LOCUS       NM_002437               1002 bp    mRNA    linear   PRI 08-DEC-2024
DEFINITION  Homo sapiens mitochondrial inner membrane protein MPV17 (MPV17),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_002437
VERSION     NM_002437.5
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 1002)
  AUTHORS   Samanta,A., Srivastava,A., Mandal,K., Sarma,M.S. and Poddar,U.
  TITLE     MPV17 mutation-related mitochondrial DNA depletion syndrome: A case
            series in infants
  JOURNAL   Indian J Gastroenterol 42 (4), 569-574 (2023)
   PUBMED   36753038
  REMARK    GeneRIF: MPV17 mutation-related mitochondrial DNA depletion
            syndrome: A case series in infants.
REFERENCE   2  (bases 1 to 1002)
  AUTHORS   Zhao,G., Zhao,X., Zhao,X., Liu,L., Wang,C. and Kong,X.
  TITLE     [Genetic testing and prenatal diagnosis for a Chinese pedigree
            affected with mitochondrial DNA depletion syndrome due to variant
            of MPV17 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 39 (10), 1085-1088 (2022)
   PUBMED   36184088
  REMARK    GeneRIF: [Genetic testing and prenatal diagnosis for a Chinese
            pedigree affected with mitochondrial DNA depletion syndrome due to
            variant of MPV17 gene].
REFERENCE   3  (bases 1 to 1002)
  AUTHORS   Tao,H., Wang,C., Lu,C., Ma,N., Zhu,Y., Xuan,S. and Zhou,X.
  TITLE     Comprehensive Analysis on the Specific Role and Function of
            Mitochondrial Inner Membrane Protein MPV17 in Liver Hepatocellular
            Carcinoma
  JOURNAL   Genet Res (Camb) 2022, 7236823 (2022)
   PUBMED   35919033
  REMARK    GeneRIF: Comprehensive Analysis on the Specific Role and Function
            of Mitochondrial Inner Membrane Protein MPV17 in Liver
            Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1002)
  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   5  (bases 1 to 1002)
  AUTHORS   Sperl,L.E. and Hagn,F.
  TITLE     NMR Structural and Biophysical Analysis of the Disease-Linked Inner
            Mitochondrial Membrane Protein MPV17
  JOURNAL   J Mol Biol 433 (15), 167098 (2021)
   PUBMED   34116124
  REMARK    GeneRIF: NMR Structural and Biophysical Analysis of the
            Disease-Linked Inner Mitochondrial Membrane Protein MPV17.
REFERENCE   6  (bases 1 to 1002)
  AUTHORS   Schenkel,J., Zwacka,R.M., Rutenberg,C., Reuter,A., Waldherr,R. and
            Weiher,H.
  TITLE     Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice
            by transgenesis with the human Mpv17 homologue
  JOURNAL   Kidney Int 48 (1), 80-84 (1995)
   PUBMED   7564095
REFERENCE   7  (bases 1 to 1002)
  AUTHORS   Zwacka,R.M., Reuter,A., Pfaff,E., Moll,J., Gorgas,K., Karasawa,M.
            and Weiher,H.
  TITLE     The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein
            producing reactive oxygen species
  JOURNAL   EMBO J 13 (21), 5129-5134 (1994)
   PUBMED   7957077
REFERENCE   8  (bases 1 to 1002)
  AUTHORS   Karasawa,M., Zwacka,R.M., Reuter,A., Fink,T., Hsieh,C.L.,
            Lichter,P., Francke,U. and Weiher,H.
  TITLE     The human homolog of the glomerulosclerosis gene Mpv17: structure
            and genomic organization
  JOURNAL   Hum Mol Genet 2 (11), 1829-1834 (1993)
   PUBMED   8281143
REFERENCE   9  (bases 1 to 1002)
  AUTHORS   El-Hattab,A.W., Wang,J., Dai,H., Almannai,M., Scaglia,F.,
            Craigen,W.J. and Wong,L.J.C.
  TITLE     MPV17-Related Mitochondrial DNA Maintenance Defect
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22593919
REFERENCE   10 (bases 1 to 1002)
  AUTHORS   Weiher,H.
  TITLE     Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its
            human homologue
  JOURNAL   Adv Nephrol Necker Hosp 22, 37-42 (1993)
   PUBMED   8427063
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI602840.1, X76538.1 and
            BC001115.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002437.4.
            
            Summary: This gene encodes a mitochondrial inner membrane protein
            that is implicated in the metabolism of reactive oxygen species.
            Mutations in this gene have been associated with the hepatocerebral
            form of mitochondrial DNA depletion syndrome (MDDS). [provided by
            RefSeq, Jul 2008].
