LOCUS       NM_032549               2130 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens inner mitochondrial membrane peptidase subunit 2
            (IMMP2L), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_032549
VERSION     NM_032549.4
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 2130)
  AUTHORS   Yoshikawa,A., Kushima,I., Miyashita,M., Suzuki,K., Iino,K.,
            Toriumi,K., Horiuchi,Y., Kawaji,H., Ozaki,N., Itokawa,M. and
            Arai,M.
  TITLE     Exonic deletions in IMMP2L in schizophrenia with enhanced glycation
            stress subtype
  JOURNAL   PLoS One 17 (7), e0270506 (2022)
   PUBMED   35776734
  REMARK    GeneRIF: Exonic deletions in IMMP2L in schizophrenia with enhanced
            glycation stress subtype.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2130)
  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 2130)
  AUTHORS   Vasilyev,S.A., Skryabin,N.A., Kashevarova,A.A., Tolmacheva,E.N.,
            Savchenko,R.R., Vasilyeva,O.Y., Lopatkina,M.E., Zarubin,A.A.,
            Fishman,V.S., Belyaeva,E.O., Filippova,M.O., Shorina,A.R.,
            Maslennikov,A.B., Shestovskikh,O.L., Gayner,T.A., Culic,V.,
            Vulic,R., Nazarenko,L.P. and Lebedev,I.N.
  TITLE     Differential DNA Methylation of the IMMP2L Gene in Families with
            Maternally Inherited 7q31.1 Microdeletions is Associated with
            Intellectual Disability and Developmental Delay
  JOURNAL   Cytogenet Genome Res 161 (3-4), 105-119 (2021)
   PUBMED   33849037
  REMARK    GeneRIF: Differential DNA Methylation of the IMMP2L Gene in
            Families with Maternally Inherited 7q31.1 Microdeletions is
            Associated with Intellectual Disability and Developmental Delay.
REFERENCE   4  (bases 1 to 2130)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2130)
  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   6  (bases 1 to 2130)
  AUTHORS   Maestrini,E., Pagnamenta,A.T., Lamb,J.A., Bacchelli,E., Sykes,N.H.,
            Sousa,I., Toma,C., Barnby,G., Butler,H., Winchester,L.,
            Scerri,T.S., Minopoli,F., Reichert,J., Cai,G., Buxbaum,J.D.,
            Korvatska,O., Schellenberg,G.D., Dawson,G., de Bildt,A.,
            Minderaa,R.B., Mulder,E.J., Morris,A.P., Bailey,A.J. and
            Monaco,A.P.
  CONSRTM   IMGSAC
  TITLE     High-density SNP association study and copy number variation
            analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4
            gene region in autism susceptibility
  JOURNAL   Mol Psychiatry 15 (9), 954-968 (2010)
   PUBMED   19401682
  REMARK    GeneRIF: AUTS1/AUTS5 linkage to immp2l-dock4 may be involved in
            autism susceptibility
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2130)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2130)
  AUTHORS   de Krom,M., Staal,W.G., Ophoff,R.A., Hendriks,J., Buitelaar,J.,
            Franke,B., de Jonge,M.V., Bolton,P., Collier,D., Curran,S., van
            Engeland,H. and van Ree,J.M.
  TITLE     A common variant in DRD3 receptor is associated with autism
            spectrum disorder
  JOURNAL   Biol Psychiatry 65 (7), 625-630 (2009)
   PUBMED   19058789
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2130)
  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
REFERENCE   10 (bases 1 to 2130)
  AUTHORS   Petek,E., Windpassinger,C., Vincent,J.B., Cheung,J., Boright,A.P.,
            Scherer,S.W., Kroisel,P.M. and Wagner,K.
  TITLE     Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31
            associated with Tourette syndrome
  JOURNAL   Am J Hum Genet 68 (4), 848-858 (2001)
   PUBMED   11254443
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092613.2, AC005166.1,
            AC006392.1, AC005161.1 and AC073326.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 26, 2019 this sequence version replaced NM_032549.3.
            
            Summary: This gene encodes a protein involved in processing the
            signal peptide sequences used to direct mitochondrial proteins to
            the mitochondria. The encoded protein resides in the mitochondria
            and is one of the necessary proteins for the catalytic activity of
            the mitochondrial inner membrane peptidase (IMP) complex. Two
            variants that encode the same protein have been described for this
            gene. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1), as well as variants 2-4,
            encodes isoform a.
