LOCUS       NM_001347728            3422 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), transcript
            variant 7, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001347728
VERSION     NM_001347728.2
KEYWORDS    RefSeq.
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 3422)
  AUTHORS   Wilson Alphonse,C.R., Rajesh Kannan,R. and Nagarajan,N.
  TITLE     PITRM1 interaction studies with amyloidogenic nonapeptide mutants
            of familial Alzheimer's disease
  JOURNAL   J Biomol Struct Dyn 41 (12), 5660-5671 (2023)
   PUBMED   35751131
  REMARK    GeneRIF: PITRM1 interaction studies with amyloidogenic nonapeptide
            mutants of familial Alzheimer's disease.
REFERENCE   2  (bases 1 to 3422)
  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 3422)
  AUTHORS   Perez,M.J., Ivanyuk,D., Panagiotakopoulou,V., Di Napoli,G.,
            Kalb,S., Brunetti,D., Al-Shaana,R., Kaeser,S.A., Fraschka,S.A.,
            Jucker,M., Zeviani,M., Viscomi,C. and Deleidi,M.
  TITLE     Loss of function of the mitochondrial peptidase PITRM1 induces
            proteotoxic stress and Alzheimer's disease-like pathology in human
            cerebral organoids
  JOURNAL   Mol Psychiatry 26 (10), 5733-5750 (2021)
   PUBMED   32632204
  REMARK    GeneRIF: Loss of function of the mitochondrial peptidase PITRM1
            induces proteotoxic stress and Alzheimer's disease-like pathology
            in human cerebral organoids.
REFERENCE   4  (bases 1 to 3422)
  AUTHORS   Du,F., Yu,Q., Yan,S., Zhang,Z., Vangavaragu,J.R., Chen,D., Yan,S.F.
            and Yan,S.S.
  TITLE     Gain of PITRM1 peptidase in cortical neurons affords protection of
            mitochondrial and synaptic function in an advanced age mouse model
            of Alzheimer's disease
  JOURNAL   Aging Cell 20 (5), e13368 (2021)
   PUBMED   33951271
  REMARK    GeneRIF: Gain of PITRM1 peptidase in cortical neurons affords
            protection of mitochondrial and synaptic function in an advanced
            age mouse model of Alzheimer's disease.
REFERENCE   5  (bases 1 to 3422)
  AUTHORS   Minchenko,D.O., Khita,O.O., Tsymbal,D.O., Danilovskyi,S.V.,
            Rudnytska,O.V., Halkin,O.V., Kryvdiuk,I.V., Smeshkova,M.V.,
            Yakymchuk,M.M., Bezrodnyi,B.H. and Minchenko,O.H.
  TITLE     Expression of IDE and PITRM1 genes in ERN1 knockdown U87 glioma
            cells: effect of hypoxia and glucose deprivation
  JOURNAL   Endocr Regul 54 (3), 183-195 (2020)
   PUBMED   32857715
  REMARK    GeneRIF: Expression of IDE and PITRM1 genes in ERN1 knockdown U87
            glioma cells: effect of hypoxia and glucose deprivation.
REFERENCE   6  (bases 1 to 3422)
  AUTHORS   Pinho,C.M., Bjork,B.F., Alikhani,N., Backman,H.G., Eneqvist,T.,
            Fratiglioni,L., Glaser,E. and Graff,C.
  TITLE     Genetic and biochemical studies of SNPs of the mitochondrial A
            beta-degrading protease, hPreP
  JOURNAL   Neurosci Lett 469 (2), 204-208 (2010)
   PUBMED   19962426
  REMARK    GeneRIF: our data suggest that genetic variation in the hPreP gene
            PITRM1 may potentially contribute to mitochondrial dysfunctions
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3422)
  AUTHORS   Chow,K.M., Gakh,O., Payne,I.C., Juliano,M.A., Juliano,L., Isaya,G.
            and Hersh,L.B.
  TITLE     Mammalian pitrilysin: substrate specificity and mitochondrial
            targeting
  JOURNAL   Biochemistry 48 (13), 2868-2877 (2009)
   PUBMED   19196155
  REMARK    GeneRIF: The substrate specificity of the mitochondrial
            metallopeptidase proteinase 1 (MP1) was investigated and its
            mitochondrial targeting signal identified.
