LOCUS       NM_001144869            2333 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens lipoyl(octanoyl) transferase 2 (LIPT2), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001144869 XR_039115 XR_039136 XR_039283
VERSION     NM_001144869.3
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 2333)
  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 2333)
  AUTHORS   Habarou,F., Hamel,Y., Haack,T.B., Feichtinger,R.G., Lebigot,E.,
            Marquardt,I., Busiah,K., Laroche,C., Madrange,M., Grisel,C.,
            Pontoizeau,C., Eisermann,M., Boutron,A., Chretien,D.,
            Chadefaux-Vekemans,B., Barouki,R., Bole-Feysot,C., Nitschke,P.,
            Goudin,N., Boddaert,N., Nemazanyy,I., Delahodde,A., Kolker,S.,
            Rodenburg,R.J., Korenke,G.C., Meitinger,T., Strom,T.M.,
            Prokisch,H., Rotig,A., Ottolenghi,C., Mayr,J.A. and de Lonlay,P.
  TITLE     Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation
            Defect Associated with Severe Neonatal Encephalopathy
  JOURNAL   Am J Hum Genet 101 (2), 283-290 (2017)
   PUBMED   28757203
  REMARK    GeneRIF: The authors report on the identification of biallelic
            LIPT2 mutations in three affected individuals from two families
            with severe neonatal encephalopathy where a normalization of
            lipoylation was observed after expression of wild-type LIPT2,
            arguing for LIPT2 requirement in intramitochondrial lipoate
            synthesis.
REFERENCE   3  (bases 1 to 2333)
  AUTHORS   Bernardinelli,E., Costa,R., Scantamburlo,G., To,J., Morabito,R.,
            Nofziger,C., Doerrier,C., Krumschnabel,G., Paulmichl,M. and
            Dossena,S.
  TITLE     Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic
            cell death
  JOURNAL   PLoS One 12 (6), e0179591 (2017)
   PUBMED   28628643
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2333)
  AUTHORS   Mayr,J.A., Feichtinger,R.G., Tort,F., Ribes,A. and Sperl,W.
  TITLE     Lipoic acid biosynthesis defects
  JOURNAL   J Inherit Metab Dis 37 (4), 553-563 (2014)
   PUBMED   24777537
  REMARK    Review article
REFERENCE   5  (bases 1 to 2333)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001372.4, HY025586.1 and
            CX752266.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001144869.2.
            
            Summary: This gene encodes a mitochondrial protein that catalyzes
            the transfer of octanoic acid to lipoate-dependent enzymes such as
            octanoyl-ACP. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.140148.1,
                                           SRR1803611.127156.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000310109.5/
                                                  ENSP00000309463.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AP001372.4         62314-62324         c
            12-42               HY025586.1         2-32
            43-43               AP001372.4         62282-62282         c
            44-588              CX752266.1         12-556
            589-2333            AP001372.4         59119-60863         c
FEATURES             Location/Qualifiers
     source          1..2333
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..2333
                     /gene="LIPT2"
                     /note="lipoyl(octanoyl) transferase 2"
                     /db_xref="GeneID:387787"
                     /db_xref="HGNC:HGNC:37216"
                     /db_xref="MIM:617659"
     exon            1..487
                     /gene="LIPT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..717
                     /gene="LIPT2"
                     /EC_number="2.3.1.181"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; putative octanoyltransferase, mitochondrial;
                     putative lipoyltransferase 2, mitochondrial;
                     lipoate-protein ligase B;
                     octanoyl-[acyl-carrier-protein]-protein
                     N-octanoyltransferase; lipoyl(octanoyl) transferase 2
                     (putative); octanoyl-[acyl-carrier-protein]:protein
                     N-octanoyltransferase LIPT2, mitochondrial"
                     /codon_start=1
                     /product="octanoyl-[acyl-carrier-protein]:protein
                     N-octanoyltransferase LIPT2, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_001138341.1"
