LOCUS       NM_001393339            1225 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens cell death inducing DFFA like effector b (CIDEB),
            transcript variant 8, mRNA.
ACCESSION   NM_001393339
VERSION     NM_001393339.1
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 1225)
  AUTHORS   Verweij,N., Haas,M.E., Nielsen,J.B., Sosina,O.A., Kim,M.,
            Akbari,P., De,T., Hindy,G., Bovijn,J., Persaud,T., Miloscio,L.,
            Germino,M., Panagis,L., Watanabe,K., Mbatchou,J., Jones,M.,
            LeBlanc,M., Balasubramanian,S., Lammert,C., Enhorning,S.,
            Melander,O., Carey,D.J., Still,C.D., Mirshahi,T., Rader,D.J.,
            Parasoglou,P., Walls,J.R., Overton,J.D., Reid,J.G., Economides,A.,
            Cantor,M.N., Zambrowicz,B., Murphy,A.J., Abecasis,G.R.,
            Ferreira,M.A.R., Smagris,E., Gusarova,V., Sleeman,M.,
            Yancopoulos,G.D., Marchini,J., Kang,H.M., Karalis,K.,
            Shuldiner,A.R., Della Gatta,G., Locke,A.E., Baras,A. and Lotta,L.A.
  TITLE     Germline Mutations in CIDEB and Protection against Liver Disease
  JOURNAL   N Engl J Med 387 (4), 332-344 (2022)
   PUBMED   35939579
  REMARK    GeneRIF: Germline Mutations in CIDEB and Protection against Liver
            Disease.
REFERENCE   2  (bases 1 to 1225)
  AUTHORS   Ping,Z., Guo,Z., Lu,M., Chen,Y. and Liu,L.
  TITLE     Association of CIDEB gene promoter methylation with overweight or
            obesity in adults
  JOURNAL   Aging (Albany NY) 14 (8), 3607-3616 (2022)
   PUBMED   35475772
  REMARK    GeneRIF: Association of CIDEB gene promoter methylation with
            overweight or obesity in adults.
REFERENCE   3  (bases 1 to 1225)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1225)
  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   5  (bases 1 to 1225)
  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   6  (bases 1 to 1225)
  AUTHORS   Erdtmann,L., Franck,N., Lerat,H., Le Seyec,J., Gilot,D., Cannie,I.,
            Gripon,P., Hibner,U. and Guguen-Guillouzo,C.
  TITLE     The hepatitis C virus NS2 protein is an inhibitor of CIDE-B-induced
            apoptosis
  JOURNAL   J Biol Chem 278 (20), 18256-18264 (2003)
   PUBMED   12595532
REFERENCE   7  (bases 1 to 1225)
  AUTHORS   Liang,L., Zhao,M., Xu,Z., Yokoyama,K.K. and Li,T.
  TITLE     Molecular cloning and characterization of CIDE-3, a novel member of
            the cell-death-inducing DNA-fragmentation-factor (DFF45)-like
            effector family
  JOURNAL   Biochem J 370 (Pt 1), 195-203 (2003)
   PUBMED   12429024
REFERENCE   8  (bases 1 to 1225)
  AUTHORS   Chen,Z., Guo,K., Toh,S.Y., Zhou,Z. and Li,P.
  TITLE     Mitochondria localization and dimerization are required for CIDE-B
            to induce apoptosis
  JOURNAL   J Biol Chem 275 (30), 22619-22622 (2000)
   PUBMED   10837461
REFERENCE   9  (bases 1 to 1225)
  AUTHORS   Lugovskoy,A.A., Zhou,P., Chou,J.J., McCarty,J.S., Li,P. and
            Wagner,G.
  TITLE     Solution structure of the CIDE-N domain of CIDE-B and a model for
            CIDE-N/CIDE-N interactions in the DNA fragmentation pathway of
            apoptosis
  JOURNAL   Cell 99 (7), 747-755 (1999)
   PUBMED   10619428
REFERENCE   10 (bases 1 to 1225)
  AUTHORS   Inohara,N., Koseki,T., Chen,S., Wu,X. and Nunez,G.
  TITLE     CIDE, a novel family of cell death activators with homology to the
            45 kDa subunit of the DNA fragmentation factor
  JOURNAL   EMBO J 17 (9), 2526-2533 (1998)
   PUBMED   9564035
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL096870.5.
