LOCUS       NM_032357               1769 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens coiled-coil domain containing 115 (CCDC115),
            transcript variant 1, mRNA.
ACCESSION   NM_032357
VERSION     NM_032357.4
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 1769)
  AUTHORS   Larsen,L.E., van den Boogert,M.A.W., Rios-Ocampo,W.A., Jansen,J.C.,
            Conlon,D., Chong,P.L.E., Levels,J.H.M., Eilers,R.E., Sachdev,V.V.,
            Zelcer,N., Raabe,T., He,M., Hand,N.J., Drenth,J.P.H., Rader,D.J.,
            Stroes,E.S.G., Lefeber,D.J., Jonker,J.W. and Holleboom,A.G.
  TITLE     Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver
            Disease as Evidenced by Human Mutations in TMEM199 and CCDC115
  JOURNAL   Cell Mol Gastroenterol Hepatol 13 (2), 583-597 (2022)
   PUBMED   34626841
  REMARK    GeneRIF: Defective Lipid Droplet-Lysosome Interaction Causes Fatty
            Liver Disease as Evidenced by Human Mutations in TMEM199 and
            CCDC115.
REFERENCE   2  (bases 1 to 1769)
  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   3  (bases 1 to 1769)
  AUTHORS   Sobh,A., Loguinov,A., Zhou,J., Jenkitkasemwong,S., Zeidan,R., El
            Ahmadie,N., Tagmount,A., Knutson,M., Fraenkel,P.G. and Vulpe,C.D.
  TITLE     Genetic screens reveal CCDC115 as a modulator of erythroid iron and
            heme trafficking
  JOURNAL   Am J Hematol 95 (9), 1085-1098 (2020)
   PUBMED   32510613
  REMARK    GeneRIF: Genetic screens reveal CCDC115 as a modulator of erythroid
            iron and heme trafficking.
REFERENCE   4  (bases 1 to 1769)
  AUTHORS   Sanchez-Monteagudo,A., Alvarez-Sauco,M., Sastre,I.,
            Martinez-Torres,I., Lupo,V., Berenguer,M. and Espinos,C.
  TITLE     Genetics of Wilson disease and Wilson-like phenotype in a clinical
            series from eastern Spain
  JOURNAL   Clin Genet 97 (5), 758-763 (2020)
   PUBMED   32043565
  REMARK    GeneRIF: Genetics of Wilson disease and Wilson-like phenotype in a
            clinical series from eastern Spain.
REFERENCE   5  (bases 1 to 1769)
  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 1769)
  AUTHORS   Girard,M., Poujois,A., Fabre,M., Lacaille,F., Debray,D., Rio,M.,
            Fenaille,F., Cholet,S., Ruel,C., Causse,E., Selves,J.,
            Bridoux-Henno,L., Woimant,F., Dupre,T., Vuillaumier-Barrot,S.,
            Seta,N., Alric,L., de Lonlay,P. and Bruneel,A.
  TITLE     CCDC115-CDG: A new rare and misleading inherited cause of liver
            disease
  JOURNAL   Mol Genet Metab 124 (3), 228-235 (2018)
   PUBMED   29759592
  REMARK    GeneRIF: CCDC115 mutation is associated with Congenital disorders
            of glycosylation causing liver disease.
REFERENCE   7  (bases 1 to 1769)
  AUTHORS   Winter,J.M., Curry,N.L., Gildea,D.M., Williams,K.A., Lee,M., Hu,Y.
            and Crawford,N.P.S.
  TITLE     Modifier locus mapping of a transgenic F2 mouse population
            identifies CCDC115 as a novel aggressive prostate cancer modifier
            gene in humans
  JOURNAL   BMC Genomics 19 (1), 450 (2018)
   PUBMED   29890952
  REMARK    GeneRIF: CCDC115 is associated with less aggressive prostate cancer
            in humans.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1769)
  AUTHORS   Miles,A.L., Burr,S.P., Grice,G.L. and Nathan,J.A.