            
            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 :: AF359563.1, SRR14038191.3663024.1
                                           [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                 :: ENST00000405709.7/
                                                  ENSP00000384966.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-642               AC092613.2         16064-16705         c
            643-779             AC005166.1         81772-81908         c
            780-883             AC005166.1         47697-47800         c
            884-949             AC006392.1         25999-26064         c
            950-1052            AC005161.1         44634-44736         c
            1053-2130           AC073326.6         83985-85062         c
FEATURES             Location/Qualifiers
     source          1..2130
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q31.1"
     gene            1..2130
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /note="inner mitochondrial membrane peptidase subunit 2"
                     /db_xref="GeneID:83943"
                     /db_xref="HGNC:HGNC:14598"
                     /db_xref="MIM:605977"
     exon            1..642
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /inference="alignment:Splign:2.1.0"
     exon            643..779
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /inference="alignment:Splign:2.1.0"
     CDS             645..1172
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /note="isoform a is encoded by transcript variant 1; inner
                     mitochondrial membrane peptidase 2 like; mitochondrial
                     inner membrane protease subunit 2; IMP2 inner
                     mitochondrial membrane peptidase-like; IMP2 inner
                     mitochondrial membrane protease-like"
                     /codon_start=1
                     /product="mitochondrial inner membrane protease subunit 2
                     isoform a"
                     /protein_id="NP_115938.1"
                     /db_xref="CCDS:CCDS5753.1"
                     /db_xref="GeneID:83943"
                     /db_xref="HGNC:HGNC:14598"
                     /db_xref="MIM:605977"
                     /translation="MAQSQGWVKRYIKAFCKGFFVAVPVAVTFLDRVACVARVEGASM
                     QPSLNPGGSQSSDVVLLNHWKVRNFEVHRGDIVSLVSPKNPEQKIIKRVIALEGDIVR
                     TIGHKNRYVKVPRGHIWVEGDHHGHSFDSNSFGPVSLGLLHAHATHILWPPERWQKLE
                     SVLPPERLPVQREEE"
     exon            780..883
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /inference="alignment:Splign:2.1.0"
     exon            884..949
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /inference="alignment:Splign:2.1.0"
     exon            950..1052
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..2130
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1534..1539
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /note="hexamer: AATAAA"
     polyA_site      1563
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
     regulatory      1704..1709
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /note="hexamer: AATAAA"
     polyA_site      1724
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /note="major polyA site"
     regulatory      2111..2116
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
                     /note="hexamer: AATAAA"
     polyA_site      2130
                     /gene="IMMP2L"
                     /gene_synonym="IMMP2L-IT1; IMP2; IMP2-LIKE"
ORIGIN      
        1 gacttccccc gggctgagct gcgcagcggg tgcggagggc gggcgcccgg cgtccggcgg
       61 cgggtggggg gctgtgaggc tggcaggggt cggcgggcgc gtagccgccg acccttggtg
      121 gtctcttggg ctggggaccc ttccctggga gtcggccccg gccccggcgg ggcgggcgtt
      181 gccgggaggc ggaggggtgc gcggccgcga gtcctgcgtg atcgcgagca tgtgtgcgtg
      241 cgcgtgttta tctgaggcgc gtgcggcggc caccccagcc tagtcctctt cttggtgcca
      301 ctggctaact aggttgagaa accggcgcca caggcggcac acctggcccg gagctggccc
      361 gctcctcccc gccgagccgg cgccccaaca acgcgccctc tcccagtcct cacaaagggg
      421 cctagtccgg cccccggctc tggccgtgag ggagcgctgt gggggcgcgc tgccttctgc
      481 ctggaagtgt tgggcaggtg gtgggagagc gtcaggcttg aacaacatga ttttaaagca
      541 cgtgtctgtc tgtcgttttt tacttttagg gttttggcca aattgggcga gggcacaaaa
      601 taaccactta ccccttctca ccgaggaaga gcgggagaaa gggtatggca cagtcacaag
      661 ggtgggtgaa aagatacatc aaggcctttt gtaaaggctt ctttgtggcg gtgcctgtgg
      721 cagtgacttt cttggatcgg gtcgcctgtg tggcaagagt agaaggagca tcgatgcagc
      781 cttctttgaa tcctgggggg agccagtcat ctgatgtggt gcttttgaac cactggaaag
      841 tgaggaattt tgaagtacac cgtggtgaca ttgtatcatt ggtgtctcct aaaaacccag
      901 aacagaagat cattaagaga gtgattgctc ttgaaggaga tattgtcaga accataggac
      961 acaaaaaccg gtatgtcaaa gtcccccgtg gtcacatctg ggttgaaggt gatcatcatg
     1021 gacacagttt tgacagtaat tcttttgggc cggtttccct aggacttctg catgcccatg
     1081 ccacacatat cctgtggccc ccagagcgct ggcagaaatt ggaatctgtt cttcctccag
     1141 agcgcttacc agtacagaga gaagaggaat gactgcatga atctacctga gttgctggca
     1201 ttgggaggcc agttactgga aaggaatgga aaaaagaagc ctccaaaagg gaaaaacttc
     1261 tgacaatatg atgctgtgcg agaaatattt acagcacatt aaaacgatct gtattattaa
     1321 ataaataatt ttcaaatgtt aaacagtatt aaatggcacc tgattttgtg ttaaatttta
     1381 gttccctgtt gtttaatgcc cccaaaatat gcagaccttt gggaatataa aaatattgca
     1441 cccacatgtc ttaatggggc tgaatttcag attatttgtt acatatactt attatattga
     1501 ttgttgggtt ttgattttgg tgcttgctgc tgaaataaat tgaaaattaa tattcaataa
     1561 aaatgatgta tttgtcactt gctgttaagg tagaacaaga aggaacacat attatacaca
     1621 taatgatggg aattacattg tgatttgtac tatctacaaa ggagtaactg ccagttagga
     1681 agaacagtaa acagtgatgt taaaataaaa caatgatttg ctaaggtcct gttttgagta
     1741 tttaattctc attgagtaca tccattaatg aggaatttct tatctcttct gaaaataagg
     1801 aatcaaagta atggagaacc cattctgtcg acacttgcat acagtcaagc ctttcttatt
     1861 ggccctttgt aatccaacat ttctgagtga tctcatgcct attcacaatg atgggtaaac
     1921 ccctttatcc gcatttagtc atactatgtg tttaaaagtt ctgagtgaaa tagaagaaaa
     1981 aacagtccag atcagccacg tttgattttc ttcccctaat tatttctcag tattcacgtc
     2041 tgtaatactg aaatcaccaa ttgcaaagtt acagtagaat catagagtct gtaatttgta
     2101 tggataatgg aataaattcc ctgcatctaa
//