REFERENCE   8  (bases 1 to 3422)
  AUTHORS   Falkevall,A., Alikhani,N., Bhushan,S., Pavlov,P.F., Busch,K.,
            Johnson,K.A., Eneqvist,T., Tjernberg,L., Ankarcrona,M. and
            Glaser,E.
  TITLE     Degradation of the amyloid beta-protein by the novel mitochondrial
            peptidasome, PreP
  JOURNAL   J Biol Chem 281 (39), 29096-29104 (2006)
   PUBMED   16849325
REFERENCE   9  (bases 1 to 3422)
  AUTHORS   Mzhavia,N., Berman,Y.L., Qian,Y., Yan,L. and Devi,L.A.
  TITLE     Cloning, expression, and characterization of human metalloprotease
            1: a novel member of the pitrilysin family of metalloendoproteases
  JOURNAL   DNA Cell Biol 18 (5), 369-380 (1999)
   PUBMED   10360838
REFERENCE   10 (bases 1 to 3422)
  AUTHORS   Schaeffer,H.J., Catling,A.D., Eblen,S.T., Collier,L.S., Krauss,A.
            and Weber,M.J.
  TITLE     MP1: a MEK binding partner that enhances enzymatic activation of
            the MAP kinase cascade
  JOURNAL   Science 281 (5383), 1668-1671 (1998)
   PUBMED   9733512
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL451164.13.
            
            On May 31, 2019 this sequence version replaced NM_001347728.1.
            
            Summary: The protein encoded by this gene is an ATP-dependent
            metalloprotease that degrades post-cleavage mitochondrial transit
            peptides. The encoded protein binds zinc and can also degrade
            amyloid beta A4 protein, suggesting a possible role in Alzheimer's
            disease. [provided by RefSeq, Dec 2016].
            
            Transcript Variant: This variant (7) encodes isoform 7, which
            likely does not localize to the mitochondrion.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: DRR138506.18215.1,
                                           SRR1660807.12954.1 [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
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-66                AL451164.13        72974-73039         c
            67-169              AL451164.13        70361-70463         c
            170-276             AL451164.13        67193-67299         c
            277-428             AL451164.13        66486-66637         c
            429-543             AL451164.13        65670-65784         c
            544-640             AL451164.13        65495-65591         c
            641-801             AL451164.13        63982-64142         c
            802-928             AL451164.13        60461-60587         c
            929-1017            AL451164.13        60105-60193         c
            1018-1146           AL451164.13        59171-59299         c
            1147-1255           AL451164.13        58302-58410         c
            1256-1352           AL451164.13        57692-57788         c
            1353-1487           AL451164.13        57187-57321         c
            1488-1626           AL451164.13        55848-55986         c
            1627-1743           AL451164.13        51504-51620         c
            1744-1876           AL451164.13        49878-50010         c
            1877-1997           AL451164.13        48428-48548         c
            1998-2074           AL451164.13        48244-48320         c
            2075-2240           AL451164.13        47829-47994         c
            2241-2341           AL451164.13        47407-47507         c
            2342-2462           AL451164.13        45853-45973         c
            2463-2537           AL451164.13        44549-44623         c
            2538-2650           AL451164.13        43646-43758         c
            2651-2776           AL451164.13        40944-41069         c
            2777-2922           AL451164.13        39161-39306         c
            2923-3025           AL451164.13        38492-38594         c
            3026-3422           AL451164.13        37985-38381         c
FEATURES             Location/Qualifiers
     source          1..3422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p15.2"
     gene            1..3422
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /note="pitrilysin metallopeptidase 1"
