LOCUS       NM_014637               2651 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial fission regulator 1 (MTFR1), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_014637
VERSION     NM_014637.4
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 2651)
  AUTHORS   Li,Q.Y., Guo,Q., Luo,W.M., Luo,X.Y., Ji,Y.M., Xu,L.Q., Guo,J.L.,
            Shi,R.S., Li,F., Lin,C.Y., Zhang,J. and Ke,D.
  TITLE     Overexpression of MTFR1 promotes cancer progression and
            drug-resistance on cisplatin and is related to the immune
            microenvironment in lung adenocarcinoma
  JOURNAL   Aging (Albany NY) 16 (1), 66-88 (2024)
   PUBMED   38170222
  REMARK    GeneRIF: Overexpression of MTFR1 promotes cancer progression and
            drug-resistance on cisplatin and is related to the immune
            microenvironment in lung adenocarcinoma.
REFERENCE   2  (bases 1 to 2651)
  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 2651)
  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   4  (bases 1 to 2651)
  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   5  (bases 1 to 2651)
  AUTHORS   Chen,P., Zhong,J., Ye,J., He,Y., Liang,Z., Cheng,Y., Zheng,J.,
            Chen,H. and Chen,C.
  TITLE     miR-324-5p protects against oxidative stress-induced endothelial
            progenitor cell injury by targeting Mtfr1
  JOURNAL   J Cell Physiol 234 (12), 22082-22092 (2019)
   PUBMED   31066044
  REMARK    GeneRIF: Our results suggested that miR-324-5p protects against
            oxidative stress-induced endothelial progenitor cells injury by
            regulating Mtfr1.
REFERENCE   6  (bases 1 to 2651)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2651)
  AUTHORS   Monticone,M., Tonachini,L., Tavella,S., Degan,P., Biticchi,R.,
            Palombi,F., Puglisi,R., Boitani,C., Cancedda,R. and Castagnola,P.
  TITLE     Impaired expression of genes coding for reactive oxygen species
            scavenging enzymes in testes of Mtfr1/Chppr-deficient mice
  JOURNAL   Reproduction 134 (3), 483-492 (2007)
   PUBMED   17709566
  REMARK    GeneRIF: reports the role of mouse Mtfr1 in protecting cells from
            reactive oxygen species using Mtfr1-deficient mice.
REFERENCE   8  (bases 1 to 2651)
  AUTHORS   Tonachini,L., Monticone,M., Puri,C., Tacchetti,C., Pinton,P.,
            Rizzuto,R., Cancedda,R., Tavella,S. and Castagnola,P.
  TITLE     Chondrocyte protein with a poly-proline region (CHPPR) is a novel
            mitochondrial protein and promotes mitochondrial fission
  JOURNAL   J Cell Physiol 201 (3), 470-482 (2004)
   PUBMED   15389597
  REMARK    GeneRIF: reports full-length mRNA sequence of human MTFR1.
REFERENCE   9  (bases 1 to 2651)
  AUTHORS   Tonachini,L., Monticone,M., Di Marco,E., Zerega,B., Cancedda,R. and
            Castagnola,P.
  TITLE     Chondrocyte protein with a poly-proline region is a novel protein
            expressed by chondrocytes in vitro and in vivo
  JOURNAL   Biochim Biophys Acta 1577 (3), 421-429 (2002)
   PUBMED   12359332
  REMARK    GeneRIF: presents partial sequence of a human homolog of chicken
            MTFR1
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC055822.10, BC036116.1 and
            AW157714.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_014637.3.
