LOCUS       NM_001199623            1196 bp    mRNA    linear   PRI 10-JUN-2024
DEFINITION  Homo sapiens cell death inducing DFFA like effector c (CIDEC),
            transcript variant 1, mRNA.
ACCESSION   NM_001199623
VERSION     NM_001199623.2
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 1196)
  AUTHORS   Fang,M., Liu,X., Xu,W., Wang,X., Xu,L., Zhao,T.J., Li,P. and
            Yang,H.
  TITLE     Paxillin family proteins Hic-5 and LPXN promote lipid storage by
            regulating the ubiquitination degradation of CIDEC
  JOURNAL   J Biol Chem 300 (2), 105610 (2024)
   PUBMED   38159847
  REMARK    GeneRIF: Paxillin family proteins Hic-5 and LPXN promote lipid
            storage by regulating the ubiquitination degradation of CIDEC.
REFERENCE   2  (bases 1 to 1196)
  AUTHORS   Kim,S., Stockwell,A., Qin,H., Gao,S.S., Sagolla,M., Stoilov,I.,
            Wuster,A., Lai,P., Yaspan,B.L. and Jeanne,M.
  TITLE     Rare CIDEC coding variants enriched in age-related macular
            degeneration patients with small low-luminance deficit cause lipid
            droplet and fat storage defects
  JOURNAL   PLoS One 18 (4), e0280484 (2023)
   PUBMED   37079518
  REMARK    GeneRIF: Rare CIDEC coding variants enriched in age-related macular
            degeneration patients with small low-luminance deficit cause lipid
            droplet and fat storage defects.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1196)
  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   4  (bases 1 to 1196)
  AUTHORS   Su,X., Weng,S. and Peng,D.
  TITLE     New Insights into Apolipoprotein A5 and the Modulation of Human
            Adipose-derived Mesenchymal Stem Cells Adipogenesis
  JOURNAL   Curr Mol Med 20 (2), 144-156 (2020)
   PUBMED   31560287
  REMARK    GeneRIF: New Insights into Apolipoprotein A5 and the Modulation of
            Human Adipose-derived Mesenchymal Stem Cells Adipogenesis.
REFERENCE   5  (bases 1 to 1196)
  AUTHORS   Karki,S., Farb,M.G., Sharma,V.M., Jash,S., Zizza,E.J., Hess,D.T.,
            Carmine,B., Carter,C.O., Pernar,L.I., Apovian,C.M., Puri,V. and
            Gokce,N.
  TITLE     Fat-Specific Protein 27 Regulation of Vascular Function in Human
            Obesity
  JOURNAL   J Am Heart Assoc 8 (11), e011431 (2019)
   PUBMED   31433737
  REMARK    GeneRIF: Fat-Specific Protein 27 Regulation of Vascular Function in
            Human Obesity.
REFERENCE   6  (bases 1 to 1196)
  AUTHORS   Puri,V., Ranjit,S., Konda,S., Nicoloro,S.M., Straubhaar,J.,
            Chawla,A., Chouinard,M., Lin,C., Burkart,A., Corvera,S.,
            Perugini,R.A. and Czech,M.P.
  TITLE     Cidea is associated with lipid droplets and insulin sensitivity in
            humans
  JOURNAL   Proc Natl Acad Sci U S A 105 (22), 7833-7838 (2008)
   PUBMED   18509062
REFERENCE   7  (bases 1 to 1196)
  AUTHORS   Wu,C., Zhang,Y., Sun,Z. and Li,P.
  TITLE     Molecular evolution of Cide family proteins: novel domain formation
            in early vertebrates and the subsequent divergence
  JOURNAL   BMC Evol Biol 8, 159 (2008)
   PUBMED   18500987
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1196)
  AUTHORS   Keller,P., Petrie,J.T., De Rose,P., Gerin,I., Wright,W.S.,
            Chiang,S.H., Nielsen,A.R., Fischer,C.P., Pedersen,B.K. and
            MacDougald,O.A.
  TITLE     Fat-specific protein 27 regulates storage of triacylglycerol
  JOURNAL   J Biol Chem 283 (21), 14355-14365 (2008)
   PUBMED   18334488
  REMARK    GeneRIF: FSP27 binds to lipid droplets and regulates their
            enlargement
REFERENCE   9  (bases 1 to 1196)
  AUTHORS   Puri,V., Virbasius,J.V., Guilherme,A. and Czech,M.P.
  TITLE     RNAi screens reveal novel metabolic regulators: RIP140, MAP4k4 and
            the lipid droplet associated fat specific protein (FSP) 27
  JOURNAL   Acta Physiol (Oxf) 192 (1), 103-115 (2008)
   PUBMED   18171433
  REMARK    Review article
REFERENCE   10 (bases 1 to 1196)
  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
  REMARK    GeneRIF: cloning and characterization as a member of the
            cell-death-inducing DNA-fragmentation-factor (DFF45)-like effector
            family
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL598630.1, BC016851.1 and
            AC018809.5.