            
            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 :: SRR5189655.162924.1,
                                           SRR5189661.158876.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2146411
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000380044.6/
                                                  ENSP00000369383.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                BI602840.1         7-28
            23-716              X76538.1           1-694
            717-1002            BC001115.2         713-998
FEATURES             Location/Qualifiers
     source          1..1002
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..1002
                     /gene="MPV17"
                     /gene_synonym="CMT2EE; MTDPS6; SYM1"
                     /note="mitochondrial inner membrane protein MPV17"
                     /db_xref="GeneID:4358"
                     /db_xref="HGNC:HGNC:7224"
                     /db_xref="MIM:137960"
     exon            1..46
                     /gene="MPV17"
                     /gene_synonym="CMT2EE; MTDPS6; SYM1"
                     /inference="alignment:Splign:2.1.0"
     exon            47..121
                     /gene="MPV17"
                     /gene_synonym="CMT2EE; MTDPS6; SYM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..582
                     /gene="MPV17"
                     /gene_synonym="CMT2EE; MTDPS6; SYM1"
                     /note="Mpv17, human homolog of glomerulosclerosis and
                     nephrotic syndrome; protein Mpv17; MpV17 mitochondrial
                     inner membrane protein; MPV17, mitochondrial inner
                     membrane protein"
                     /codon_start=1
                     /product="mitochondrial inner membrane protein Mpv17"
                     /protein_id="NP_002428.1"
                     /db_xref="CCDS:CCDS1748.1"
                     /db_xref="GeneID:4358"
                     /db_xref="HGNC:HGNC:7224"
                     /db_xref="MIM:137960"
                     /translation="MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQ
                     EHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCFLG
                     CFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQC
                     VAVIWNSYLSWKAHRL"
     exon            122..237
                     /gene="MPV17"
                     /gene_synonym="CMT2EE; MTDPS6; SYM1"
                     /inference="alignment:Splign:2.1.0"
     exon            238..330
                     /gene="MPV17"
                     /gene_synonym="CMT2EE; MTDPS6; SYM1"
                     /inference="alignment:Splign:2.1.0"
     exon            331..426
                     /gene="MPV17"
                     /gene_synonym="CMT2EE; MTDPS6; SYM1"
                     /inference="alignment:Splign:2.1.0"
     exon            427..459
                     /gene="MPV17"
                     /gene_synonym="CMT2EE; MTDPS6; SYM1"
                     /inference="alignment:Splign:2.1.0"
     exon            460..512
                     /gene="MPV17"
                     /gene_synonym="CMT2EE; MTDPS6; SYM1"
                     /inference="alignment:Splign:2.1.0"
     exon            513..1002
                     /gene="MPV17"
                     /gene_synonym="CMT2EE; MTDPS6; SYM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      983..988
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPV17"
                     /gene_synonym="CMT2EE; MTDPS6; SYM1"
                     /note="hexamer: ATTAAA"
     polyA_site      1002
                     /gene="MPV17"
                     /gene_synonym="CMT2EE; MTDPS6; SYM1"
                     /note="major polyA site"
ORIGIN      
        1 agttcctagg ccagcctgtc acgtgggagg gaggctcggc gctcaggaag catggcactc
       61 tggcgggcat accagcgggc cctggccgct cacccgtgga aagtacaggt cctgacagct
      121 gggtccctga tgggcctggg tgacattatc tcacagcagc tggtggagag gcggggtctg
      181 caggaacacc agagaggccg gactctgacc atggtgtccc tgggctgtgg ctttgtgggc
      241 cctgtggtag gaggctggta caaggttttg gatcggttca tccctggcac caccaaagtg
      301 gatgcactga agaagatgtt gttggatcag gggggctttg ccccgtgttt tctaggctgc
      361 tttctcccac tggtaggggc acttaatgga ctgtcagccc aggacaactg ggccaaacta
      421 cagcgggatt atcctgatgc ccttatcacc aactactatc tatggcctgc tgtgcagtta
      481 gccaacttct acctggtccc ccttcattac aggttggccg ttgtccaatg tgttgctgtt
      541 atctggaact cctacctgtc ctggaaggca catcggctct aagcctgcct cactccatcg
      601 tttccacctt gcagtgatgc agcttgaccc tggaacggtc agacaacctc ctcaaagtgg
      661 gcataccagt ttccacgggg ttgggttgcc ggtcagagct taagaggact agcaccctgc
      721 aatgcccctc ttcactctaa aatgtacact gactgcttta gagcccttga taatagtctt
      781 attcccacca catactaggc actccataaa tatctgttga accttcatga ccttatcaac
      841 tttacaccca tatcccagca aatgccactc atccccactc ttcatagaca catttgttac
      901 tctaaccctg cctaggcttc ttgtagctcc agctctttag agactcccgg aaccctttat
      961 atggtgcctc agtaaatatg ttattaaata tgtaatccgg aa
//
