LOCUS       NM_016498               1133 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial fission process 1 (MTFP1), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016498
VERSION     NM_016498.5
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 1133)
  AUTHORS   Tabara,L.C., Burr,S.P., Frison,M., Chowdhury,S.R., Paupe,V.,
            Nie,Y., Johnson,M., Villar-Azpillaga,J., Viegas,F., Segawa,M.,
            Anand,H., Petkevicius,K., Chinnery,P.F. and Prudent,J.
  TITLE     MTFP1 controls mitochondrial fusion to regulate inner membrane
            quality control and maintain mtDNA levels
  JOURNAL   Cell 187 (14), 3619-3637 (2024)
   PUBMED   38851188
  REMARK    GeneRIF: MTFP1 controls mitochondrial fusion to regulate inner
            membrane quality control and maintain mtDNA levels.
REFERENCE   2  (bases 1 to 1133)
  AUTHORS   Cui,H., Hu,D., Liu,Y. and Zhao,J.
  TITLE     Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising
            biomarkers of sarcopenia in various models
  JOURNAL   Gene 896, 148053 (2024)
   PUBMED   38042218
  REMARK    GeneRIF: Identifying Acss1, Mtfp1 and Oxct1 as key regulators and
            promising biomarkers of sarcopenia in various models.
REFERENCE   3  (bases 1 to 1133)
  AUTHORS   Panigrahi,D.P., Praharaj,P.P., Behera,B.P., Patra,S., Patil,S.,
            Patro,B.S. and Bhutia,S.K.
  TITLE     The inner mitochondrial membrane fission protein MTP18 serves as a
            mitophagy receptor to prevent apoptosis in oral cancer
  JOURNAL   J Cell Sci 136 (13) (2023)
   PUBMED   37313742
  REMARK    GeneRIF: The inner mitochondrial membrane fission protein MTP18
            serves as a mitophagy receptor to prevent apoptosis in oral cancer.
REFERENCE   4  (bases 1 to 1133)
  AUTHORS   Pan,S., Zhou,J., Yang,W., Zhu,W., Zhu,T., Yang,B. and Tang,X.
  TITLE     MiR-125b-5p Targets MTFP1 to Inhibit Cell Proliferation, Migration,
            and Invasion and Facilitate Cell Apoptosis in Endometrial Carcinoma
  JOURNAL   Mol Biotechnol 65 (6), 961-969 (2023)
   PUBMED   36380260
  REMARK    GeneRIF: MiR-125b-5p Targets MTFP1 to Inhibit Cell Proliferation,
            Migration, and Invasion and Facilitate Cell Apoptosis in
            Endometrial Carcinoma.
REFERENCE   5  (bases 1 to 1133)
  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   6  (bases 1 to 1133)
  AUTHORS   Tondera,D., Czauderna,F., Paulick,K., Schwarzer,R., Kaufmann,J. and
            Santel,A.
  TITLE     The mitochondrial protein MTP18 contributes to mitochondrial
            fission in mammalian cells
  JOURNAL   J Cell Sci 118 (Pt 14), 3049-3059 (2005)
   PUBMED   15985469
REFERENCE   7  (bases 1 to 1133)
  AUTHORS   Cheng,J., Kapranov,P., Drenkow,J., Dike,S., Brubaker,S., Patel,S.,
            Long,J., Stern,D., Tammana,H., Helt,G., Sementchenko,V.,
            Piccolboni,A., Bekiranov,S., Bailey,D.K., Ganesh,M., Ghosh,S.,
            Bell,I., Gerhard,D.S. and Gingeras,T.R.
  TITLE     Transcriptional maps of 10 human chromosomes at 5-nucleotide
            resolution
  JOURNAL   Science 308 (5725), 1149-1154 (2005)
   PUBMED   15790807
REFERENCE   8  (bases 1 to 1133)
  AUTHORS   Tondera,D., Santel,A., Schwarzer,R., Dames,S., Giese,K., Klippel,A.
            and Kaufmann,J.
  TITLE     Knockdown of MTP18, a novel phosphatidylinositol 3-kinase-dependent
            protein, affects mitochondrial morphology and induces apoptosis
  JOURNAL   J Biol Chem 279 (30), 31544-31555 (2004)
   PUBMED   15155745
  REMARK    GeneRIF: MTP18 mRNA as well as protein expression is dependent on
            PI 3-kinase activity.
REFERENCE   9  (bases 1 to 1133)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   10 (bases 1 to 1133)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB107806.1, BC046132.1 and BC001608.1.
            
            On Nov 23, 2018 this sequence version replaced NM_016498.4.
