LOCUS       NM_005932               2381 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial intermediate peptidase (MIPEP), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_005932
VERSION     NM_005932.4
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 2381)
  AUTHORS   Allard,P., Alhaj,N., Lobitz,S., Cario,H., Jarisch,A., Grosse,R.,
            Oevermann,L., Hakimeh,D., Tagliaferri,L., Kohne,E.,
            Kopp-Schneider,A., Kulozik,A.E. and Kunz,J.B.
  TITLE     Genetic modifiers of fetal hemoglobin affect the course of sickle
            cell disease in patients treated with hydroxyurea
  JOURNAL   Haematologica 107 (7), 1577-1588 (2022)
   PUBMED   34706496
  REMARK    GeneRIF: Genetic modifiers of fetal hemoglobin affect the course of
            sickle cell disease in patients treated with hydroxyurea.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2381)
  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 2381)
  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   4  (bases 1 to 2381)
  AUTHORS   Sim,J., Park,J., Woo,H.A. and Rhee,S.G.
  TITLE     Maturation of Mitochondrially Targeted Prx V Involves a Second
            Cleavage by Mitochondrial Intermediate Peptidase That Is Sensitive
            to Inhibition by H2O2
  JOURNAL   Antioxidants (Basel) 10 (3), 346 (2021)
   PUBMED   33669127
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2381)
  AUTHORS   Kucukkose,C., Taskin,A.A., Marada,A., Brummer,T., Dennerlein,S. and
            Vogtle,F.N.
  TITLE     Functional coupling of presequence processing and degradation in
            human mitochondria
  JOURNAL   FEBS J 288 (2), 600-613 (2021)
   PUBMED   32491259
  REMARK    GeneRIF: Functional coupling of presequence processing and
            degradation in human mitochondria.
REFERENCE   6  (bases 1 to 2381)
  AUTHORS   Shi,Y., Qu,J., Zhang,D., Zhao,P., Zhang,Q., Tam,P.O.S., Sun,L.,
            Zuo,X., Zhou,X., Xiao,X., Hu,J., Li,Y., Cai,L., Liu,X., Lu,F.,
            Liao,S., Chen,B., He,F., Gong,B., Lin,H., Ma,S., Cheng,J.,
            Zhang,J., Chen,Y., Zhao,F., Yang,X., Chen,Y., Yang,C., Lam,D.S.C.,
            Li,X., Shi,F., Wu,Z., Lin,Y., Yang,J., Li,S., Ren,Y., Xue,A.,
            Fan,Y., Li,D., Pang,C.P., Zhang,X. and Yang,Z.
  TITLE     Genetic variants at 13q12.12 are associated with high myopia in the
            Han Chinese population
  JOURNAL   Am J Hum Genet 88 (6), 805-813 (2011)
   PUBMED   21640322
REFERENCE   7  (bases 1 to 2381)
  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 2381)
  AUTHORS   Chew,A., Sirugo,G., Alsobrook,J.P. 2nd and Isaya,G.
  TITLE     Functional and genomic analysis of the human mitochondrial
            intermediate peptidase, a putative protein partner of frataxin
  JOURNAL   Genomics 65 (2), 104-112 (2000)
   PUBMED   10783257
REFERENCE   9  (bases 1 to 2381)
  AUTHORS   Chew,A., Buck,E.A., Peretz,S., Sirugo,G., Rinaldo,P. and Isaya,G.
  TITLE     Cloning, expression, and chromosomal assignment of the human
            mitochondrial intermediate peptidase gene (MIPEP)
  JOURNAL   Genomics 40 (3), 493-496 (1997)
   PUBMED   9073519
REFERENCE   10 (bases 1 to 2381)
  AUTHORS   Kalousek,F., Isaya,G. and Rosenberg,L.E.
  TITLE     Rat liver mitochondrial intermediate peptidase (MIP): purification
            and initial characterization
  JOURNAL   EMBO J 11 (8), 2803-2809 (1992)
   PUBMED   1322290
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445985.10, AL157368.7 and
            AL139080.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005932.3.