  TITLE     The vacuolar-ATPase complex and assembly factors, TMEM199 and
            CCDC115, control HIF1alpha prolyl hydroxylation by regulating
            cellular iron levels
  JOURNAL   Elife 6, e22693 (2017)
   PUBMED   28296633
  REMARK    GeneRIF: Vacuolar H+ ATPase (V-ATPase), the key proton pump for
            endo-lysosomal acidification, and two previously uncharacterised
            V-ATPase assembly factors, TMEM199 and CCDC115, stabilise HIF1alpha
            in aerobic conditions.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1769)
  AUTHORS   Jansen,J.C., Cirak,S., van Scherpenzeel,M., Timal,S., Reunert,J.,
            Rust,S., Perez,B., Vicogne,D., Krawitz,P., Wada,Y., Ashikov,A.,
            Perez-Cerda,C., Medrano,C., Arnoldy,A., Hoischen,A., Huijben,K.,
            Steenbergen,G., Quelhas,D., Diogo,L., Rymen,D., Jaeken,J.,
            Guffon,N., Cheillan,D., van den Heuvel,L.P., Maeda,Y., Kaiser,O.,
            Schara,U., Gerner,P., van den Boogert,M.A., Holleboom,A.G.,
            Nassogne,M.C., Sokal,E., Salomon,J., van den Bogaart,G.,
            Drenth,J.P., Huynen,M.A., Veltman,J.A., Wevers,R.A., Morava,E.,
            Matthijs,G., Foulquier,F., Marquardt,T. and Lefeber,D.J.
  TITLE     CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with
            Abnormal Protein Glycosylation
  JOURNAL   Am J Hum Genet 98 (2), 310-321 (2016)
   PUBMED   26833332
  REMARK    GeneRIF: Our study reveals CCDC115 deficiency as a disorder of
            Golgi homeostasis that can be readily identified via screening for
            abnormal glycosylation in plasma.
REFERENCE   10 (bases 1 to 1769)
  AUTHORS   Pellicano,F., Thomson,R.E., Inman,G.J. and Iwata,T.
  TITLE     Regulation of cell proliferation and apoptosis in neuroblastoma
            cells by ccp1, a FGF2 downstream gene
  JOURNAL   BMC Cancer 10, 657 (2010)
   PUBMED   21118521
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB025106.1, BC006429.1 and
            AA831631.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_032357.3.
            
            Summary: The protein encoded by this gene has been observed to
            localize to the endoplasmic reticulum (ER)-Golgi intermediate
            compartment (ERGIC) and coat protein complex I (COPI) vesicles in
            some human cells. The encoded protein shares some homology with the
            yeast V-ATPase assembly factor Vma22p, and the orthologous protein
            in mouse promotes cell proliferation and suppresses cell death.
            Defects in this gene are a cause of congenital disorder of
            glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.992963.1,
                                           SRR3476690.685372.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259229.7/ ENSP00000259229.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                DB025106.1         221-239
            20-1461             BC006429.1         1-1442
            1462-1769           AA831631.1         13-320              c
FEATURES             Location/Qualifiers
     source          1..1769
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.1"
     gene            1..1769
                     /gene="CCDC115"
                     /gene_synonym="ccp1; CDG2O"
                     /note="coiled-coil domain containing 115"
                     /db_xref="GeneID:84317"
                     /db_xref="HGNC:HGNC:28178"
                     /db_xref="MIM:613734"
     exon            1..150
                     /gene="CCDC115"
                     /gene_synonym="ccp1; CDG2O"
