LOCUS       NM_001099625            1953 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial fission regulator 1 like (MTFR1L),
            transcript variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001099625
VERSION     NM_001099625.2
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 1953)
  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 1953)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1953)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1953)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 1953)
  AUTHORS   Yamada,S., Ohira,M., Horie,H., Ando,K., Takayasu,H., Suzuki,Y.,
            Sugano,S., Hirata,T., Goto,T., Matsunaga,T., Hiyama,E., Hayashi,Y.,
            Ando,H., Suita,S., Kaneko,M., Sasaki,F., Hashizume,K., Ohnuma,N.
            and Nakagawara,A.
  TITLE     Expression profiling and differential screening between
            hepatoblastomas and the corresponding normal livers: identification
            of high expression of the PLK1 oncogene as a poor-prognostic
            indicator of hepatoblastomas
  JOURNAL   Oncogene 23 (35), 5901-5911 (2004)
   PUBMED   15221005
REFERENCE   6  (bases 1 to 1953)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB170641.1, AL020996.6, AB075880.1 and BM968565.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001099625.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.130249.1,
                                           SRR3476690.249071.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000374303.7/
                                                  ENSP00000363421.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-69                DB170641.1         49-117
            70-70               AL020996.6         19469-19469         c
            71-1427             AB075880.1         47-1403
            1428-1486           AL020996.6         7021-7079           c
            1487-1953           BM968565.1         22-488              c
FEATURES             Location/Qualifiers
     source          1..1953
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..1953
                     /gene="MTFR1L"
                     /gene_synonym="FAM54B; HYST1888; MST116; MSTP116"
                     /note="mitochondrial fission regulator 1 like"
                     /db_xref="GeneID:56181"
                     /db_xref="HGNC:HGNC:28836"
                     /db_xref="MIM:620765"
     exon            1..76
                     /gene="MTFR1L"
                     /gene_synonym="FAM54B; HYST1888; MST116; MSTP116"
                     /inference="alignment:Splign:2.1.0"
     exon            77..186
                     /gene="MTFR1L"
                     /gene_synonym="FAM54B; HYST1888; MST116; MSTP116"
                     /inference="alignment:Splign:2.1.0"
     CDS             163..1041
                     /gene="MTFR1L"
                     /gene_synonym="FAM54B; HYST1888; MST116; MSTP116"
                     /note="isoform a is encoded by transcript variant 2;
                     protein FAM54B; family with sequence similarity 54 member
                     B"
                     /codon_start=1
                     /product="mitochondrial fission regulator 1-like isoform
                     a"
                     /protein_id="NP_001093095.1"
                     /db_xref="CCDS:CCDS41284.1"
                     /db_xref="GeneID:56181"
                     /db_xref="HGNC:HGNC:28836"
                     /db_xref="MIM:620765"
                     /translation="MSGMEATVTIPIWQNKPHGAARSVVRRIGTNLPLKPCARASFET
                     LPNISDLCLRDVPPVPTLADIAWIAADEEETYARVRSDTRPLRHTWKPSPLIVMQRNA
                     SVPNLRGSEERLLALKKPALPALSRTTELQDELSHLRSQIAKIVAADAASASLTPDFL
                     SPGSSNVSSPLPCFGSSFHSTTSFVISDITEETEVEVPELPSVPLLCSASPECCKPEH
                     KAACSSSEEDDCVSLSKASSFADMMGILKDFHRMKQSQDLNRSLLKEEDPAVLISEVL