                     /db_xref="GeneID:10531"
                     /db_xref="HGNC:HGNC:17663"
                     /db_xref="MIM:618211"
     exon            1..66
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            67..169
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            170..276
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            277..428
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            429..543
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            544..640
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            641..801
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            802..928
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1017
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1146
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1255
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            1256..1352
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     CDS             1311..3119
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /note="isoform 7 is encoded by transcript variant 7;
                     pitrilysin metalloproteinase 1; PreP peptidasome;
                     metalloprotease 1 (pitrilysin family); presequence
                     protease, mitochondrial"
                     /codon_start=1
                     /product="presequence protease, mitochondrial isoform 7"
                     /protein_id="NP_001334657.1"
                     /db_xref="GeneID:10531"
                     /db_xref="HGNC:HGNC:17663"
                     /db_xref="MIM:618211"
                     /translation="MKHQSTSFGLMLTSYIASCWNHDGDPVELLKLGNQLAKFRQCLQ
                     ENPKFLQEKVKQYFKNNQHKLTLSMRPDDKYHEKQAQVEATKLKQKVEALSPGDRQQI
                     YEKGLELRSQQSKPQDASCLPALKVSDIEPTIPVTELDVVLTAGDIPVQYCAQPTNGM
                     VYFRAFSSLNTLPEELRPYVPLFCSVLTKLGCGLLDYREQAQQIELKTGGMSASPHVL
                     PDDSHMDTYEQGVLFSSLCLDRNLPDMMQLWSEIFNNPCFEEEEHFKVLVKMTAQELA
                     NGIPDSGHLYASIRAGRTLTPAGDLQETFSGMDQVRLMKRIAEMTDIKPILRKLPRIK
                     KHLLNGDNMRCSVNATPQQMPQTEKAVEDFLRSIGRSKKERRPVRPHTVEKPVPSSSG
                     GDAHVPHGSQVIRKLVMEPTFKPWQMKTHFLMPFPVNYVGECIRTVPYTDPDHASLKI
                     LARLMTAKFLHTEIREKGGAYGGGAKLSHNGIFTLYSYRDPNTIETLQSFGKAVDWAK
                     SGKFTQQDIDEAKLSVFSTVDAPVAPSDKGMDHFLYGLSDEMKQAHREQLFAVSHDKL
                     LAVSDRYLGTGKSTHGLAILGPENPKIAKDPSWIIQ"
     exon            1353..1487
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            1488..1626
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            1627..1743
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..1876
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            1877..1997
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            1998..2074
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            2075..2240
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            2241..2341
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            2342..2462
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            2463..2537
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            2538..2650
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            2651..2776
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            2777..2922
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            2923..3025
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     exon            3026..3422
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3400..3405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /note="hexamer: AATAAA"
     polyA_site      3422
                     /gene="PITRM1"
                     /gene_synonym="MP1; PreP; SCAR30"
                     /note="major polyA site"
ORIGIN      
        1 gtcatgcgca atgtggcgct gcggcgggcg gcagggcctg tgtgtgctga ggcggctgag
       61 cggcggacat gcacaccaca gagcgtggcg atggaacagt aaccgggctt gtgagagggc
      121 tctgcagtat aaactaggag acaagatcca tggattcacc gtaaaccagg tgacatctgt
