LOCUS       NM_017775               3050 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens tetratricopeptide repeat domain 19 (TTC19), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_017775
VERSION     NM_017775.4
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 3050)
  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 3050)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3050)
  AUTHORS   Dong,Z., Ma,Y., Zhou,H., Shi,L., Ye,G., Yang,L., Liu,P. and Zhou,L.
  TITLE     Integrated genomics analysis highlights important SNPs and genes
            implicated in moderate-to-severe asthma based on GWAS and eQTL
            datasets
  JOURNAL   BMC Pulm Med 20 (1), 270 (2020)
   PUBMED   33066754
  REMARK    GeneRIF: Integrated genomics analysis highlights important SNPs and
            genes implicated in moderate-to-severe asthma based on GWAS and
            eQTL datasets.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3050)
  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 3050)
  AUTHORS   Nogueira,C., Barros,J., Sa,M.J., Azevedo,L., Taipa,R., Torraco,A.,
            Meschini,M.C., Verrigni,D., Nesti,C., Rizza,T., Teixeira,J.,
            Carrozzo,R., Pires,M.M., Vilarinho,L. and Santorelli,F.M.
  TITLE     Novel TTC19 mutation in a family with severe psychiatric
            manifestations and complex III deficiency
  JOURNAL   Neurogenetics 14 (2), 153-160 (2013)
   PUBMED   23532514
  REMARK    GeneRIF: The mutation resulted in almost complete absence of TTC19
            protein, defective assembly of CIII in muscle, and enhanced
            production of reactive oxygen species in cultured skin fibroblasts.
REFERENCE   6  (bases 1 to 3050)
  AUTHORS   Blandin,G., Marchand,S., Charton,K., Daniele,N., Gicquel,E.,
            Boucheteil,J.B., Bentaib,A., Barrault,L., Stockholm,D., Bartoli,M.
            and Richard,I.
  TITLE     A human skeletal muscle interactome centered on proteins involved
            in muscular dystrophies: LGMD interactome
  JOURNAL   Skelet Muscle 3 (1), 3 (2013)
   PUBMED   23414517
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3050)
  AUTHORS   Ghezzi,D., Arzuffi,P., Zordan,M., Da Re,C., Lamperti,C., Benna,C.,
            D'Adamo,P., Diodato,D., Costa,R., Mariotti,C., Uziel,G.,
            Smiderle,C. and Zeviani,M.
  TITLE     Mutations in TTC19 cause mitochondrial complex III deficiency and
            neurological impairment in humans and flies
  JOURNAL   Nat Genet 43 (3), 259-263 (2011)
   PUBMED   21278747
  REMARK    GeneRIF: TTC19 is a putative cIII assembly factor whose disruption
            is associated with severe neurological abnormalities in humans and
            flies.
REFERENCE   8  (bases 1 to 3050)
  AUTHORS   Sagona,A.P., Nezis,I.P., Pedersen,N.M., Liestol,K., Poulton,J.,
            Rusten,T.E., Skotheim,R.I., Raiborg,C. and Stenmark,H.
  TITLE     PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment
            of FYVE-CENT to the midbody
  JOURNAL   Nat Cell Biol 12 (4), 362-371 (2010)
   PUBMED   20208530
REFERENCE   9  (bases 1 to 3050)
  AUTHORS   Tsang,H.T., Connell,J.W., Brown,S.E., Thompson,A., Reid,E. and
            Sanderson,C.M.
  TITLE     A systematic analysis of human CHMP protein interactions:
            additional MIT domain-containing proteins bind to multiple
            components of the human ESCRT III complex
  JOURNAL   Genomics 88 (3), 333-346 (2006)
   PUBMED   16730941
REFERENCE   10 (bases 1 to 3050)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC105128.1, AK025958.1,
            CA417932.1, AC002553.2 and AW083291.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_017775.3.
            
            Summary: This gene encodes a protein with a tetratricopeptide
            repeat (TPR) domain containing several TPRs of about 34 aa each.
            These repeats are found in a variety of organisms including
            bacteria, fungi and plants, and are involved in a variety of
            functions including protein-protein interactions. This protein is
            embedded in the inner mitochondrial membrane and is involved in the
            formation of the mitochondrial respiratory chain III. It has also
            been suggested that this protein plays a role in cytokinesis.
            Mutations in this gene cause mitochondrial complex III deficiency.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Sep 2012].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer 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.