                     RRKFALKEEDISRKGN"
     exon            187..291
                     /gene="MTFR1L"
                     /gene_synonym="FAM54B; HYST1888; MST116; MSTP116"
                     /inference="alignment:Splign:2.1.0"
     exon            292..401
                     /gene="MTFR1L"
                     /gene_synonym="FAM54B; HYST1888; MST116; MSTP116"
                     /inference="alignment:Splign:2.1.0"
     exon            402..613
                     /gene="MTFR1L"
                     /gene_synonym="FAM54B; HYST1888; MST116; MSTP116"
                     /inference="alignment:Splign:2.1.0"
     exon            614..935
                     /gene="MTFR1L"
                     /gene_synonym="FAM54B; HYST1888; MST116; MSTP116"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1953
                     /gene="MTFR1L"
                     /gene_synonym="FAM54B; HYST1888; MST116; MSTP116"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1928..1933
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTFR1L"
                     /gene_synonym="FAM54B; HYST1888; MST116; MSTP116"
                     /note="hexamer: ATTAAA"
     polyA_site      1953
                     /gene="MTFR1L"
                     /gene_synonym="FAM54B; HYST1888; MST116; MSTP116"
                     /note="major polyA site"
ORIGIN      
        1 agggcggttg aggctgggcg gcccaaggtg gaaggagggg ccgtgaggtg agagagtccg
       61 ggagcccgag cttgagatgg cctgatatga aggagtcacg cctcccgcct cccggagctg
      121 cccagtggct gccttgtcct tcaagtgcag gagctggttc aaatgtcagg aatggaagcc
      181 actgtgacca tcccaatctg gcaaaacaag ccacatgggg ctgctcgaag tgtagtaaga
      241 agaattggga ccaacctacc cttgaagccg tgtgcccggg cgtcctttga gaccctgccc
      301 aacatctctg acctgtgttt gagagatgtg cccccagtcc ctaccctggc tgacatcgcc
      361 tggattgctg cggatgaaga ggagacatat gcccgggtca ggagtgatac gcgccccctg
      421 aggcacacct ggaaacccag ccctctgatt gtcatgcagc gcaatgcctc tgttcccaac
      481 ctgcgtgggt ccgaggagag gcttctggcc ctgaagaagc cagctctgcc agccctaagc
      541 cgcactactg agctgcagga cgagctgagc cacttgcgca gccagattgc aaagatagtg
      601 gcagctgatg cagcttcggc ttcattaacg ccagatttct tatctccagg aagttcaaat
      661 gtctcttctc ccttaccttg ttttggatcc tcattccact ctacaacttc ctttgtcatt
      721 agtgacatca ccgaggagac agaggtggag gtccctgagc ttccatcagt ccccctgctt
      781 tgttctgcca gccctgaatg ttgcaaacca gaacacaaag ctgcctgcag ttcgtctgaa
      841 gaggatgact gcgtctcttt gtccaaggcc agcagctttg cagacatgat gggtatcctg
      901 aaggactttc accgaatgaa acagagtcaa gatctgaacc ggagtttatt gaaggaggaa
      961 gaccctgctg tgcttatctc tgaggtccta aggaggaagt ttgctctaaa ggaagaagat
     1021 atcagtagaa aaggaaattg acaaccctca gctctgcaaa ctcagtctca tgctcctgga
     1081 ataccttcaa tagctgcctt cctcaccgca gatgtttctg cctcttaagg atagatcttc
     1141 tgcaacagtc ttgctgacaa gctagagctt ggactgaaag agaagagctg gattatatat
     1201 ttcccagact tcaaacccta gcagaagcta aggcttgtga tttgacctga gacatttgtt
     1261 tcaggtaatc gtgtagaatg aagtatctta gtttaaaggg taagagagaa gttgtttctg
     1321 gtttttcctt gcccctgtgt gaaaataggt cctaaatgac tgacttcact gcattagacc
     1381 ctatagctgg tctcacaaga cactttgtgc ccagctgtca ctcactcagc agcttccttg
     1441 cagcagagca gggctgaggg gaaggggcta tgaatgtttg tatacatgtt cacagggcac
     1501 ggaaaatctt atgctgctcc gtcataaacc tacaccaatg cccagcaatc accctcctca
     1561 cttccttgtc tagatgtaga ggtcaggctg ctgaaccagc caacacatgg gctactgctg
     1621 ggaagcctgg gctgtttttt ttcttaaaca cattttatat tactgaacaa ccaaatctac
     1681 cctccacggc cctgaggcct tatcagttcc actgattaaa aactttctct tccacggact
     1741 ttaagcccgg taggaaagag agaggaggag ggggaaagag caaaccatct ttcttccagg
     1801 cccttgactg ctcctttggg ctgggccaag gtttgtatgt accacaccat gcatgactca
     1861 gatgccctca ggtccctttc tctatggtat gtatactgct tgtgtttggg ttgaagcact
     1921 acctgacatt aaaggaagga cttggagaga gaa
//
