LOCUS       NM_004279               3910 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens peptidase, mitochondrial processing subunit beta
            (PMPCB), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_004279
VERSION     NM_004279.3
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 3910)
  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   2  (bases 1 to 3910)
  AUTHORS   Jadiya,P. and Tomar,D.
  TITLE     Mitochondrial Protein Quality Control Mechanisms
  JOURNAL   Genes (Basel) 11 (5), 563 (2020)
   PUBMED   32443488
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3910)
  AUTHORS   Zheng,J.F., He,S., Zeng,Z., Gu,X., Cai,L. and Qi,G.
  TITLE     PMPCB Silencing Sensitizes HCC Tumor Cells to Sorafenib Therapy
  JOURNAL   Mol Ther 27 (10), 1784-1795 (2019)
   PUBMED   31337603
  REMARK    GeneRIF: Silencing PMPCB increased hepatocellular carcinoma (HCC)
            susceptibility to sorafenib, decreased tumor burden, and improved
            survival.  These results suggest contributory role of the PMPCB in
            sorafenib resistance.
REFERENCE   4  (bases 1 to 3910)
  AUTHORS   Vogtle,F.N., Brandl,B., Larson,A., Pendziwiat,M., Friederich,M.W.,
            White,S.M., Basinger,A., Kucukkose,C., Muhle,H., Jahn,J.A.,
            Keminer,O., Helbig,K.L., Delto,C.F., Myketin,L., Mossmann,D.,
            Burger,N., Miyake,N., Burnett,A., van Baalen,A., Lovell,M.A.,
            Matsumoto,N., Walsh,M., Yu,H.C., Shinde,D.N., Stephani,U., Van
            Hove,J.L.K., Muller,F.J. and Helbig,I.
  TITLE     Mutations in PMPCB Encoding the Catalytic Subunit of the
            Mitochondrial Presequence Protease Cause Neurodegeneration in Early
            Childhood
  JOURNAL   Am J Hum Genet 102 (4), 557-573 (2018)
   PUBMED   29576218
  REMARK    GeneRIF: biallelic mutations in PMPCB cause defects in MPP
            proteolytic activity leading to dysregulation of iron-sulfur
            cluster biogenesis and triggering a complex neurological phenotype
            of neurodegeneration in early childhood.
REFERENCE   5  (bases 1 to 3910)
  AUTHORS   Pandey,D., Bhunia,A., Oh,Y.J., Chang,F., Bergman,Y., Kim,J.H.,
            Serbo,J., Boronina,T.N., Cole,R.N., Van Eyk,J., Remaley,A.T.,
            Berkowitz,D.E. and Romer,L.H.
  TITLE     OxLDL triggers retrograde translocation of arginase2 in aortic
            endothelial cells via ROCK and mitochondrial processing peptidase
  JOURNAL   Circ Res 115 (4), 450-459 (2014)
   PUBMED   24903103
  REMARK    GeneRIF: OxLDL triggers retrograde translocation of arginase2 in
            aortic endothelial cells via ROCK and mitochondrial processing
            peptidase.
REFERENCE   6  (bases 1 to 3910)
  AUTHORS   Luczynski,W., Kowalczuk,O., Stasiak-Barmuta,A., Ilendo,E.,
            Krawczuk-Rybak,M. and Chyczewski,L.
  TITLE     Acute lymphoblastic leukemia-derived dendritic cells express tumor
            associated antigens: PNPT1, PMPCB, RHAMM, BSG and ERCC1
  JOURNAL   Neoplasma 56 (5), 428-434 (2009)
   PUBMED   19580345
  REMARK    GeneRIF: maintained expression and even up-regulation of some
            (PNPT1, PMPCB, HMMR/RHAMM, BSG and ERCC1) tumor associated antigens
            in CD40-activated leukemic cells.
REFERENCE   7  (bases 1 to 3910)
  AUTHORS   Schwer,B., North,B.J., Frye,R.A., Ott,M. and Verdin,E.