      181 tcccgagctg ttcctgactg cagtgaagct cacccatgat gacacaggag ccaggtattt
      241 acacctggcc agagaagaca cgaataatct gttcagcgtg cagttccgta ctactcccat
      301 ggacagtact ggtgttcctc acattcttga gcataccgtc ctttgtgggt ctcagaaata
      361 tccgtgcaga gaccctttct tcaaaatgtt gaaccggtcc ctctccacgt tcatgaacgc
      421 cttcacagct agtgattata ctctgtatcc attttccaca caaaatccca aggactttca
      481 gaatctcctc tcggtgtatt tggatgccac ctttttccca tgtttacgcg agctggattt
      541 ctggcaggaa ggatggcggc tggaacatga gaatccgagc gacccccaga cgcccttggt
      601 ctttaaagga gtcgtcttta atgagatgaa gggagcgttt acagacaatg agaggatatt
      661 ctcccagcac cttcagaaca gacttcttcc tgaccacacg tactcagtgg tctccggggg
      721 tgacccactg tgcatcccgg agcttacatg ggagcagctt aagcagtttc atgccactca
      781 ctatcaccca agcaatgcta ggttcttcac gtacggtaat tttccattag aacagcatct
      841 gaaacaaatt cacgaggaag cactgagcaa attccagaaa attgaaccaa gcaccgtggt
      901 gccagctcag acaccctggg acaagcctag ggaattccag ataacatgtg gcccggattc
      961 atttgctaca gatccctcta aacaaacaac catcagcgtt agcttcctct taccggacat
     1021 caccgacaca tttgaagcct tcacattaag tcttctgtct tcactcttga cttctgggcc
     1081 caattctccc ttttacaaag ccttgattga atctggcctt ggcacagact tttctcctga
     1141 tgttggatat aatggctaca cgagggaggc ctactttagt gtcggcctcc aagggattgc
     1201 ggagaaagac attgagaccg tcagaagcct catagacaga acgattgatg aagtagaaag
     1261 gatttgaaga tgatcgaatt gaggctttac ttcataaaat tgaaatacag atgaaacatc
     1321 agtctaccag ctttgggctg atgctgacat catacatagc ttcttgctgg aaccatgatg
     1381 gggaccctgt ggagctcttg aagttgggaa atcagttagc taaattcaga cagtgcctgc
     1441 aggaaaatcc aaaatttttg caagaaaaag taaaacagta ttttaagaat aaccagcata
     1501 agctgacttt atcgatgagg ccagatgaca agtatcacga gaagcaggca caggtggaag
     1561 ccacgaagct caagcagaag gtcgaggctc tgtcccccgg agacaggcag cagatctacg
     1621 agaaaggtct agaattacgg agtcaacaaa gcaaacctca agatgcctct tgtctgccag
     1681 cgttgaaagt ttccgatatt gaacccacca tacctgtcac agagttggac gtggtcctga
     1741 cagctggaga tatccctgtt cagtactgcg cccagcccac caatggcatg gtgtatttcc
     1801 gggccttctc cagcctgaac acactccccg aggagctgag gccctatgtg cccctcttct
     1861 gcagcgtcct caccaagctg ggctgcggcc ttcttgacta ccgggagcag gctcagcaga
     1921 tagaattgaa gaccggaggg atgagtgctt ctccccacgt gctccccgac gactcacaca
     1981 tggacaccta cgagcagggt gtgcttttct cctctctctg cctggatcga aacctgccag
     2041 acatgatgca gctatggagt gaaatattta acaacccgtg ctttgaagaa gaggagcact
     2101 tcaaggtgct ggtgaagatg accgcccagg agctcgccaa tggaattcct gactctgggc
     2161 acctgtacgc atccatcagg gcaggccgga ccctcacgcc cgcaggggac ctgcaggaga
     2221 ccttcagcgg gatggatcag gtgcggctga tgaagaggat tgcagaaatg acagatatca
     2281 aacccatcct gaggaagctc ccgcgtatca agaaacactt gttaaatggt gataatatga
     2341 ggtgttcagt gaatgcgact cctcagcaga tgcctcagac agaaaaagcg gtcgaagact
     2401 tccttagaag catcggtcgg agtaaaaagg aacggaggcc tgtgcgccca cacacggtcg
     2461 agaaacctgt gcccagcagc tctggtggag atgcccacgt tccccatggc tcccaggtca
     2521 ttaggaagct ggtcatggaa cccaccttca agccctggca gatgaagact cacttcctga
     2581 tgcccttccc ggtgaattac gtgggtgaat gcatccgaac tgtcccctac acggacccag
     2641 atcatgccag tcttaaaatc cttgcacgtt tgatgactgc caaattcttg catacagaaa
     2701 ttcgagaaaa aggcggtgct tatggtggag gcgcaaaact cagccacaat gggattttca
     2761 ccctttactc ttacagggac ccaaatacaa tagagacgct ccagtctttt gggaaggctg
     2821 tcgactgggc taagtctgga aaattcacac agcaagacat cgacgaagcc aaactttctg
     2881 tcttctcaac cgtagatgct cctgtcgctc cttcagacaa aggaatggac cacttcttgt
     2941 acggcctctc ggatgagatg aagcaggccc acagagagca gctctttgct gtcagccacg
     3001 acaagctcct ggccgtgagc gatagatacc tcggcactgg gaagagcaca cacggcctgg
     3061 ccatcctcgg acccgagaac ccgaaaattg ccaaggaccc atcctggatc atccaatgag
     3121 cagccgtggc gctcgactgc acaggagccc gagacaatac acctccgagc tgaatatgaa
     3181 aagtcagaaa tgctactgct ttttccaaga atattatgtc attgagtgtc gccaaagccc
     3241 ttgactggcg agtcaaaaac tcagatctat cttaagagtg accaggaaga ggttcattga
     3301 aataatcatg catgaagcgc caaagatgca ccatgtagaa ttttcacttt gtactggcag
     3361 gctcgtttta cctcattcta gaatatttaa gaatctaaaa ataaagggca actctgactt
     3421 aa
//
