND5), transcript variant 2,
            mRNA.
ACCESSION   NM_001302082 XM_005271199
VERSION     NM_001302082.2
KEYWORDS    RefSeq.
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 1775)
  AUTHORS   Shi,Y., Zhang,D., Chen,J., Jiang,Q., Song,S., Mi,Y., Wang,T. and
            Ye,Q.
  TITLE     Interaction between BEND5 and RBPJ suppresses breast cancer growth
            and metastasis via inhibiting Notch signaling
  JOURNAL   Int J Biol Sci 18 (10), 4233-4244 (2022)
   PUBMED   35844785
  REMARK    GeneRIF: Interaction between BEND5 and RBPJ suppresses breast
            cancer growth and metastasis via inhibiting Notch signaling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1775)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1775)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (bases 1 to 1775)
  AUTHORS   Corominas,R., Yang,X., Lin,G.N., Kang,S., Shen,Y., Ghamsari,L.,
            Broly,M., Rodriguez,M., Tam,S., Wanamaker,S.A., Fan,C., Yi,S.,
            Tasan,M., Lemmens,I., Kuang,X., Zhao,N., Malhotra,D.,
            Michaelson,J.J., Vacic,V., Calderwood,M.A., Roth,F.P.,
            Tavernier,J., Horvath,S., Salehi-Ashtiani,K., Korkin,D., Sebat,J.,
            Hill,D.E., Hao,T., Vidal,M. and Iakoucheva,L.M.
  TITLE     Protein interaction network of alternatively spliced isoforms from
            brain links genetic risk factors for autism
  JOURNAL   Nat Commun 5, 3650 (2014)
   PUBMED   24722188
  REMARK    Erratum:[Nat Commun. 2023 Feb 2;14(1):569. doi:
            10.1038/s41467-023-36264-y. PMID: 36732511]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1775)
  AUTHORS   Dai,Q., Ren,A., Westholm,J.O., Serganov,A.A., Patel,D.J. and
            Lai,E.C.
  TITLE     The BEN domain is a novel sequence-specific DNA-binding domain
            conserved in neural transcriptional repressors
  JOURNAL   Genes Dev 27 (6), 602-614 (2013)
   PUBMED   23468431
REFERENCE   6  (bases 1 to 1775)
  AUTHORS   Wistow,G., Bernstein,S.L., Ray,S., Wyatt,M.K., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of adult human iris for the NEIBank
            Project: steroid-response factors and similarities with retinal
            pigment epithelium
  JOURNAL   Mol Vis 8, 185-195 (2002)
   PUBMED   12107412
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1775)
  AUTHORS   Bussow,K., Cahill,D., Nietfeld,W., Bancroft,D., Scherzinger,E.,
            Lehrach,H. and Walter,G.
  TITLE     A method for global protein expression and antibody screening on
            high-density filters of an arrayed cDNA library
  JOURNAL   Nucleic Acids Res 26 (21), 5007-5008 (1998)
   PUBMED   9776767
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC007932.2, AK021650.1, CD579580.2, BX096297.1 and AC097062.2.
            
            On Aug 13, 2020 this sequence version replaced NM_001302082.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            at an internal exon, and initiates translation at a downstream
            start codon, compared to variant 1. The encoded isoform (2) has a
            shorter N-terminus compared to isoform 1. Variants 2, 3, and 4 all
            encode the same isoform (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: KU178777.1, AK021650.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2153031
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-60                BC007932.2         31-90
            61-874              AK021650.1         1-814
            875-875             CD579580.2         696-696
            876-1423            BC007932.2         824-1371
            1424-1571           BX096297.1         46-193
            1572-1572           AC097062.2         48673-48673         c
            1573-1771           BX096297.1         195-393
            1772-1775           AC097062.2         48470-48473         c
FEATURES             Location/Qualifiers
     source          1..1775
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p33"
     gene            1..1775
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
                     /note="BEN domain containing 5"
                     /db_xref="GeneID:79656"
                     /db_xref="HGNC:HGNC:25668"
     exon            1..286
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