  TITLE     The human silent information regulator (Sir)2 homologue hSIRT3 is a
            mitochondrial nicotinamide adenine dinucleotide-dependent
            deacetylase
  JOURNAL   J Cell Biol 158 (4), 647-657 (2002)
   PUBMED   12186850
REFERENCE   8  (bases 1 to 3910)
  AUTHORS   Nagao,Y., Kitada,S., Kojima,K., Toh,H., Kuhara,S., Ogishima,T. and
            Ito,A.
  TITLE     Glycine-rich region of mitochondrial processing peptidase
            alpha-subunit is essential for binding and cleavage of the
            precursor proteins
  JOURNAL   J Biol Chem 275 (44), 34552-34556 (2000)
   PUBMED   10942759
REFERENCE   9  (bases 1 to 3910)
  AUTHORS   Gordon,D.M., Shi,Q., Dancis,A. and Pain,D.
  TITLE     Maturation of frataxin within mammalian and yeast mitochondria:
            one-step processing by matrix processing peptidase
  JOURNAL   Hum Mol Genet 8 (12), 2255-2262 (1999)
   PUBMED   10545606
REFERENCE   10 (bases 1 to 3910)
  AUTHORS   Koutnikova,H., Campuzano,V. and Koenig,M.
  TITLE     Maturation of wild-type and mutated frataxin by the mitochondrial
            processing peptidase
  JOURNAL   Hum Mol Genet 7 (9), 1485-1489 (1998)
   PUBMED   9700204
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP311561.1, AK000994.1,
            BC014079.2, AF054182.1, AC004668.1 and AI261792.1.
            
            On Nov 22, 2018 this sequence version replaced NM_004279.2.
            
            Summary: This gene is a member of the peptidase M16 family and
            encodes a protein with a zinc-binding motif. This protein is
            located in the mitochondrial matrix and catalyzes the cleavage of
            the leader peptides of precursor proteins newly imported into the
            mitochondria, though it only functions as part of a heterodimeric
            complex. [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 :: SRR1803615.164164.1,
                                           SRR1803615.112289.1 [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                 :: ENST00000249269.9/
                                                  ENSP00000249269.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 BP311561.1         10-18
            10-880              AK000994.1         1-871
            881-1627            BC014079.2         830-1576
            1628-1783           AF054182.1         1616-1771
            1784-3706           AC004668.1         40277-42199         c
            3707-3910           AI261792.1         21-224              c
FEATURES             Location/Qualifiers
     source          1..3910
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..3910
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /note="peptidase, mitochondrial processing subunit beta"
                     /db_xref="GeneID:9512"
                     /db_xref="HGNC:HGNC:9119"
                     /db_xref="MIM:603131"
     exon            1..124
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1495
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /EC_number="3.4.24.64"
                     /note="mitochondrial-processing peptidase subunit beta;
                     mitochondrial processing peptidase beta subunit; peptidase
                     (mitochondrial processing) beta; peptidase, mitochondrial
                     processing beta subunit"
                     /codon_start=1
                     /product="mitochondrial-processing peptidase subunit beta
                     precursor"
                     /protein_id="NP_004270.2"
                     /db_xref="CCDS:CCDS5730.1"
                     /db_xref="GeneID:9512"
                     /db_xref="HGNC:HGNC:9119"
                     /db_xref="MIM:603131"
                     /translation="MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRS
                     TQAATQVVLNVPETRVTCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHF
                     LEHMAFKGTKKRSQLDLELEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADI
                     IQNSTLGEAEIERERGVILREMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENI
                     KSISRKDLVDYITTHYKGPRIVLAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPP
                     CKFTGSEIRVRDDKMPLAHLAIAVEAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLS
                     SKLAQLTCHGNLCHSFQSFNTSYTDTGLWGLYMVCESSTVADMLHVVQKEWMRLCTSV
                     TESEVARARNLLKTNMLLQLDGSTPICEDIGRQMLCYNRRIPIPELEARIDAVNAETI
                     REVCTKYIYNRSPAIAAVGPIKQLPDFKQIRSNMCWLRD"
     exon            125..265
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     exon            266..352
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     exon            353..482
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     exon            483..681
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     exon            682..761
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     exon            762..874
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     exon            875..1018
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1179
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1265
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1354
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     exon            1355..1430
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..3910
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1553..1558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /note="hexamer: AATAAA"
     polyA_site      1576
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /note="major polyA site"
     regulatory      1590..1595
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /note="hexamer: ATTAAA"
     regulatory      1617..1622
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /note="hexamer: GATAAA"
     polyA_site      1618
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /note="major polyA site"
     polyA_site      1639
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /note="major polyA site"
     regulatory      1765..1770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /note="hexamer: TATAAA"
     polyA_site      1787
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
     regulatory      2149..2154
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /note="hexamer: TATAAA"
     polyA_site      2174
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
     regulatory      2441..2446
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /note="hexamer: AATAAA"
     polyA_site      2465
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
     regulatory      3816..3821
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /note="hexamer: AATAAA"
     polyA_site      3836
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
     regulatory      3881..3886
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
                     /note="hexamer: ATTAAA"
     polyA_site      3910
                     /gene="PMPCB"
                     /gene_synonym="Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52"
ORIGIN      
        1 atcctctacc ttccttctag cagaaatggc ggctgcggcg gctcgagtgg tgttgtcatc
       61 cgcggcgcgg cggcggctct ggggtttcag cgagagtctt ctaatccgag gcgctgcggg
      121 acggtcatta tattttggag agaacagatt aagaagtaca caggctgcta cccaagttgt
      181 tctgaatgtt cctgaaacaa gagtaacatg tttagaaagt ggactcagag tagcttcgga
      241 agactctggg ctctcaacat gcacagttgg actctggatt gatgctggaa gtagatacga
      301 aaatgagaag aacaatggaa cagcacactt tctggagcat atggctttca agggcaccaa
      361 gaagagatcc cagttagatc tggaacttga gattgaaaat atgggtgctc atctcaatgc
      421 ctatacctcc agagagcaga ctgtatacta tgccaaagca ttctctaaag acttgccaag
      481 agctgtagaa attcttgctg atataataca aaacagcaca ttgggagaag cagagattga
      541 acgtgagcgt ggagtaatcc ttagagagat gcaggaagtt gaaaccaatt tacaagaagt
      601 tgtttttgat tatcttcatg ccacagctta tcaaaatact gcacttggac ggacaatttt
      661 gggaccaact gaaaatatca aatctataag tcgtaaggac ttagtggatt atataaccac
