LOCUS       NM_001098502            1433 bp    mRNA    linear   PRI 28-AUG-2024
DEFINITION  Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing
            4 (CHCHD4), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001098502
VERSION     NM_001098502.2
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 1433)
  AUTHORS   Thomas,L.W., Stephen,J.M. and Ashcroft,M.
  TITLE     CHCHD4 regulates the expression of mitochondrial genes that are
            essential for tumour cell growth
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (7), 167282 (2024)
   PUBMED   38909850
  REMARK    GeneRIF: CHCHD4 regulates the expression of mitochondrial genes
            that are essential for tumour cell growth.
            Review article
REFERENCE   2  (bases 1 to 1433)
  AUTHORS   Arab,R., Sitolle,J., Ziga,J. and Golinelli-Cohen,M.P.
  TITLE     [The glutathionylation of the human mitochondrial protein MIA40
            regulates ROS homeostasis]
  JOURNAL   Med Sci (Paris) 40 (2), 203-205 (2024)
   PUBMED   38411431
  REMARK    GeneRIF: [The glutathionylation of the human mitochondrial protein
            MIA40 regulates ROS homeostasis].
REFERENCE   3  (bases 1 to 1433)
  AUTHORS   Qiu,Y., Wang,H., Fan,M., Pan,H., Guan,J., Jiang,Y., Jia,Z., Wu,K.,
            Zhou,H., Zhuang,Q., Lei,Z., Ding,X., Cai,H., Dong,Y., Yan,L.,
            Lin,A., Fu,Y., Zhang,D., Yan,Q. and Wang,Q.
  TITLE     Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload
            contribute to auditory neuropathy spectrum disorder in
            patient-iPSC-derived neurons with AIFM1 variant
  JOURNAL   Cell Death Dis 14 (6), 375 (2023)
   PUBMED   37365177
  REMARK    GeneRIF: Impaired AIF-CHCHD4 interaction and mitochondrial calcium
            overload contribute to auditory neuropathy spectrum disorder in
            patient-iPSC-derived neurons with AIFM1 variant.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1433)
  AUTHORS   Murari,A., Thiriveedi,V.R., Mohammad,F., Vengaldas,V., Gorla,M.,
            Tammineni,P., Krishnamoorthy,T. and Sepuri,N.B.
  TITLE     Human mitochondrial MIA40 (CHCHD4) is a component of the Fe-S
            cluster export machinery
  JOURNAL   Biochem J 471 (2), 231-241 (2015)
   PUBMED   26275620
  REMARK    GeneRIF: results demonstrate an indispensable role for hMIA40 for
            the export of Fe-S clusters from mitochondria.
REFERENCE   5  (bases 1 to 1433)
  AUTHORS   Petrungaro,C., Zimmermann,K.M., Kuttner,V., Fischer,M., Dengjel,J.,
            Bogeski,I. and Riemer,J.
  TITLE     The Ca(2+)-Dependent Release of the Mia40-Induced MICU1-MICU2 Dimer
            from MCU Regulates Mitochondrial Ca(2+) Uptake
  JOURNAL   Cell Metab 22 (4), 721-733 (2015)
   PUBMED   26387864
REFERENCE   6  (bases 1 to 1433)
  AUTHORS   Yang,J., Staples,O., Thomas,L.W., Briston,T., Robson,M., Poon,E.,
            Simoes,M.L., El-Emir,E., Buffa,F.M., Ahmed,A., Annear,N.P.,
            Shukla,D., Pedley,B.R., Maxwell,P.H., Harris,A.L. and Ashcroft,M.
  TITLE     Human CHCHD4 mitochondrial proteins regulate cellular oxygen
            consumption rate and metabolism and provide a critical role in
            hypoxia signaling and tumor progression
  JOURNAL   J Clin Invest 122 (2), 600-611 (2012)
   PUBMED   22214851
  REMARK    GeneRIF: First group to discover the expression of the human CHCHD4
            isoforms and first to call the human gene CHCHD4, and to clone and
            show the expression of its alternatively expressed CHCHD4 isoforms
            (CHCHD4.1 and CHCHD4.2).