            
            On Aug 13, 2020 this sequence version replaced NM_001199623.1.
            
            Summary: This gene encodes a member of the cell death-inducing DNA
            fragmentation factor-like effector family. Members of this family
            play important roles in apoptosis. The encoded protein promotes
            lipid droplet formation in adipocytes and may mediate adipocyte
            apoptosis. This gene is regulated by insulin and its expression is
            positively correlated with insulin sensitivity. Mutations in this
            gene may contribute to insulin resistant diabetes. A pseudogene of
            this gene is located on the short arm of chromosome 3.
            Alternatively spliced transcript variants that encode different
            isoforms have been observed for this gene. [provided by RefSeq, Dec
            2010].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: BC016851.1, SRR11853562.22784.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-92                AL598630.1         2-93
            93-1068             BC016851.1         69-1044
            1069-1069           AC018809.5         112248-112248
            1070-1196           BC016851.1         1046-1172
FEATURES             Location/Qualifiers
     source          1..1196
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..1196
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /note="cell death inducing DFFA like effector c"
                     /db_xref="GeneID:63924"
                     /db_xref="HGNC:HGNC:24229"
                     /db_xref="MIM:612120"
     exon            1..34
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..776
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /note="isoform 1 is encoded by transcript variant 1; fat
                     specific protein 27; cell death activator CIDE-3; lipid
                     transferase CIDEC"
                     /codon_start=1
                     /product="lipid transferase CIDEC isoform 1"
                     /protein_id="NP_001186552.1"
                     /db_xref="CCDS:CCDS74897.1"
                     /db_xref="GeneID:63924"
                     /db_xref="HGNC:HGNC:24229"
                     /db_xref="MIM:612120"
                     /translation="MRNMESNAVQLTRMEYAMKSLSLLYPKSLSRHVSVRTSVVTQQL
                     LSEPSPKAPRARPCRVSTADRSVRKGIMAYSLEDLLLKVRDTLMLADKPFFLVLEEDG
                     TTVETEEYFQALAGDTVFMVLQKGQKWQPPSEQGTRHPLSLSHKPAKKIDVARVTFDL
                     YKLNPQDFIGCLNVKATFYDTYSLSYDLHCCGAKRIMKEAFRWALFSMQATGHVLLGT
                     SCYLQQLLDATEEGQPPKGKASSLIPTCLKILQ"
     exon            35..112
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     exon            113..266
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     exon            267..425
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     exon            426..613
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     exon            614..1196
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1178..1183
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /note="hexamer: AATAAA"
     polyA_site      1196
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /note="major polyA site"
ORIGIN      
        1 agtgtgacca gagccagggg atgagaaaca tggagtccaa cgcagtccag ctgacaagga
       61 tggaatacgc catgaagtcc cttagccttc tctaccccaa gtccctctcc aggcatgtgt
      121 cagtgcgtac ctctgtggtg acccagcagc tgctgtcgga gcccagcccc aaggccccca
      181 gggcccggcc ctgccgcgta agcacggcgg atcgaagcgt gaggaagggc atcatggctt
      241 acagtcttga ggacctcctc ctcaaggtcc gggacactct gatgctggca gacaagccct
      301 tcttcctggt gctggaggaa gatggcacaa ctgtagagac agaagagtac ttccaagccc
      361 tggcagggga tacagtgttc atggtcctcc agaaggggca gaaatggcag cccccatcag
      421 aacaggggac aaggcaccca ctgtccctct cccataagcc tgccaagaag attgatgtgg
      481 cccgtgtaac gtttgatctg tacaagctga acccacagga cttcattggc tgcctgaacg
      541 tgaaggcgac tttttatgat acatactccc tttcctatga tctgcactgc tgtggggcca
      601 agcgcatcat gaaggaagct ttccgctggg ccctcttcag catgcaggcc acaggccacg
      661 tactgcttgg cacctcctgt tacctgcagc agctcctcga tgctacggag gaagggcagc
      721 cccccaaggg caaggcctca tcccttatcc cgacctgtct gaagatactg cagtgaaagc
      781 ccaagtcctt ggaagctttc cccagtgaag gactgactgg gggcctcacg cttaactggt
      841 agtgcccaca agcctggcag ctgtagagcc gcgaacctcc ccacacctcc ctcaccgcgc
      901 aggaccctga gtgaggagga ggagctggaa acctggggtg ggttggccaa aggagaacct
      961 caagctcctg gcctgatcca gctccttcct gcccaaggca gcttagccca tccagactgg
     1021 tcctgaagtc tgtccctcca ttggcatgaa gtctgcccct tagcaatctg gcctcgcagg
     1081 ctgtactttc atggtgctct ctaccttctg gcccccatcc cggaacattc ctgagtgaat
     1141 tcgcaagcgc actagcatgt gatattaggg agtttgcaat aaattattga ggctga
//