      721 acattataag gggccaagaa tagtgcttgc tgctgctgga ggtgtttccc atgatgaatt
      781 gcttgactta gcaaagtttc atttcggtga ctctttatgc acacacaaag gagaaatacc
      841 agctctgcct ccctgcaaat tcacaggaag tgagattcgt gtgagggatg acaagatgcc
      901 tttggcgcac cttgcaatag ctgttgaagc tgttggttgg gcacatccag atacaatctg
      961 tctcatggtt gcaaacacgc tgattggcaa ctgggatcgc tcttttgggg gaggaatgaa
     1021 tttatctagc aagctggccc agctcacttg tcatggcaat ctttgccata gctttcagtc
     1081 tttcaacact tcctacacag atacaggatt atggggactg tatatggttt gtgaatcatc
     1141 cactgttgca gacatgctac atgttgttca aaaagaatgg atgcgactct gtacaagtgt
     1201 cacagaaagt gaggttgcac gagccagaaa tcttctgaaa acaaacatgt tgttgcagct
     1261 tgatggttca actccaattt gtgaagatat tggtaggcaa atgttatgct ataatagaag
     1321 gattcccatc cctgagcttg aagcaagaat tgatgctgtg aatgctgaga caattcgaga
     1381 agtatgtacc aaatacattt ataataggag tccagctatt gctgctgttg gtcccattaa
     1441 gcaactacca gattttaaac agatacgcag taacatgtgt tggcttcgtg attaaaatgc
     1501 tcctaatcaa gattgtttga acacatgtat ttataaaaca gagctagaga aaaataaaaa
     1561 tgaacatgta tatacatttg gaaatttgaa ttaaatactg tatcatactt tcaaaggata
     1621 aaaagactac ccctctgaag gttgttttgt attaatggtc agtctttgtt ctctgagaaa
     1681 ttatgttgga agcagcatac tttcaaatta ttaccatgag tataatttta agaatgaaaa
     1741 tgtttacagt attttcagtt ttattataaa aatgcacaca caacaaagat tgtcatttct
     1801 tggctctact tgcattcagc acttgttctt gagcagcttt ctttgctttt accatctcga
     1861 caagttccta ggaagggaga aaggtgtgat ttaagaagtt gcgatttaaa aacagacatt
     1921 ttaatctagt gtttggtgta aagaattcaa gcaactaaga tagatagtac taaatatact
     1981 gatttcatta tctgccaggg cctagaaagt ttctaaggtt gctcatttct tcctcataat
     2041 attgacccca taactactgg ttttgaaata agcactatat tattaaccac ttaatagaca
     2101 taaaatatga gctatatcac ccaagctaca atttaaaata caacaatcta taaacgctta
     2161 agtctgcaac cttgtatcgt ttcatgcagt ccttctttgt cctgccaggc accgcttctg
     2221 ctattttttc ccatctttca ggtgtattta ctgggtatgt tttcaaagct tgttccaaaa
     2281 gcttctgttc ttctgttgtc caaggggtga agtctgtata tggacctgat taagaaaaat
     2341 ttttatttga aaactgtctt tgaacatgtt ctcagacaag tcttgtggtc cacaagtatt
     2401 cgctaagtgc ccatttcaat ctgggatgtg tcattttgaa aataaacttg tagagatgag
     2461 agatacatat agccctctga gtgttaataa gagaaaaaat ttcagatagc tcacatccca
     2521 gaaaataaaa tctcaaaggc ttttaaaaca caatagtaaa gatctacctt gtactgttta
     2581 tctcttaaaa atcaatgtaa tacactcacc agactggtaa aaagccatat ttaaatttat
     2641 agtactgttg gactcttgga ctcaaaaaca caaccacaat tcattaagag ttctgataaa
     2701 tctacttcct tacagaatag gtaaaagagc ttcctcacag ttaaactttt gctggataga
     2761 aaccctggaa atcattcttg ttttacactg aaggaaacaa acctagcaaa attaagccaa
     2821 gtgcccaagg taccagtgct ggagaggcaa gctgagatta gattgtgttg tagtgtggtg
     2881 ttctcttcgt cacatctgct aaaatcttgg gagccgatgc tgaacacttc caataactgc
     2941 tattgtggtt cttcaactaa accttgtata tttcagaaaa catctaagat gtgtgtcaga
     3001 aacaaatatg tttcttaagg atgttaagta ttacacagtc cacttgtgta ggtaaaagta
     3061 gaatgttaag tggtagaaag ctgatttggt taagttaatg gacttctggc aatttagtta
     3121 tttcagacta tgcagtgaca acacagacta atactaccag tagcctgact actactagaa
     3181 actgcggcct gtgagatctg ttaaaagtta agcctagaaa ccaaagttcc ttcccaatta
     3241 aagaaggaaa aacaaaacaa aacaaaacaa aaccaccacc tattcaaaac aaagcagaga
     3301 atttgtataa tatttgatgg tacctaaggt gcctaagaag cttttttgaa ggtagctttt
     3361 aagttctagg aagtcttttg ttgaatttcc ttgtattggt ttaaagccct aaataccata
     3421 gattttattt cctctcttgg aaaaaagatg gaagtgacat ggcagtattt cctgctgttc
     3481 tccagttact tcacaatacc aaaataaatt aaacgtactg ttgcaaaact cctatgagaa
     3541 atcactattc aaaaaatggt gccagcttgc tgtttaatgg tacaactgaa gaggaaggag
     3601 ccttcccatt tccataaaag aggcaaagga gtcataccca catagcacta ctgccagtca
     3661 ctcttgcctt cacagggtca cctctcctca cagaaagcag actggacaaa tatcagggcc
     3721 cacctccctc caacatggaa acaagtcccc ctaagaaaga gctgagacta gtgtgctaat
     3781 acctgttgta ttttgtggag ataaaggtgc aggagaataa actcctttat aaagaagtgt
     3841 ctttcaggtg ttctgaaacc ctgccttgtt acttaccttt attaaaagaa ccgaaataat
     3901 gcctaactca
//