            
            Summary: MTP18 is a mitochondrial protein and downstream target of
            the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834)
            signaling pathway that plays a role in cell viability and
            mitochondrial dynamics (Tondera et al., 2004 [PubMed
            15155745]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            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 :: BC009300.2, SRR5189658.104981.1
                                           [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. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000266263.10/
                                                  ENSP00000266263.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                CB107806.1         146-210
            66-797              BC046132.1         1-732
            798-1133            BC001608.1         769-1104
FEATURES             Location/Qualifiers
     source          1..1133
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     gene            1..1133
                     /gene="MTFP1"
                     /gene_synonym="HSPC242; MTP18"
                     /note="mitochondrial fission process 1"
                     /db_xref="GeneID:51537"
                     /db_xref="HGNC:HGNC:26945"
                     /db_xref="MIM:610235"
     exon            1..179
                     /gene="MTFP1"
                     /gene_synonym="HSPC242; MTP18"
                     /inference="alignment:Splign:2.1.0"
     CDS             113..613
                     /gene="MTFP1"
                     /gene_synonym="HSPC242; MTP18"
                     /note="isoform a is encoded by transcript variant 1;
                     mitochondrial protein 18 kDa; mitochondrial 18 kDa
                     protein; mitochondrial fission process protein 1;
                     mitochondrial fission protein MTP18"
                     /codon_start=1
                     /product="mitochondrial fission process protein 1 isoform
                     a"
                     /protein_id="NP_057582.2"
                     /db_xref="CCDS:CCDS33635.1"
                     /db_xref="GeneID:51537"
                     /db_xref="HGNC:HGNC:26945"
                     /db_xref="MIM:610235"
                     /translation="MSEPQPRGAERDLYRDTWVRYLGYANEVGEAFRSLVPAAVVWLS
                     YGVASSYVLADAIDKGKKAGEVPSPEAGRSARVTVAVVDTFVWQALASVAIPGFTINR
                     VCAASLYVLGTATRWPLAVRKWTTTALGLLTIPIIIHPIDRSVDFLLDSSLRKLYPTV
                     GKPSSS"
     exon            180..307
                     /gene="MTFP1"
                     /gene_synonym="HSPC242; MTP18"
                     /inference="alignment:Splign:2.1.0"
     exon            308..540
                     /gene="MTFP1"
                     /gene_synonym="HSPC242; MTP18"
                     /inference="alignment:Splign:2.1.0"
     exon            541..1133
                     /gene="MTFP1"
                     /gene_synonym="HSPC242; MTP18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1115..1120
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTFP1"
                     /gene_synonym="HSPC242; MTP18"
                     /note="hexamer: AATAAA"
     polyA_site      1133
                     /gene="MTFP1"
                     /gene_synonym="HSPC242; MTP18"
                     /note="major polyA site"
ORIGIN      
        1 cttcggcgcg ggactttcgg cgggtcccgg ccgggcagac ccaagtgccg gcggcggaga
       61 ctgcagtgga gccagtaccg gctgtagtgg ccggggccgt ggcgggagag tcatgtcaga
      121 gccgcagccg cggggcgcag agcgcgatct ctaccgggac acgtgggtgc gatacctggg
      181 ctatgccaat gaggtgggcg aggctttccg ctctcttgtg ccagcggcgg tggtgtggct
      241 gagctatggc gtggccagct cctacgtgct ggcggatgcc attgacaaag gcaagaaggc
      301 tggagaggtg cccagccctg aagcaggccg cagcgccagg gtgactgtgg ctgtggtgga
      361 cacctttgta tggcaggctc tagcctctgt ggccattccg ggcttcacca tcaaccgcgt
      421 gtgtgctgcc tctctctatg tcctgggcac tgccacccgc tggcccctgg ctgtccgcaa
      481 gtggaccacc accgcgcttg ggctgttgac catccccatc attatccacc ccattgacag
      541 gtcggtggat ttcctcctgg actccagcct gcgcaagctc tacccaacag tggggaagcc
      601 cagctcctcc tgatcatact ctggtacctg gcctgtgcat cggcctcctg cttcatgtca
      661 acctcctact cctgccaggg aatgtggaca cctggctccc tggtgtccaa agaccctggc
      721 acctgggtgg gtttgagctg gacagaagct tagagacaaa ggcttcaaga agcagtggct
      781 gcagggagtc acagaagggc aggacctgaa cgctgtctgc ttccctggaa tccaagatgc
      841 tgagtggaag tggaccctgg gtgggcccgg ccctgtcttt ttcaggaaaa ttacatcctc
      901 ccatggagga tgagagactg aggctcaggg agggcaagga ataggcccaa gatcacttgg
      961 caagctgggc acccaggacc cccaggtgct tgacagagtc accccatggt ggtatggctg
     1021 aacaaggagc ggcagacaac tcagggagaa actcaggagt gcagtaccag ggacacctca
     1081 ggacagattc tctggccagg cccttccctg acccaataaa tcctgaagag gtt
//
