LOCUS       NM_001017928             720 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial matrix import factor 23 (MIX23),
            transcript variant 1, mRNA.
ACCESSION   NM_001017928 XM_059492
VERSION     NM_001017928.4
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 720)
  AUTHORS   Yang,K., Ma,Y., Chen,W., Liu,L., Yang,Z., He,C., Zheng,N., Liu,X.,
            Cheng,X., Song,J., Chen,Y., Qiao,H. and Zhang,R.
  TITLE     CCDC58 is a potential biomarker for diagnosis, prognosis, immunity,
            and genomic heterogeneity in pan-cancer
  JOURNAL   Sci Rep 14 (1), 8575 (2024)
   PUBMED   38609450
  REMARK    GeneRIF: CCDC58 is a potential biomarker for diagnosis, prognosis,
            immunity, and genomic heterogeneity in pan-cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 720)
  AUTHORS   Wu,H., Geng,Q., Shi,W. and Qiu,C.
  TITLE     Comprehensive pan-cancer analysis reveals CCDC58 as a carcinogenic
            factor related to immune infiltration
  JOURNAL   Apoptosis 29 (3-4), 536-555 (2024)
   PUBMED   38066393
  REMARK    GeneRIF: Comprehensive pan-cancer analysis reveals CCDC58 as a
            carcinogenic factor related to immune infiltration.
REFERENCE   3  (bases 1 to 720)
  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   4  (bases 1 to 720)
  AUTHORS   Zoller,E., Laborenz,J., Kramer,L., Boos,F., Raschle,M.,
            Alexander,R.T. and Herrmann,J.M.
  TITLE     The intermembrane space protein Mix23 is a novel stress-induced
            mitochondrial import factor
  JOURNAL   J Biol Chem 295 (43), 14686-14697 (2020)
   PUBMED   32826315
REFERENCE   5  (bases 1 to 720)
  AUTHORS   O'Seaghdha,C.M., Yang,Q., Glazer,N.L., Leak,T.S., Dehghan,A.,
            Smith,A.V., Kao,W.H., Lohman,K., Hwang,S.J., Johnson,A.D.,
            Hofman,A., Uitterlinden,A.G., Chen,Y.D., Brown,E.M.,
            Siscovick,D.S., Harris,T.B., Psaty,B.M., Coresh,J., Gudnason,V.,
            Witteman,J.C., Liu,Y.M., Kestenbaum,B.R., Fox,C.S. and Kottgen,A.
  CONSRTM   GEFOS Consortium
  TITLE     Common variants in the calcium-sensing receptor gene are associated
            with total serum calcium levels
  JOURNAL   Hum Mol Genet 19 (21), 4296-4303 (2010)
   PUBMED   20705733
REFERENCE   6  (bases 1 to 720)
  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   7  (bases 1 to 720)
  AUTHORS   Kestenbaum,B., Glazer,N.L., Kottgen,A., Felix,J.F., Hwang,S.J.,
            Liu,Y., Lohman,K., Kritchevsky,S.B., Hausman,D.B., Petersen,A.K.,
            Gieger,C., Ried,J.S., Meitinger,T., Strom,T.M., Wichmann,H.E.,
            Campbell,H., Hayward,C., Rudan,I., de Boer,I.H., Psaty,B.M.,
            Rice,K.M., Chen,Y.D., Li,M., Arking,D.E., Boerwinkle,E., Coresh,J.,
            Yang,Q., Levy,D., van Rooij,F.J., Dehghan,A., Rivadeneira,F.,
            Uitterlinden,A.G., Hofman,A., van Duijn,C.M., Shlipak,M.G.,
            Kao,W.H., Witteman,J.C., Siscovick,D.S. and Fox,C.S.
  TITLE     Common genetic variants associate with serum phosphorus
            concentration
  JOURNAL   J Am Soc Nephrol 21 (7), 1223-1232 (2010)
   PUBMED   20558539
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CD683826.1, BC109378.1 and AC083798.14.
            
            On May 17, 2019 this sequence version replaced NM_001017928.3.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: BC109378.1, BU533446.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000291458.9/
                                                  ENSP00000291458.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                CD683826.1         23-42
            21-470              BC109378.1         5-454
            471-683             AC083798.14        74447-74659         c
            684-720             BC109378.1         662-698
FEATURES             Location/Qualifiers
     source          1..720
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.1"
     gene            1..720
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /note="mitochondrial matrix import factor 23"
                     /db_xref="GeneID:131076"
                     /db_xref="HGNC:HGNC:31136"
                     /db_xref="MIM:620713"
     exon            1..58
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /inference="alignment:Splign:2.1.0"
     CDS             8..442
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 58; coiled-coil
                     domain containing 58; protein MIX23"
                     /codon_start=1
                     /product="protein MIX23 isoform 1"
                     /protein_id="NP_001017928.1"
                     /db_xref="CCDS:CCDS33838.1"
                     /db_xref="GeneID:131076"
                     /db_xref="HGNC:HGNC:31136"
                     /db_xref="MIM:620713"
                     /translation="MAAPSGGVNCEEFAEFQELLKVMRTIDDRIVHELNTTVPTASFA
                     GKIDASQTCKQLYESLMAAHASRDRVIKNCIAQTSAVVKNLREEREKNLDDLTLLKQL
                     RKEQTKLKWMQSELNVEEVVNDRSWKVFNERCRIHFKPPKNE"
     exon            59..184
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /inference="alignment:Splign:2.1.0"
     exon            185..331
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /inference="alignment:Splign:2.1.0"
     exon            332..391
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /inference="alignment:Splign:2.1.0"
     exon            392..720
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /inference="alignment:Splign:2.1.0"
     regulatory      694..699
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /note="hexamer: ATTAAA"
     polyA_site      720
                     /gene="MIX23"
                     /gene_synonym="CCDC58"
                     /note="major polyA site"
ORIGIN      
        1 gtccaatatg gcggcgccca gtggcggtgt gaactgtgag gagttcgccg agttccagga
       61 attactcaag gtgatgagga caattgatga cagaatagta catgaattaa acactacggt
      121 tccaacagct tcctttgcag ggaaaattga tgccagccaa acctgtaaac aactttatga
      181 gtctttgatg gcagctcatg ccagtagaga cagagtcata aaaaactgta tagcccagac
      241 ttcagcagta gtaaaaaacc tccgagaaga gagagaaaag aatttggacg atttaacgtt
      301 attaaaacaa cttagaaaag agcagacaaa gttgaaatgg atgcagtcag aactgaatgt
      361 tgaagaagtg gtaaatgaca ggagctggaa ggtgtttaat gaacgctgcc gaattcactt
      421 caagcctcca aagaatgaat aaagagagat tctttttttt tttttttttt tttttttttt
      481 aaggactggg tcatctcata agagctaagc atgacagata tcaacagggc gggctttcta
      541 ggatgatttc tgagccaaca gtccaagacc ttttgttgat ttcagcccca cttagccaag
      601 acctcaagta taaataattc tgataattat ggagaaatca actgctattt tatactgatt
      661 ctgtaaaaaa aaaaaaaaaa aatttttgta actattaaaa taattttctg actcagtgta
//