                     /db_xref="CCDS:CCDS44679.1"
                     /db_xref="GeneID:387787"
                     /db_xref="HGNC:HGNC:37216"
                     /db_xref="MIM:617659"
                     /translation="MRQPAVRLVRLGRVPYAELLGLQDRWLRRLQAEPGIEAPSGTEA
                     GALLLCEPAGPVYTAGLRGGLTPEETARLRALGAEVRVTGRGGLATFHGPGQLLCHPV
                     LDLRRLGLRLRMHVASLEACAVRLCELQGLQDARARPPPYTGVWLDDRKICAIGVRCG
                     RHITSHGLALNCSTDLTWFEHIVPCGLVGTGVTSLSKELQRHVTVEEVMPPFLVAFKE
                     IYKCTLISEDSPN"
     exon            488..2333
                     /gene="LIPT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      950..955
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIPT2"
                     /note="hexamer: TATAAA"
     polyA_site      993
                     /gene="LIPT2"
                     /note="major polyA site"
     polyA_site      1087
                     /gene="LIPT2"
                     /note="major polyA site"
     regulatory      1434..1439
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIPT2"
                     /note="hexamer: AACAAA"
     polyA_site      1468
                     /gene="LIPT2"
     regulatory      2310..2315
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIPT2"
                     /note="hexamer: TATAAA"
     polyA_site      2333
                     /gene="LIPT2"
ORIGIN      
        1 gcggacgcaa cggtgggcac gatgcggcaa cccgccgttc ggttggtgcg cctgggtcgg
       61 gtgccgtacg ccgagctact ggggctgcag gaccgctggc tgcggcggct gcaggccgag
      121 ccaggcattg aggccccgtc ggggactgag gcgggcgcgc tcctgctctg cgagcccgcg
      181 gggcccgtgt atacggccgg gctgcgcggc ggcctgacgc ccgaggaaac tgcgcggcta
      241 cgggccttgg gcgccgaggt gcgcgtcaca ggccgcggtg gcctggccac cttccacggc
      301 ccgggccagc tgctttgcca cccggtactc gacctgcggc gtctcggcct gcgcttgcgc
      361 atgcacgtag cgtcgctgga ggcgtgcgcc gtgcgcctgt gcgagctcca gggcctgcag
      421 gacgcccgcg cgcggccccc gccctacact ggcgtctggc tagacgatcg caagatctgc
      481 gcgatcggag tccgctgtgg aaggcacatc acatcccacg gcctggctct caactgctct
      541 accgacctca cgtggtttga gcacatcgtg ccctgtggac tggttgggac aggcgtcact
      601 tccttgagta aggagctcca gaggcacgtc accgtggaag aagtaatgcc acctttcctt
      661 gtggccttta aggagatcta caagtgcaca ctgatctcag aggacagccc caactgaaga
      721 gtactcataa cagccaggat gctcctgcct tgggaagcat gaagtctgac ttgagtcacc
      781 tactgaaacc cagattttag acctggcctg tcattcactg atcatgaaac taaggacata
      841 ccatgagctc tgagccacta ttttcatatg tatcctgttt tatttatatc ttccccacct
      901 acctcagaga tactagatgt gacaatactg tgaaaagcaa cacatgctat ataaaacatt
      961 agcactgcta ttgacagcag tgtctcagag aaattcagat gtcatagatt gttatttctc
     1021 gattgttgat gtcatagatt gtcatttctc aattgttgct tcctcaatac tgtgtctaac
     1081 tgagcaattc tgggctctag ttcctttgat tttgtgggaa tcaaatctct gaatggccca
     1141 ggtgaaggtg atgtgatgta gtgctttttc attctcaaga gacctgggtt ctttctgcaa
     1201 taaagggaaa agggaagaac cttctaagaa taaaatggga tcttaccttc ctgggtttga
     1261 ttccccaagt ttgataattt agcagttttt agttgggtta ccctgagcta ggccaaagac
     1321 tggaggaagg ataagaataa tttctcacac tgtacaaatg ccaaagatag aagtgagttt
     1381 ttcttatatg agacctctaa atttgtaagg ctgcgtatta tctgttgctg tgtaacaaat
     1441 catcaaaact tagtgactta acagtaaaca ttaattatct cgtttgtggg tcaggaattt
     1501 gggggaagct tagctgggtg tttctaggtt agggtctcac acgaacttgc agttaagatg
     1561 tcagctggaa ctgcacttat tcaaaggctt ggctgggctg gaggatcagc gctccatatg
     1621 gtgcattcac ttgcgtggtt ggttatggtt gctgacaaga ggcctcagtt ccttaccgtg
     1681 tggacctccc tatagggttg cttaattgtt ctcatgacag ggcaactggc ttcccctaga
     1741 gcaagtcatg ccaaagagag acaagctgga agccacaatg ttttttatga cccagcctca
     1801 gaagtcacac aggcatttct gtagtcttct aacagatgag ccctgttcag tgtggaaggg
     1861 actgcactag ggcaacagaa ggtgaggatt attaggggcc atcttgaaga atggccacca
     1921 cagcctatta agagtggaaa gagcctcgaa tgagaagtca ggggaccctg gttccagttc
     1981 tggctctgtg gaaaagtcat ttactctctg gtcttcagtt tctccttaaa ccagtgctgt
     2041 tcaatagaaa tacaatgcaa gccacattgt aatttgacat tttctaggat ccatgttaaa
     2101 aaggtaaaag aaatgggtga tgttattttt attttatttt atttttattt tttttaagaa
     2161 atgaggcttt gctatgttgc ccaagctggt ctcagactcc tgggctcaag ggatccttct
     2221 gcctcagcct cacaaagtgc tggaattaca ggtgtgagcc accatgcctg gtctatgatg
     2281 ttaattttaa tattttaatt aacccaatat ataaaaatat caatataaag caa
//
