LOCUS       NM_001304274             733 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens inner mitochondrial membrane peptidase subunit 1
            (IMMP1L), transcript variant 2, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001304274 XM_005252811
VERSION     NM_001304274.2
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 733)
  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 733)
  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 733)
  AUTHORS   Hoffmann,T.J., Tang,H., Thornton,T.A., Caan,B., Haan,M.,
            Millen,A.E., Thomas,F. and Risch,N.
  TITLE     Genome-wide association and admixture analysis of glaucoma in the
            Women's Health Initiative
  JOURNAL   Hum Mol Genet 23 (24), 6634-6643 (2014)
   PUBMED   25027321
REFERENCE   4  (bases 1 to 733)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 733)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 733)
  AUTHORS   Taylor,T.D., Noguchi,H., Totoki,Y., Toyoda,A., Kuroki,Y., Dewar,K.,
            Lloyd,C., Itoh,T., Takeda,T., Kim,D.W., She,X., Barlow,K.F.,
            Bloom,T., Bruford,E., Chang,J.L., Cuomo,C.A., Eichler,E.,
            FitzGerald,M.G., Jaffe,D.B., LaButti,K., Nicol,R., Park,H.S.,
            Seaman,C., Sougnez,C., Yang,X., Zimmer,A.R., Zody,M.C.,
            Birren,B.W., Nusbaum,C., Fujiyama,A., Hattori,M., Rogers,J.,
            Lander,E.S. and Sakaki,Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   7  (bases 1 to 733)
  AUTHORS   Burri,L., Strahm,Y., Hawkins,C.J., Gentle,I.E., Puryer,M.A.,
            Verhagen,A., Callus,B., Vaux,D. and Lithgow,T.
  TITLE     Mature DIABLO/Smac is produced by the IMP protease complex on the
            mitochondrial inner membrane
  JOURNAL   Mol Biol Cell 16 (6), 2926-2933 (2005)
   PUBMED   15814844
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB288287.1 and BC023595.2.
            
            On Nov 23, 2018 this sequence version replaced NM_001304274.1.
            
            Summary: The mitochondrial inner membrane peptidase (IMP) complex
            generates mature, active proteins in the mitochondrial
            intermembrane space by proteolytically removing the mitochondrial
            targeting presequence of nuclear-encoded proteins. IMP1 and IMP2
            (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex
            (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM, Sep
            2008].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' UTR compared to variant 1. Both variants 1 and 2 encode the same
            protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.518135.1,
                                           SRR1163658.81995.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000532287.6/
                                                  ENSP00000435576.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                DB288287.1         7-54
            49-733              BC023595.2         1-685
FEATURES             Location/Qualifiers
     source          1..733
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..733
                     /gene="IMMP1L"
                     /gene_synonym="IMMP1; IMP1; IMP1-LIKE"
                     /note="inner mitochondrial membrane peptidase subunit 1"
                     /db_xref="GeneID:196294"
                     /db_xref="HGNC:HGNC:26317"
                     /db_xref="MIM:612323"
     exon            1..104
                     /gene="IMMP1L"
                     /gene_synonym="IMMP1; IMP1; IMP1-LIKE"
                     /inference="alignment:Splign:2.1.0"
     exon            105..238
                     /gene="IMMP1L"
                     /gene_synonym="IMMP1; IMP1; IMP1-LIKE"
                     /inference="alignment:Splign:2.1.0"
     CDS             134..634
                     /gene="IMMP1L"
                     /gene_synonym="IMMP1; IMP1; IMP1-LIKE"
                     /note="IMP1 inner mitochondrial membrane peptidase-like"
                     /codon_start=1
                     /product="mitochondrial inner membrane protease subunit 1"
                     /protein_id="NP_001291203.1"
                     /db_xref="CCDS:CCDS7874.1"
                     /db_xref="GeneID:196294"
                     /db_xref="HGNC:HGNC:26317"
                     /db_xref="MIM:612323"
                     /translation="MLRGVLGKTFRLVGYTIQYGCIAHCAFEYVGGVVMCSGPSMEPT
                     IQNSDIVFAENLSRHFYGIQRGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSDFF
                     KSHSYVPMGHVWLEGDNLQNSTDSRCYGPIPYGLIRGRIFFKIWPLSDFGFLRASPNG
                     HRFSDD"
     exon            239..327
                     /gene="IMMP1L"
                     /gene_synonym="IMMP1; IMP1; IMP1-LIKE"
                     /inference="alignment:Splign:2.1.0"
     exon            328..454
                     /gene="IMMP1L"
                     /gene_synonym="IMMP1; IMP1; IMP1-LIKE"
                     /inference="alignment:Splign:2.1.0"
     exon            455..565
                     /gene="IMMP1L"
                     /gene_synonym="IMMP1; IMP1; IMP1-LIKE"
                     /inference="alignment:Splign:2.1.0"
     exon            566..733
                     /gene="IMMP1L"
                     /gene_synonym="IMMP1; IMP1; IMP1-LIKE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      714..719
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMMP1L"
                     /gene_synonym="IMMP1; IMP1; IMP1-LIKE"
                     /note="hexamer: AATAAA"
     polyA_site      733
                     /gene="IMMP1L"
                     /gene_synonym="IMMP1; IMP1; IMP1-LIKE"
                     /note="major polyA site"
ORIGIN      
        1 gaaaagtgcg ccctacgaaa ggacggtcga cttcggcggg gcccaggtga gaaaggccca
       61 cctgtgtcct ggttgagggt ctccagggtt ctttggggcc cgaggccaat ggtggcagag
      121 tctacataga actatgcttc gtggtgttct ggggaaaacc tttcgacttg ttggctatac
      181 tattcaatat ggctgtatag ctcattgtgc ttttgaatac gttggtggtg ttgtcatgtg
      241 ttctggacca tcaatggagc ctacaattca aaattcagat attgtctttg cagaaaatct
      301 tagtcgacat ttttatggta tccaaagagg tgacattgtg attgcaaaaa gcccaagtga
      361 tccaaaatca aatatttgta aaagagtaat tggtttggaa ggagacaaaa tcctcaccac
      421 tagtccatca gatttcttta aaagccatag ttatgtgcca atgggtcatg tttggttaga
      481 aggtgacaat ctacagaatt ctacagattc caggtgctat ggacctattc catatggact
      541 aataagagga cgaatcttct ttaagatttg gcctctgagt gattttggat ttttacgtgc
      601 cagccctaat ggccacagat tttctgatga ttagtaagca tttattcttt tgacttgatt
      661 attgtctcct tttcatgtga atttattact cccgttgaaa ccgtgtactt accaataaac
      721 tatttgctat tca
//