REFERENCE   7  (bases 1 to 1433)
  AUTHORS   Banci,L., Bertini,I., Cefaro,C., Cenacchi,L., Ciofi-Baffoni,S.,
            Felli,I.C., Gallo,A., Gonnelli,L., Luchinat,E., Sideris,D. and
            Tokatlidis,K.
  TITLE     Molecular chaperone function of Mia40 triggers consecutive induced
            folding steps of the substrate in mitochondrial protein import
  JOURNAL   Proc Natl Acad Sci U S A 107 (47), 20190-20195 (2010)
   PUBMED   21059946
REFERENCE   8  (bases 1 to 1433)
  AUTHORS   Banci,L., Bertini,I., Cefaro,C., Ciofi-Baffoni,S., Gallo,A.,
            Martinelli,M., Sideris,D.P., Katrakili,N. and Tokatlidis,K.
  TITLE     MIA40 is an oxidoreductase that catalyzes oxidative protein folding
            in mitochondria
  JOURNAL   Nat Struct Mol Biol 16 (2), 198-206 (2009)
   PUBMED   19182799
REFERENCE   9  (bases 1 to 1433)
  AUTHORS   Chacinska,A., Guiard,B., Muller,J.M., Schulze-Specking,A.,
            Gabriel,K., Kutik,S. and Pfanner,N.
  TITLE     Mitochondrial biogenesis, switching the sorting pathway of the
            intermembrane space receptor Mia40
  JOURNAL   J Biol Chem 283 (44), 29723-29729 (2008)
   PUBMED   18779329
  REMARK    GeneRIF: analysis of how mitochondrial biogenesis switches the
            sorting pathway of the intermembrane space receptor Mia40
REFERENCE   10 (bases 1 to 1433)
  AUTHORS   Terziyska,N., Grumbt,B., Bien,M., Neupert,W., Herrmann,J.M. and
            Hell,K.
  TITLE     The sulfhydryl oxidase Erv1 is a substrate of the Mia40-dependent
            protein translocation pathway
  JOURNAL   FEBS Lett 581 (6), 1098-1102 (2007)
   PUBMED   17336303
  REMARK    GeneRIF: After passage across the translocase of the mitochondrial
            outer membrane Erv1 interacts via disulfide bonds with Mia40.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB452249.1, DB501565.1, BC033775.1 and BC017082.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001098502.1.
            
            Summary: CHCHD4, a component of human mitochondria, belongs to a
            protein family whose members share 6 highly conserved cysteine
            residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus
            (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar
            2008].
            
            Transcript Variant: This variant (1) is the predominant transcript.
            It does not contain an N-terminal, cleavable mitochondrial target
            sequence, yet experimental studies have determined that the encoded
            protein (isoform 1) is found within the intermembrane space of the
            mitochondrion.
            
            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 :: SRR3476690.184713.1,
                                           SRR3476690.125539.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000396914.4/
                                                  ENSP00000380122.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                DB452249.1         457-480             c
            25-121              DB501565.1         25-121
            122-778             BC033775.1         19-675
            779-1433            BC017082.1         648-1302
FEATURES             Location/Qualifiers
     source          1..1433
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     gene            1..1433
                     /gene="CHCHD4"
                     /gene_synonym="MIA40; TIMM40"
                     /note="coiled-coil-helix-coiled-coil-helix domain
                     containing 4"
                     /db_xref="GeneID:131474"
                     /db_xref="HGNC:HGNC:26467"
                     /db_xref="MIM:611077"
     exon            1..216
                     /gene="CHCHD4"
                     /gene_synonym="MIA40; TIMM40"
                     /inference="alignment:Splign:2.1.0"