            
            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 :: SRR1803614.225705.1,
                                           SRR1163655.711957.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 21278747; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000261647.10/
                                                  ENSP00000261647.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1508              BC105128.1         445-1952
            1509-2430           AK025958.1         839-1760
            2431-2482           CA417932.1         1-52                c
            2483-2770           AC002553.2         140285-140572       c
            2771-3050           AW083291.1         12-291              c
FEATURES             Location/Qualifiers
     source          1..3050
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p12"
     gene            1..3050
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /note="tetratricopeptide repeat domain 19"
                     /db_xref="GeneID:54902"
                     /db_xref="HGNC:HGNC:26006"
                     /db_xref="MIM:613814"
     exon            1..209
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1168
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; tetratricopeptide repeat protein 19,
                     mitochondrial; TPR repeat protein 19"
                     /codon_start=1
                     /product="tetratricopeptide repeat protein 19,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_060245.3"
                     /db_xref="CCDS:CCDS11174.2"
                     /db_xref="GeneID:54902"
                     /db_xref="HGNC:HGNC:26006"
                     /db_xref="MIM:613814"
                     /translation="MFRLLSWSLGRGFLRAAGRRCRGCSARLLPGLAGGPGPEVQVPP
                     SRVAPHGRGPGLLPLLAALAWFSRPAAAEEEEQQGADGAAAEDGADEAEAEIIQLLKR
                     AKLSIMKDEPEEAELILHDALRLAYQTDNKKAITYTYDLMANLAFIRGQLENAEQLFK
                     ATMSYLLGGGMKQEDNAIIEISLKLASIYAAQNRQEFAVAGYEFCISTLEEKIEREKE
                     LAEDIMSVEEKANTHLLLGMCLDACARYLLFSKQPSQAQRMYEKALQISEEIQGERHP
                     QTIVLMSDLATTLDAQGRFDEAYIYMQRASDLARQINHPELHMVLSNLAAVLMHRERY
                     TQAKEIYQEALKQAKLKKDEISVQHIREELAELSKKSRPLTNSVKL"
     exon            210..337
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /inference="alignment:Splign:2.1.0"
     exon            338..448
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /inference="alignment:Splign:2.1.0"
     exon            449..487
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /inference="alignment:Splign:2.1.0"
     exon            488..544
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /inference="alignment:Splign:2.1.0"
     exon            545..606
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /inference="alignment:Splign:2.1.0"
     exon            607..701
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /inference="alignment:Splign:2.1.0"
     exon            702..856
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /inference="alignment:Splign:2.1.0"
     exon            857..1019
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..3050
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2409..2414
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /note="hexamer: AATAAA"
     polyA_site      2430
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /note="major polyA site"
     polyA_site      2561
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
     regulatory      3031..3036
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
                     /note="hexamer: ATTAAA"
     polyA_site      3050
                     /gene="TTC19"
                     /gene_synonym="2010204O13Rik; MC3DN2"
ORIGIN      
        1 agtgcgcaga ggacgcggcg ggagcatgtt ccggctcctg agctggagcc tgggccgagg
