LOCUS       NM_001321142            1305 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens cell death inducing DFFA like effector c (CIDEC),
            transcript variant 5, mRNA.
ACCESSION   NM_001321142 XM_005265374
VERSION     NM_001321142.2
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 1305)
  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 1305)
  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 1305)
  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 1305)
  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 1305)
  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 1305)
  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 1305)
  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 1305)
  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 1305)
  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 1305)
  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 AL598731.1, BQ695178.1,
            CD518776.1, AK024524.1, AF303893.1, AI460316.1 and BC016851.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001321142.1.
            
            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].
            
            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 :: ERR279863.2253.1,
                                           SRR5189667.260686.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2153980
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336832.7/ ENSP00000338642.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AL598731.1         2-14
            14-263              BQ695178.1         1-250
            264-817             CD518776.1         237-790
            818-953             AK024524.1         549-684
            954-1177            AF303893.1         926-1149
            1178-1178           AI460316.1         137-137             c
            1179-1305           BC016851.1         1046-1172
FEATURES             Location/Qualifiers
     source          1..1305
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..1305
                     /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..30
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     exon            31..143
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     exon            144..221
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     CDS             169..885
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /note="isoform 3 is encoded by transcript variant 5; fat
                     specific protein 27; cell death activator CIDE-3; lipid
                     transferase CIDEC"
                     /codon_start=1
                     /product="lipid transferase CIDEC isoform 3"
                     /protein_id="NP_001308071.1"
                     /db_xref="CCDS:CCDS2587.1"
                     /db_xref="GeneID:63924"
                     /db_xref="HGNC:HGNC:24229"
                     /db_xref="MIM:612120"
                     /translation="MEYAMKSLSLLYPKSLSRHVSVRTSVVTQQLLSEPSPKAPRARP
                     CRVSTADRSVRKGIMAYSLEDLLLKVRDTLMLADKPFFLVLEEDGTTVETEEYFQALA
                     GDTVFMVLQKGQKWQPPSEQGTRHPLSLSHKPAKKIDVARVTFDLYKLNPQDFIGCLN
                     VKATFYDTYSLSYDLHCCGAKRIMKEAFRWALFSMQATGHVLLGTSCYLQQLLDATEE
                     GQPPKGKASSLIPTCLKILQ"
     exon            222..375
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     exon            376..534
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     exon            535..722
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     exon            723..1305
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1287..1292
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /note="hexamer: AATAAA"
     polyA_site      1305
                     /gene="CIDEC"
                     /gene_synonym="CIDE-3; CIDE3; FPLD5; FSP27"
                     /note="major polyA site"
ORIGIN      
        1 gcagtatttc caggaggctg tgagggggag aatgttcttt tggccactgt gaagcctcag
       61 gaaggggctc ggattgctca aggacccatg ggagagagga ggctttgact gggctgcctg
      121 cctgtgaggt ctctggacta gaggtccaac gcagtccagc tgacaaggat ggaatacgcc
      181 atgaagtccc ttagccttct ctaccccaag tccctctcca ggcatgtgtc agtgcgtacc
      241 tctgtggtga cccagcagct gctgtcggag cccagcccca aggcccccag ggcccggccc
      301 tgccgcgtaa gcacggcgga tcgaagcgtg aggaagggca tcatggctta cagtcttgag
      361 gacctcctcc tcaaggtccg ggacactctg atgctggcag acaagccctt cttcctggtg
      421 ctggaggaag atggcacaac tgtagagaca gaagagtact tccaagccct ggcaggggat
      481 acagtgttca tggtcctcca gaaggggcag aaatggcagc ccccatcaga acaggggaca
      541 aggcacccac tgtccctctc ccataagcct gccaagaaga ttgatgtggc ccgtgtaacg
      601 tttgatctgt acaagctgaa cccacaggac ttcattggct gcctgaacgt gaaggcgact
      661 ttttatgata catactccct ttcctatgat ctgcactgct gtggggccaa gcgcatcatg
      721 aaggaagctt tccgctgggc cctcttcagc atgcaggcca caggccacgt actgcttggc
      781 acctcctgtt acctgcagca gctcctcgat gctacggagg aagggcagcc ccccaagggc
      841 aaggcctcat cccttatccc gacctgtctg aagatactgc agtgaaagcc caagtccttg
      901 gaagctttcc ccagtgaagg actgactggg ggcctcacgc ttaactggta gtgcccacaa
      961 gcctggcagc tgtagagccg cgaacctccc cacacctccc tcaccgcgca ggaccctgag
     1021 tgaggaggag gagctggaaa cctggggtgg gttggccaaa ggagaacctc aagctcctgg
     1081 cctgatccag ctccttcctg cccaaggcag cttagcccat ccagactggt cctgaagtct
     1141 gtccctccat tggcatgaag tctgcccctt agcaatctgg cctcgcaggc tgtactttca
     1201 tggtgctctc taccttctgg cccccatccc ggaacattcc tgagtgaatt cgcaagcgca
     1261 ctagcatgtg atattaggga gtttgcaata aattattgag gctga
//