            
            Summary: The product of this gene performs the final step in
            processing a specific class of nuclear-encoded proteins targeted to
            the mitochondrial matrix or inner membrane. This protein is
            primarily involved in the maturation of oxidative phosphorylation
            (OXPHOS)-related proteins. This gene may contribute to the
            functional effects of frataxin deficiency and the clinical
            manifestations of Friedreich ataxia. [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 :: BC009934.2, SRR1803616.149559.1
                                           [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                 :: ENST00000382172.4/
                                                  ENSP00000371607.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-269               AL445985.10        56163-56431         c
            270-443             AL445985.10        53364-53537         c
            444-532             AL445985.10        48730-48818         c
            533-619             AL445985.10        46299-46385         c
            620-683             AL445985.10        41877-41940         c
            684-866             AL445985.10        37044-37226         c
            867-1023            AL445985.10        36323-36479         c
            1024-1072           AL445985.10        31172-31220         c
            1073-1133           AL445985.10        29333-29393         c
            1134-1186           AL445985.10        25891-25943         c
            1187-1340           AL445985.10        8366-8519           c
            1341-1418           AL445985.10        6680-6757           c
            1419-1623           AL445985.10        4583-4787           c
            1624-1733           AL445985.10        3271-3380           c
            1734-1808           AL157368.7         918-992             c
            1809-1928           AL139080.11        78682-78801         c
            1929-2050           AL139080.11        32828-32949         c
            2051-2124           AL139080.11        29277-29350         c
            2125-2381           AL139080.11        2921-3177           c
FEATURES             Location/Qualifiers
     source          1..2381
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.12"
     gene            1..2381
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /note="mitochondrial intermediate peptidase"
                     /db_xref="GeneID:4285"
                     /db_xref="HGNC:HGNC:7104"
                     /db_xref="MIM:602241"
     exon            1..269
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..2222
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /EC_number="3.4.24.59"
                     /codon_start=1
                     /product="mitochondrial intermediate peptidase"
                     /protein_id="NP_005923.3"
                     /db_xref="CCDS:CCDS9303.1"
                     /db_xref="GeneID:4285"
                     /db_xref="HGNC:HGNC:7104"
                     /db_xref="MIM:602241"
                     /translation="MLCVGRLGGLGARAAALPPRRAGRGSLEAGIRARRVSTSWSPVG
                     AAFNVKPQGSRLDLFGERRGLFGVPELSAPEGFHIAQEKALRKTELLVDRACSTPPGP
                     QTVLIFDELSDSLCRVADLADFVKIAHPEPAFREAAEEACRSIGTMVEKLNTNVDLYQ
                     SLQKLLADKKLVDSLDPETRRVAELFMFDFEISGIHLDKEKRKRAVDLNVKILDLSST
                     FLMGTNFPNKIEKHLLPEHIRRNFTSAGDHIIIDGLHAESPDDLVREAAYKIFLYPNA
                     GQLKCLEELLSSRDLLAKLVGYSTFSHRALQGTIAKNPETVMQFLEKLSDKLSERTLK
                     DFEMIRGMKMKLNPQNSEVMPWDPPYYSGVIRAERYNIEPSLYCPFFSLGACMEGLNI
                     LLNRLLGISLYAEQPAKGEVWSEDVRKLAVVHESEGLLGYIYCDFFQRADKPHQDCHF
                     TIRGGRLKEDGDYQLPVVVLMLNLPRSSRSSPTLLTPSMMENLFHEMGHAMHSMLGRT
                     RYQHVTGTRCPTDFAEVPSILMEYFANDYRVVNQFARHYQTGQPLPKNMVSRLCESKK
                     VCAAADMQLQVFYATLDQIYHGKHPLRNSTTDILKETQEKFYGLPYVPNTAWQLRFSH
                     LVGYGARYYSYLMSRAVASMVWKECFLQDPFNRAAGERYRREMLAHGGGREPMLMVEG
                     MLQKCPSVDDFVSALVSDLDLDFETFLMDSE"
     exon            270..443
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            444..532
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            533..619