                     /inference="alignment:Splign:2.1.0"
     exon            151..254
                     /gene="CCDC115"
                     /gene_synonym="ccp1; CDG2O"
                     /inference="alignment:Splign:2.1.0"
     exon            255..337
                     /gene="CCDC115"
                     /gene_synonym="ccp1; CDG2O"
                     /inference="alignment:Splign:2.1.0"
     exon            338..469
                     /gene="CCDC115"
                     /gene_synonym="ccp1; CDG2O"
                     /inference="alignment:Splign:2.1.0"
     exon            470..1769
                     /gene="CCDC115"
                     /gene_synonym="ccp1; CDG2O"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1434..1439
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC115"
                     /gene_synonym="ccp1; CDG2O"
                     /note="hexamer: AGTAAA"
     polyA_site      1461
                     /gene="CCDC115"
                     /gene_synonym="ccp1; CDG2O"
                     /note="major polyA site"
     regulatory      1745..1750
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC115"
                     /gene_synonym="ccp1; CDG2O"
                     /note="hexamer: AATACA"
     polyA_site      1769
                     /gene="CCDC115"
                     /gene_synonym="ccp1; CDG2O"
ORIGIN      
        1 gacaaggaag aaggtggctc cagatctgga ggtgtgtcca tggcggcgct tgacctgcga
       61 gcggagctgg attcgctggt cctgcagctg cttggggacc tggaggagct ggaggggaaa
      121 cgaacggtgt tgaacgcccg ggtggaggag ggctggctct cgctcgccaa ggctcgctac
      181 gcgatgggcg ccaagtcggt agggcccctg cagtatgctt cccacatgga gccccaggtc
      241 tgcctccacg ccagcgaggc ccaggaggga ctccagaagt tcaaggtggt gagagctggt
      301 gtccacgccc cagaggaggt ggggcctcgc gaagcaggtc tgcggaggcg caagggcccc
      361 actaagaccc cagaaccgga gtcctctgag gcccctcagg accccctgaa ctggtttgga
      421 atcctagttc ctcacagtct acgtcaggct caagcaagct tccgggatgg cctgcagctg
      481 gccgcagaca tagccagcct ccagaaccgc attgactggg gtcgaagcca gctccgggga
      541 ctccaagaga aactcaagca gctggagcct ggggctgcct gacatgcgcg caaagaggca
      601 gggcagcgag cacagctgtt ctccgacatg gctacgtgat ctcaggcctt cttccttcac
      661 aattagctct tgcccctacc ccacgccagc taatgcccct tctgtgtccc tgctctgcat
      721 gtttccattt tccttaggtg tgaagtttga agaggcaaac agtaattttg aaagccacta
      781 ctttgaaacc attctaaggc ctgagttccc ataggacaca ctcacatagg caggtacacg
      841 ttagtcaaca attggaactg cctcttggat cactcagctg tgctttcatg gctggatgat
      901 ggaacactgt gcgaagagag atgggggcca ggaagtagcg cttcatgctt agtacatcct
      961 ccaaattgtc tttgctggag gagaaaaccg tactcagcca aaagatcagg acaatatgac
     1021 ttgagtccac aaggacacaa acacctgagt agctgggcag cccttggcag ggtctaagcc
     1081 aggaagtaaa aatgatctgg cctagatatt taagggaact ctaggaagag gcctaggttt
     1141 ttaaaatcct gtctctttgt cttaccataa gaggctgagc ctctcttcat ttttttgaag
     1201 ggccacttgt gttttctgtt ctgggaactt cattcatttt tctactgggt tgttgatctt
     1261 tgcagtaatt tctaggagct gtttatgttt ggaggtaatt ggtcctttgt ccatatatat
     1321 gagatgtaag tcttattttc cagtttatct ttttgcttat tttttttgac tttttattgt
     1381 aaaataaaac atcaaactgc acagaacagt tgaatagctt aatgaataac tacagtaaaa
     1441 gctatggtaa ccactaccca acttttgtgt tttttgatca ttatttgtac gtacagttga
     1501 atgtatccag ctgtcacatg attctgaatt tgggtttgta actgataagg caatcaggga
     1561 attctccagc attttcaaga acctctgtgg tttcagttga aatgtccagt gagtcatgtc
     1621 cagcttttcc accatcctcc cacgtgctgt atgtcggtta atgctgccct tttgttttgc
     1681 taactcccag tgtaaaccta atgtaatttg ggggttttca ttctgtttcg tggacattac
     1741 tgtcaataca ccagtaccac attgtttta
//