            
            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 :: AF544398.1, AF218586.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000554411.6/ ENSP00000451089.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-160               AL096870.5         81978-82137
            161-305             AL096870.5         82440-82584
            306-455             AL096870.5         83432-83581
            456-646             AL096870.5         83818-84008
            647-1225            AL096870.5         84190-84768
FEATURES             Location/Qualifiers
     source          1..1225
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..1225
                     /gene="CIDEB"
                     /note="cell death inducing DFFA like effector b"
                     /db_xref="GeneID:27141"
                     /db_xref="HGNC:HGNC:1977"
                     /db_xref="MIM:604441"
     exon            1..160
                     /gene="CIDEB"
                     /inference="alignment:Splign:2.1.0"
     CDS             120..779
                     /gene="CIDEB"
                     /note="isoform 1 is encoded by transcript variant 8; cell
                     death activator CIDE-B; lipid transferase CIDEB"
                     /codon_start=1
                     /product="lipid transferase CIDEB isoform 1"
                     /protein_id="NP_001380268.1"
                     /db_xref="CCDS:CCDS32056.1"
                     /db_xref="GeneID:27141"
                     /db_xref="HGNC:HGNC:1977"
                     /db_xref="MIM:604441"
                     /translation="MEYLSALNPSDLLRSVSNISSEFGRRVWTSAPPPQRPFRVCDHK
                     RTIRKGLTAATRQELLAKALETLLLNGVLTLVLEEDGTAVDSEDFFQLLEDDTCLMVL
                     QSGQSWSPTRSGVLSYGLGRERPKHSKDIARFTFDVYKQNPRDLFGSLNVKATFYGLY
                     SMSCDFQGLGPKKVLRELLRWTSTLLQGLGHMLLGISSTLRHAVEGAEQWQQKGRLHS
                     Y"
     exon            161..305
                     /gene="CIDEB"
                     /inference="alignment:Splign:2.1.0"
     exon            306..455
                     /gene="CIDEB"
                     /inference="alignment:Splign:2.1.0"
     exon            456..646
                     /gene="CIDEB"
                     /inference="alignment:Splign:2.1.0"
     exon            647..1225
                     /gene="CIDEB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1198..1203
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIDEB"
                     /note="hexamer: AATAAA"
     polyA_site      1221
                     /gene="CIDEB"
                     /note="major polyA site"
ORIGIN      
        1 attcccacct tgtcctgggc tgagatccca ggtttgtaac agaaaacacc actaaagccc
       61 cagcacagga gagaaccacc cagcccagaa gttccaggga aggaactctc cggtccacca
      121 tggagtacct ctcagctctg aaccccagtg acttactcag gtcagtatct aatataagct
      181 cggagtttgg acggagggtc tggacctcag ctccaccacc ccagcgacct ttccgtgtct
      241 gtgatcacaa gcggaccatc cggaaaggcc tgacagctgc cacccgccag gagctgctag
      301 ccaaagcatt ggagacccta ctgctgaatg gagtgctaac cctggtgcta gaggaggatg
      361 gaactgcagt ggacagtgag gacttcttcc agctgctgga ggatgacacg tgcctgatgg
      421 tgttgcagtc tggtcagagc tggagcccta caaggagtgg agtgctgtca tatggcctgg
      481 gacgggagag gcccaagcac agcaaggaca tcgcccgatt cacctttgac gtgtacaagc
      541 aaaaccctcg agacctcttt ggcagcctga atgtcaaagc cacattctac gggctctact
      601 ctatgagttg tgactttcaa ggacttggcc caaagaaagt actcagggag ctccttcgtt
      661 ggacctccac actgctgcaa ggcctgggcc atatgttgct gggaatttcc tccacccttc
      721 gtcatgcagt ggagggggct gagcagtggc agcagaaggg ccgcctccat tcctactaag
      781 gggctctgag cttctgcccc cagaatcatt ccaaccgacc cactgcaaag actatgacag
      841 catcaaattt caggacctgc agacagtaca ggctagataa cccacccaat ttccccactg
      901 tcctctgatc ccctcgtgac agaacctttc agcataacgc ctcacatccc aagtctatac
      961 ccttacctga agaatgctgt tctttcctag ccacctttct ggcctcccac ttgccctgaa
     1021 aggccaagat caagatgtcc cccaggcatc ttgatcccag cctgactgct gctacatcta
     1081 atcccctacc aatgcctcct gtccctaaac tccccagcat actgatgaca gccctctctg
     1141 actttacctt gagatctgtc ttcataccct tcccctcaaa ctaacaaaaa catttccaat
     1201 aaaaatatca aatatttacc actaa
//
