LOCUS       NM_197955                649 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens chromosome 15 open reading frame 48 (C15orf48),
            transcript variant 1, mRNA.
ACCESSION   NM_197955
VERSION     NM_197955.3
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 649)
  AUTHORS   Clayton,S.A., Daley,K.K., MacDonald,L., Fernandez-Vizarra,E.,
            Bottegoni,G., O'Neil,J.D., Major,T., Griffin,D., Zhuang,Q.,
            Adewoye,A.B., Woolcock,K., Jones,S.W., Goodyear,C., Elmesmari,A.,
            Filer,A., Tennant,D.A., Alivernini,S., Buckley,C.D.,
            Pitceathly,R.D.S., Kurowska-Stolarska,M. and Clark,A.R.
  TITLE     Inflammation causes remodeling of mitochondrial cytochrome c
            oxidase mediated by the bifunctional gene C15orf48
  JOURNAL   Sci Adv 7 (50), eabl5182 (2021)
   PUBMED   34878835
REFERENCE   2  (bases 1 to 649)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 649)
  AUTHORS   Lee,C.Q.E., Kerouanton,B., Chothani,S., Zhang,S., Chen,Y.,
            Mantri,C.K., Hock,D.H., Lim,R., Nadkarni,R., Huynh,V.T., Lim,D.,
            Chew,W.L., Zhong,F.L., Stroud,D.A., Schafer,S., Tergaonkar,V., St
            John,A.L., Rackham,O.J.L. and Ho,L.
  TITLE     Coding and non-coding roles of MOCCI (C15ORF48) coordinate to
            regulate host inflammation and immunity
  JOURNAL   Nat Commun 12 (1), 2130 (2021)
   PUBMED   33837217
  REMARK    GeneRIF: Coding and non-coding roles of MOCCI (C15ORF48) coordinate
            to regulate host inflammation and immunity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 649)
  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 649)
  AUTHORS   Floyd,B.J., Wilkerson,E.M., Veling,M.T., Minogue,C.E., Xia,C.,
            Beebe,E.T., Wrobel,R.L., Cho,H., Kremer,L.S., Alston,C.L.,
            Gromek,K.A., Dolan,B.K., Ulbrich,A., Stefely,J.A., Bohl,S.L.,
            Werner,K.M., Jochem,A., Westphall,M.S., Rensvold,J.W., Taylor,R.W.,
            Prokisch,H., Kim,J.P., Coon,J.J. and Pagliarini,D.J.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   6  (bases 1 to 649)
  AUTHORS   Zimmer,A., Bouley,J., Le Mignon,M., Pliquet,E., Horiot,S.,
            Turfkruyer,M., Baron-Bodo,V., Horak,F., Nony,E., Louise,A.,
            Moussu,H., Mascarell,L. and Moingeon,P.
  TITLE     A regulatory dendritic cell signature correlates with the clinical
            efficacy of allergen-specific sublingual immunotherapy
  JOURNAL   J Allergy Clin Immunol 129 (4), 1020-1030 (2012)
   PUBMED   22464673
REFERENCE   7  (bases 1 to 649)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 649)
  AUTHORS   Arai,M., Imazeki,F., Sakai,Y., Mikata,R., Tada,M., Seki,N.,
            Shimada,H., Ochiai,T. and Yokosuka,O.
  TITLE     Analysis of the methylation status of genes up-regulated by the
            demethylating agent, 5-aza-2'-deoxycytidine, in esophageal squamous
            cell carcinoma
  JOURNAL   Oncol Rep 20 (2), 405-412 (2008)
   PUBMED   18636205
REFERENCE   9  (bases 1 to 649)
  AUTHORS   Sova,P., Feng,Q., Geiss,G., Wood,T., Strauss,R., Rudolf,V.,
            Lieber,A. and Kiviat,N.
  TITLE     Discovery of novel methylation biomarkers in cervical carcinoma by
            global demethylation and microarray analysis
  JOURNAL   Cancer Epidemiol Biomarkers Prev 15 (1), 114-123 (2006)
   PUBMED   16434596
REFERENCE   10 (bases 1 to 649)
  AUTHORS   Zhou,J., Wang,H., Lu,A., Hu,G., Luo,A., Ding,F., Zhang,J., Wang,X.,
            Wu,M. and Liu,Z.
  TITLE     A novel gene, NMES1, downregulated in human esophageal squamous
            cell carcinoma
  JOURNAL   Int J Cancer 101 (4), 311-316 (2002)
   PUBMED   12209954
  REMARK    GeneRIF: The negative correlation of NMES1 expression with
            esophageal oncogenesis suggests its suppressive role in
            tumorigenesis of the esophagus, while the precise function of NMES1
            still needs further investigation.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM312626.1, BC021173.2 and
            AF228422.1.
            
            On May 20, 2020 this sequence version replaced NM_197955.2.