                     /inference="alignment:Splign:2.1.0"
     exon            287..420
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
                     /inference="alignment:Splign:2.1.0"
     exon            421..887
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    476..478
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
                     /note="upstream in-frame stop codon"
     CDS             650..1408
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
                     /note="isoform 2 is encoded by transcript variant 2; BEN
                     domain-containing protein 5"
                     /codon_start=1
                     /product="BEN domain-containing protein 5 isoform 2"
                     /protein_id="NP_001289011.1"
                     /db_xref="GeneID:79656"
                     /db_xref="HGNC:HGNC:25668"
                     /translation="MDSLEDAVVPRALYEELLRNYQQQQEEMRHLQQELERTRRQLVQ
                     QAKKLKEYGALVSEMKELRDLNRRLQDVLLLRLGSGPAIDLEKVKSECLEPEPELRST
                     FSEEANTSSYYPAPAPVMDKYILDNGKVHLGSGIWVDEEKWHQLQVTQGDSKYTKNLA
                     VMIWGTDVLKNRSVTGVATKKKKDAVPKPPLSPHKLSIVRECLYDRIAQETVDETEIA
                     QRLSKVNKYICEKIMDINKSCKNEERREAKYNLQ"
     exon            888..1036
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1250
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1775
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1404..1409
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
                     /note="hexamer: AATAAA"
     polyA_site      1427
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
                     /note="major polyA site"
     regulatory      1748..1753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
                     /note="hexamer: AATAAA"
     polyA_site      1775
                     /gene="BEND5"
                     /gene_synonym="C1orf165"
ORIGIN      
        1 acctccgcgc ccgccccgcg ggctgagctg cccgaccggg gcccgccccc ggcgcccacc
       61 atgtacgcct ttgtgcggtt cctggaggac aacgtctgct acgcgctgcc cgtgtcgtgc
      121 gtgcgcgact tcagcccccg ctcgcggctg gattttgaca accagaaggt gtacgccgtg
      181 taccggggcc cggaggaatt gggcgccggg cccgagagcc ccccgcgcgc cccccgcgac
      241 tggggcgcgc tgttgctcca caaggcccag atcctggcgc tggcagaaga caaatctgac
      301 cttgaaaaca gtgtgatgca gaagaaaata aaaatcccca agctttctct taatcatgta
      361 gaagaagatg gagaggttaa agattatggg gaagaagatt tacagcttag acacatcaag
      421 gattgtctgg ggaaatattg atctgcagtc caagaaaatc ccagctgccc ttgcctgaac
      481 tgattctcgt tgtcctacac agagacctga ggggcggaag ccgagcgaag tggcgcacaa
      541 gagcatcgag gcagtggtgg ctcggctaga gaagcagaac ggcctgagcc tgggccatag
      601 cacgtgtccg gaagaggtct tcgtggaggc ctcgccaggc acagaggaca tggacagtct
      661 agaagatgct gtggtgcccc gggctctgta tgaggagctg ctgcgcaact accagcagca
      721 acaggaagag atgcgccacc tccagcagga gctggagcgg actcggaggc agctggtaca
      781 acaggccaag aagctcaagg agtacggggc acttgtgtct gaaatgaagg agctccgtga
      841 ccttaaccgg aggctccagg acgtgctgct cctgcggctt ggcagcggtc ccgccattga
      901 tctggaaaaa gtaaagtcag aatgtctcga gcccgagccg gagttacgga gcactttcag
      961 tgaggaagca aatacgtcgt cctattaccc cgctcctgcg cctgtcatgg acaagtatat
     1021 cctagacaat ggcaaggtcc atctgggaag cgggatttgg gttgatgagg agaaatggca
     1081 ccagctacaa gtaacccaag gagattccaa gtacacgaag aacttggcag ttatgatttg
     1141 gggaacagat gttctgaaaa acagaagcgt cacaggcgtc gccacaaaaa aaaagaaaga
     1201 tgcagtccct aaaccacccc tctcgcctca caaactaagc atcgtcagag agtgtttgta
     1261 tgacagaata gcacaagaaa ctgtggatga aactgaaatt gcacagagac tctccaaagt
     1321 caacaagtac atctgtgaaa aaatcatgga tatcaataaa tcctgtaaaa atgaagaacg
     1381 aagggaagca aaatacaatt tgcaataaac tttggatttt tcataaagct ttcgtgtttt
     1441 ccttgtgtgg catgtgattt gcgagcgatg gtgccgtcca aatcagaccc caccgtgcat
     1501 ggtggtgtgt gtgcagggat ccatcgggtt ctggggtcag cggcttgttc tgaatgtgga
     1561 cactccaaag acgacagatg gctttgctga gactcaggag cagcctggca ctggtgtcct
     1621 tctgggaatg gggaaaacac tcttcttgga gggggataag gttgcctgag ttgcctgtca
     1681 cttgactggg gtttgaatgg atatttttac tatccaagga cttctttgtt gctctatttt
     1741 gttctataat aaattttcat taattctttg atgta
//
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