     CDS             195..623
                     /gene="CHCHD4"
                     /gene_synonym="MIA40; TIMM40"
                     /note="isoform 1 is encoded by transcript variant 1;
                     translocase of inner mitochondrial membrane 40 homolog;
                     mitochondrial intermembrane space import and assembly
                     protein 40; coiled-coil-helix-coiled-coil-helix
                     domain-containing protein 4"
                     /codon_start=1
                     /product="mitochondrial intermembrane space import and
                     assembly protein 40 isoform 1"
                     /protein_id="NP_001091972.1"
                     /db_xref="CCDS:CCDS43054.1"
                     /db_xref="GeneID:131474"
                     /db_xref="HGNC:HGNC:26467"
                     /db_xref="MIM:611077"
                     /translation="MSYCRQEGKDRIIFVTKEDHETPSSAELVADDPNDPYEEHGLIL
                     PNGNINWNCPCLGGMASGPCGEQFKSAFSCFHYSTEEIKGSDCVDQFRAMQECMQKYP
                     DLYPQEDEDEEEEREKKPAEQAEETAPIEATATKEEEGSS"
     exon            217..315
                     /gene="CHCHD4"
                     /gene_synonym="MIA40; TIMM40"
                     /inference="alignment:Splign:2.1.0"
     exon            316..1433
                     /gene="CHCHD4"
                     /gene_synonym="MIA40; TIMM40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      914..919
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHCHD4"
                     /gene_synonym="MIA40; TIMM40"
                     /note="hexamer: ACTAAA"
     polyA_site      935
                     /gene="CHCHD4"
                     /gene_synonym="MIA40; TIMM40"
     regulatory      1406..1411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHCHD4"
                     /gene_synonym="MIA40; TIMM40"
                     /note="hexamer: ATTAAA"
     polyA_site      1433
                     /gene="CHCHD4"
                     /gene_synonym="MIA40; TIMM40"
                     /note="major polyA site"
ORIGIN      
        1 agtttccggc tgaggttggc ctggccgcgg ttgcgagggc gccgaggcag gcgcgcggcg
       61 ggcaggcctg ggagggggcg ggtccgcgcg ggcttcggag gagcccgccc tgccagagga
      121 gagggaggtc acggcgtaaa ggtgcagctg ccgccaccgc cgcttctgca aggtctcagg
      181 gacgggctgc agccatgtcc tattgccggc aggaagggaa ggatcgaatc atatttgtaa
      241 ccaaagaaga tcatgaaact ccaagcagtg cagaattggt ggctgatgac cccaacgatc
      301 catacgagga gcatggattg atactgccaa atggaaacat taactggaac tgcccatgcc
      361 ttgggggaat ggccagcggt ccctgtggag aacagtttaa gtcagccttt tcctgcttcc
      421 actatagcac ggaggagatc aaggggtcag actgtgtaga ccagttccgg gccatgcagg
      481 aatgcatgca gaaataccca gacctctatc cccaagagga tgaggatgag gaagaggaaa
      541 gagagaagaa gccagcagaa caagcagaag aaacagctcc cattgaggcc actgcaacca
      601 aagaagagga gggatcaagt taatgaaggc cacaaggcac tgggcaccag tccttttgga
      661 gtggaccttt tgcaaaaggc cttgtcatca ccttccaaga aagtttcctt ctgttgtcct
      721 gtgcattata atatacaaaa taacttattt tgatgatcag aggtcttgag gtcttgacat
      781 cttgacatat acactgaaaa aaatgggggt tgtatgtatg tgtgtcctac ccaaacctgt
      841 ggccgccact tttgaattct cagattgccc tgaattttgc cacttttaaa taatgtgctg
      901 aataagctca gcaactaaaa accattaccc aagaacgttt cttgtgagtg agctgattta
      961 ttctgattca ttatattcct tttggtagat tttatacccc ttggggaaat aatacaacaa
     1021 aaacatctct taaaaatgct gggatggggc catatctact agcagaggcc agatggtcag
     1081 atatgatttc tgcaaaccca tcttgacctt gagtatgtga aggggtactg tactttattc
     1141 ctgatacatt ttggtttcca tgtaggtgtt gagctcctgg ttttctgtgt ttggatgatg
     1201 aagatttgga cccttccatt cataatccct ttctaagtga agggagaggc tggcttggct
     1261 gttccttgtt attccgaaag ccctggtttg gggcccatgt tcacactggc tctcagtcta
     1321 gtcaggtgca atgttcttga gaggtgggga cctaattatt accagagtag cagcaagaga
     1381 ggaaacgttg tgaattaagt attcaattaa aaggaaacat gatttctacc tga
//