       61 cttcctgcgg gccgcggggc ggcggtgccg gggctgctcc gcgcgcctgc tcccggggct
      121 ggcaggaggt ccggggcccg aggtgcaggt gccgccatcc cgagtcgcgc cgcacggccg
      181 gggcccaggc ctgctgccgc tgctggcagc gctcgcctgg ttctcgaggc ccgctgcggc
      241 agaggaggag gagcagcagg gagccgacgg ggccgctgcc gaggacgggg cggacgaggc
      301 cgaggcagag atcatccagc tgctgaagcg agccaagttg agcattatga aagatgagcc
      361 agaagaggct gagttaattt tgcatgacgc tcttcgtctc gcctatcaga ctgataacaa
      421 gaaggccatc acttacactt atgatttgat ggccaactta gcatttatac ggggtcagct
      481 tgaaaatgct gaacaacttt ttaaagcaac aatgagttac ctccttggag ggggcatgaa
      541 gcaggaggac aatgcaataa ttgaaatttc cctaaagctg gccagtatct atgctgcgca
      601 gaacagacag gaatttgctg ttgctggcta tgaattctgc atttcaactc tagaggaaaa
      661 aattgaaaga gaaaaggaat tagcagaaga cattatgtca gtggaagaga aagccaatac
      721 ccacctcctc ttgggcatgt gcttagacgc ctgtgctcgc taccttctgt tctccaagca
      781 gccgtcacag gcacaaagga tgtatgaaaa agctctgcag atttctgaag aaatacaagg
      841 agaaagacac ccacagacca ttgtgctgat gagtgacctg gctactaccc tggatgcaca
      901 gggccgcttt gatgaggcct atatttatat gcaaagggca tcagatctgg caagacagat
      961 aaatcatcct gagctacaca tggtactcag taatctagct gcagttttga tgcacagaga
     1021 acgatataca caagcaaaag agatctacca ggaagcactg aagcaagcaa agctgaaaaa
     1081 agatgaaatt tctgtacaac acatcaggga agagttggct gagctgtcaa agaaaagtag
     1141 acctttgaca aattctgtca agctctaaat ccatttttgt gtagggagaa taatgtctag
     1201 taatgtggaa gaatagctat cattcctgtc tctgtggcac ccgatcaatg gcttaaatct
     1261 gtcgtttttg atattcaggt ttcctcaatt tagccttagt gaaggagggg ttgtacacac
     1321 tgccattttt gtattttaaa ggaaaaatga ctttcattcc caactgatta tgacctttca
     1381 ggatgtcgtc aagtgatgct ttcagttgta acacgtgact tggtgctgtc cctgctggtc
     1441 taagtagaac tgtagattca tatgggctgg tgttcctgtg cgctgtgggt gtggtgattc
     1501 agcctggcat ttctaccata agtttttggt ctgctgattt gctgccctgt cttctcttac
     1561 tttactttat caatacctgg caaactgacc agaattacct tcctcatggc aaagggggat
     1621 tatggtgaat tgttgttctt atagtctgtt tcatgaagca caagtggaat ttaatacata
     1681 aaagagaaaa atatcttagt ttgctaccag catccagcat gaagttgtaa agtggggatt
     1741 aggcacgtga cagtatagca cccatttgaa tttaaataaa agtgaaccat atttatctgg
     1801 ttatataaaa ctaaaaatgg gggtgtttat ataaaactaa aaactaagaa tgatgtaacc
     1861 ttttgtctgt gttatctgaa cactctactt cctttgcagc cttagtcaca caactgagtc
     1921 atctcaagta ctctttaagg acacacagcc caggctgttc tgagtcagaa taggccccta
     1981 caggtatatt ttaaaactct tcgtaattct aatgtgtact gctggtatag ctgaactact
     2041 gacctggatc ttagtcctag cctttttgct tttgcaattt cagtatcttc atctctaaac
     2101 tagggaaaca ctgggattct ttcttagctg tgggggaagg tatttggtta gatgactttg
     2161 aatgaataga ctgctgtgct gaaagagctt tatcacactg tctcaaagta tgtaaagata
     2221 cataggtgga tgctcttact gcagcagtca tgaatacatt tttagccatt tacctaagga
     2281 aaaagacagt ttttctaggt accatgaagg aagattgacc ctgttggtat gcctgtgggg
     2341 gtgggatgtg agtgggactg ataaactgat acttttggtt cgtatgtaca tactggaaga
     2401 atcttcataa taaatgagac tacacaacaa tattgtatgt atcccagtaa tctttgcatt
     2461 tctcaaaaaa aaaaaaaaaa aaaaaaaaaa aactttctga agaaaataaa aacaccagaa
     2521 accttgaggt ccaaatcctc agggattaga ctaaaactag agttttgtat gttgcagatg
     2581 taaatttctt cctattttct gtctaatctc atattattta ccatgcagct aatgccgttt
     2641 accaagtcta gctcagagag ataagataca atataaatca gactgtttca gtagaaacca
     2701 gtattaacgt atggtgattt cttaaaaaaa ttaatgtcaa ccactcacct tttgcattga
     2761 gaatgttttt accttttcac aactgcaggg gttactgaaa ggtttttcat tccaagtttt
     2821 atttatttat taattttaaa tcatccacag tgactcagct catggtctcg ttgttggaaa
     2881 cactaggagt tttcaggaca gtctcttcat gtgggtgttt tcattacagt tcatttacac
     2941 tgttgtaaaa taaggtactg aagcaaaagg aggactgatc tcctttactg attggtctaa
     3001 attcaaaagt gaattggtta aaatcgtgtc attaaaattt tttaactgtc
//