            
            Summary: This gene was first identified in a study of human
            esophageal squamous cell carcinoma tissues. Levels of both the
            message and protein are reduced in carcinoma samples. In adult
            human tissues, this gene is expressed in the the esophagus,
            stomach, small intestine, colon and placenta. Alternatively spliced
            transcript variants that encode the same protein have been
            identified. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (1) encodes the functional
            protein. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BF681514.1, HY043948.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396650.7/ ENSP00000379887.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-451               BM312626.1         46-496
            452-640             BC021173.2         453-641
            641-649             AF228422.1         757-765
FEATURES             Location/Qualifiers
     source          1..649
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..649
                     /gene="C15orf48"
                     /gene_synonym="COXFA4L3; FOAP-11; MIR147BHG; MISTRAV;
                     MOCCI; NMES1"
                     /note="chromosome 15 open reading frame 48"
                     /db_xref="GeneID:84419"
                     /db_xref="HGNC:HGNC:29898"
                     /db_xref="MIM:608409"
     exon            1..46
                     /gene="C15orf48"
                     /gene_synonym="COXFA4L3; FOAP-11; MIR147BHG; MISTRAV;
                     MOCCI; NMES1"
                     /inference="alignment:Splign:2.1.0"
     exon            47..109
                     /gene="C15orf48"
                     /gene_synonym="COXFA4L3; FOAP-11; MIR147BHG; MISTRAV;
                     MOCCI; NMES1"
                     /inference="alignment:Splign:2.1.0"
     CDS             74..325
                     /gene="C15orf48"
                     /gene_synonym="COXFA4L3; FOAP-11; MIR147BHG; MISTRAV;
                     MOCCI; NMES1"
                     /note="normal mucosa of esophagus specific 1; MIR147B
                     host; cytochrome c oxidase subunit FA4 like 3; modulator
                     of cytochrome C oxidase during inflammation; mitochondrial
                     stress response antiviral"
                     /codon_start=1
                     /product="normal mucosa of esophagus-specific gene 1
                     protein"
                     /protein_id="NP_922946.1"
                     /db_xref="CCDS:CCDS10124.1"
                     /db_xref="GeneID:84419"
                     /db_xref="HGNC:HGNC:29898"
                     /db_xref="MIM:608409"
                     /translation="MSFFQLLMKRKELIPLVVFMTVAAGGASSFAVYSLWKTDVILDR
                     KKNPEPWETVDPTVPQKLITINQQWKPIEELQNVQRVTK"
     exon            110..195
                     /gene="C15orf48"
                     /gene_synonym="COXFA4L3; FOAP-11; MIR147BHG; MISTRAV;
                     MOCCI; NMES1"
                     /inference="alignment:Splign:2.1.0"
     exon            196..256
                     /gene="C15orf48"
                     /gene_synonym="COXFA4L3; FOAP-11; MIR147BHG; MISTRAV;
                     MOCCI; NMES1"
                     /inference="alignment:Splign:2.1.0"
     exon            257..649
                     /gene="C15orf48"
                     /gene_synonym="COXFA4L3; FOAP-11; MIR147BHG; MISTRAV;
                     MOCCI; NMES1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      472..477
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C15orf48"
                     /gene_synonym="COXFA4L3; FOAP-11; MIR147BHG; MISTRAV;
                     MOCCI; NMES1"
                     /note="hexamer: ATTAAA"
     polyA_site      507
                     /gene="C15orf48"
                     /gene_synonym="COXFA4L3; FOAP-11; MIR147BHG; MISTRAV;
                     MOCCI; NMES1"
                     /note="major polyA site"
     regulatory      618..623
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C15orf48"
                     /gene_synonym="COXFA4L3; FOAP-11; MIR147BHG; MISTRAV;
                     MOCCI; NMES1"
                     /note="hexamer: AATAAA"
     polyA_site      649
                     /gene="C15orf48"
                     /gene_synonym="COXFA4L3; FOAP-11; MIR147BHG; MISTRAV;
                     MOCCI; NMES1"
                     /note="major polyA site"
ORIGIN      
        1 cggttccggg cgttaccatc gtccgtgcgc accgcccggc gtccagattt ggcaattctt
       61 cgctgaagtc atcatgagct ttttccaact cctgatgaaa aggaaggaac tcattccctt
      121 ggtggtgttc atgactgtgg cggcgggtgg agcctcatct ttcgctgtgt attctctttg
      181 gaaaaccgat gtgatccttg atcgaaaaaa aaatccagaa ccttgggaaa ctgtggaccc
      241 tactgtacct caaaagctta taacaatcaa ccaacaatgg aaacccattg aagagttgca
      301 aaatgtccaa agggtgacca aatgacgagc cctcgcctct ttcttctgaa gagtactcta
      361 taaatctagt ggaaacattt ctgcacaaac tagattctgg acaccagtgt gcggaaatgc
      421 ttctgctaca tttttagggt ttgtctacat tttttgggct ctggataagg aattaaagga
      481 gtgcagcaat aactgcactg tctaaaagtt tgtgcttatt ttcttgtaaa tttgaatatt
      541 gcatattgaa atttttgttt atgatctatg aatgtttttc ttaaaattta caaagctttg
      601 taaattagat tttctttaat aaaatgccat ttgtgcaaga tttctcaaa
//