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            620..683
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            684..866
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            867..1023
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1024..1072
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1133
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1186
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1187..1340
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1341..1418
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1419..1623
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1624..1733
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1734..1808
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1809..1928
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1929..2050
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2051..2124
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     exon            2125..2381
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2360..2365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /note="hexamer: AATAAA"
     polyA_site      2381
                     /gene="MIPEP"
                     /gene_synonym="COXPD31; HMIP; MIP"
                     /note="major polyA site"
ORIGIN      
        1 ggaaacgcgg agcgcgcgct cccagcgaaa gcagcagggc agggatctgc gttggaggaa
       61 gggactgctc tggtgctaga atgctgtgcg tcggaaggct gggcggcttg ggagccagag
      121 cagcagctct gccgccccgc cgggcgggcc ggggaagcct cgaagccggg atccgggccc
      181 gaagggtcag caccagctgg tctcccgtgg gcgccgcctt caatgtcaag ccccagggca
      241 gccgcttgga cctgttcggc gagcgccggg gtctttttgg agttcctgag ctgagtgccc
      301 cagaaggatt tcatattgca caagaaaaag ccttgagaaa gacagaattg cttgtggacc
      361 gtgcatgttc caccccacct gggccccaga ccgtgctgat cttcgatgag ctctcggatt
      421 ccttatgcag agtggccgac ttggctgatt ttgtgaaaat cgctcaccct gagccagcat
      481 tcagagaagc tgcggaagaa gcttgtagaa gtattggcac catggtagag aagttgaaca
      541 caaatgtgga tttatatcaa agtttgcaaa aattactagc tgataaaaaa cttgtggatt
      601 cccttgatcc agaaacaagg cgagtggctg aactgtttat gtttgatttt gaaattagtg
      661 gaatccatct agacaaagaa aagcgtaaaa gagcagtgga cctcaatgtt aaaatcttgg
      721 atttgagtag tacatttctt atgggaacca attttcccaa caagattgag aagcatctct
      781 taccagaaca cattcgtcgt aactttacat ctgctgggga tcatatcata attgatggtc
      841 tccacgcaga atcaccagat gacttggtgc gagaagctgc ttataaaatt tttctttatc
      901 ccaatgctgg tcaattgaaa tgtttagaag aattgctcag cagcagagat cttctggcaa
      961 agttggtggg gtattccacg ttttctcaca gggctctcca aggaacgata gctaaaaatc
     1021 cagagactgt catgcagttc cttgaaaaac tatctgacaa actttctgaa agaactctga
     1081 aagattttga gatgatacga gggatgaaaa tgaaactgaa tcctcaaaat tccgaagtaa
     1141 tgccctggga ccccccttac tacagtggtg tgattcgtgc agaaaggtat aatattgagc
     1201 ccagcctata ttgcccgttt ttctctcttg gagcatgcat ggaaggcctg aatattttgc
     1261 ttaacagact gttggggatt tcattatatg cagagcagcc tgcaaaagga gaggtgtgga
     1321 gcgaagatgt ccgaaaactg gctgttgttc atgaatctga aggattgttg gggtacattt
     1381 actgtgattt ttttcagcga gcagacaaac cacatcagga ttgccatttc actatccgtg
     1441 gaggcagact aaaggaagat ggagactatc aactcccagt tgtagttctt atgctgaatc
     1501 ttccccgttc ctcaaggagt tctccaactt tgctaactcc tagcatgatg gaaaatcttt
     1561 tccatgaaat gggacatgcc atgcattcaa tgctaggacg tactcgttac caacacgtca
     1621 ctgggaccag gtgccctact gattttgctg aggttccttc tattctgatg gagtactttg
     1681 caaatgatta tcgagtagtt aaccaatttg ccagacatta tcagactgga cagccactgc
     1741 caaaaaatat ggtgtctcgt ctttgtgaat ctaaaaaggt ttgtgctgca gctgatatgc
     1801 aacttcaggt cttttatgcc actctggatc aaatctacca tgggaagcat cccctgagga
     1861 attcaaccac agacattctc aaggaaacac aagagaaatt ctatggccta ccatatgttc
     1921 caaatactgc ctggcagctg cgattcagcc acctcgtggg gtatggtgct agatattact
     1981 cttacctcat gtccagagcg gtcgcctcca tggtttggaa ggagtgtttt ctacaggatc
     2041 ctttcaacag ggctgccggg gagcgctatc gcagggagat gctggcccac ggtggaggca
     2101 gggagcccat gctcatggtt gaaggtatgc ttcagaagtg tccttctgtt gatgacttcg
     2161 taagtgccct cgtttccgac ttggatctgg acttcgaaac tttcctcatg gattctgaat
     2221 aaaagaaaca ctctacacct cttaaatcaa ggtcatgtag ataatgactt tgttataaat
     2281 gctacagctg tgagagcttg tttctgattt cattgttcgc ttctgtaatt ctgaaaaact
     2341 ttaaactggt agaacttgga ataaataatt tgttttaatt a
//