            
            Summary: This gene encodes a mitochondrial protein that is
            characterized by a poly-proline rich region. A chicken homolog of
            this protein promotes mitochondrial fission and the mouse homolog
            protects cells from oxidative stress. A related pseudogene of this
            gene is found on chromosome X. [provided by RefSeq, Mar 2009].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC043498.2, BC036116.1 [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                 :: ENST00000262146.9/
                                                  ENSP00000262146.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AC055822.10        157677-157681       c
            6-534               BC036116.1         1-529
            535-535             AC055822.10        97599-97599         c
            536-2640            BC036116.1         531-2635
            2641-2651           AW157714.1         9-19                c
FEATURES             Location/Qualifiers
     source          1..2651
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.1"
     gene            1..2651
                     /gene="MTFR1"
                     /gene_synonym="CHPPR; FAM54A2"
                     /note="mitochondrial fission regulator 1"
                     /db_xref="GeneID:9650"
                     /db_xref="HGNC:HGNC:29510"
                     /db_xref="MIM:619414"
     exon            1..51
                     /gene="MTFR1"
                     /gene_synonym="CHPPR; FAM54A2"
                     /inference="alignment:Splign:2.1.0"
     exon            52..197
                     /gene="MTFR1"
                     /gene_synonym="CHPPR; FAM54A2"
                     /inference="alignment:Splign:2.1.0"
     CDS             132..1133
                     /gene="MTFR1"
                     /gene_synonym="CHPPR; FAM54A2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; chondrocyte protein with a poly-proline region"
                     /codon_start=1
                     /product="mitochondrial fission regulator 1 isoform 1
                     precursor"
                     /protein_id="NP_055452.3"
                     /db_xref="CCDS:CCDS6182.1"
                     /db_xref="GeneID:9650"
                     /db_xref="HGNC:HGNC:29510"
                     /db_xref="MIM:619414"
                     /translation="MLGWIKRLIRMVFQQVGVSMQSVLWSRKPYGSSRSIVRKIGTNL
                     SLIQCPRVQFQINSHATEWSPSHPGEDAVASFADVGWVAKEEGECSARLRTEVRSRPP
                     LQDDLLFFEKAPSRQISLPDLSQEEPQLKTPALANEEALQKICALENELAALRAQIAK
                     IVTQQEQQNLTAGDLDSTTFGTIPPHPPPPPPPLPPPALGLHQSTSAVDLIKERREKR
                     ANAGKTLVKNNPKKPEMPNMLEILKEMNSVKLRSVKRSEQDVKPKPVDATDPAALIAE
                     ALKKKFAYRYRSDSQDEVEKGIPKSESEATSERVLFGPHMLKPTGKMKALIENVSDS"
     exon            198..296
                     /gene="MTFR1"
                     /gene_synonym="CHPPR; FAM54A2"
                     /inference="alignment:Splign:2.1.0"
     exon            297..412
                     /gene="MTFR1"
                     /gene_synonym="CHPPR; FAM54A2"
                     /inference="alignment:Splign:2.1.0"
     exon            413..648
                     /gene="MTFR1"
                     /gene_synonym="CHPPR; FAM54A2"
                     /inference="alignment:Splign:2.1.0"
     exon            649..895
                     /gene="MTFR1"
                     /gene_synonym="CHPPR; FAM54A2"
                     /inference="alignment:Splign:2.1.0"
     exon            896..1064
                     /gene="MTFR1"
                     /gene_synonym="CHPPR; FAM54A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..2651
                     /gene="MTFR1"
                     /gene_synonym="CHPPR; FAM54A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2618..2623
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTFR1"
                     /gene_synonym="CHPPR; FAM54A2"
                     /note="hexamer: AATAAA"
     polyA_site      2651
                     /gene="MTFR1"
                     /gene_synonym="CHPPR; FAM54A2"
                     /note="major polyA site"
ORIGIN      
        1 aagctagaag cctgaggagc cggagagggt gctggctgcc gcgcggccga gtgtgtttta
       61 tggaccatgt gctgctatgt atgcctgaag aagtacttga aatgcaaatt tggggagact
      121 ttgccatata aatgcttggc tggattaagc gcctaattag gatggttttt caacaagttg
      181 gagtaagcat gcaatcggta ctttggtcta ggaagccata tggttcgtct cgaagtatcg
      241 taaggaaaat tggtactaat ttgtctctga ttcagtgtcc aagagttcag tttcagatta
      301 acagccatgc aacagaatgg agtcccagcc acccaggaga ggatgcagtg gcgtcttttg
      361 ctgatgttgg atgggtagcc aaagaagaag gagagtgttc agcaagacta aggacagagg
      421 tcagatcaag gccacccctt caggatgacc ttcttttctt tgagaaggcc ccaagcagac
      481 agatttcctt accagacttg tctcaagaag agcctcagct gaagacccca gcgctggcaa
      541 atgaggaagc actgcagaag atttgcgctc tcgaaaatga acttgctgct ctcagagctc
      601 agattgccaa aattgtgacc cagcaggagc agcaaaatct cactgcaggt gacttagatt
      661 ctaccacatt tggtaccata ccaccacacc ctccacctcc cccaccgccc ctgcctcccc
      721 ctgcactggg gctccaccaa agtacatctg ctgttgatct gattaaagaa cgaagagaga
      781 aaagagccaa tgctggaaag actttggtta agaacaatcc aaagaaacct gaaatgccaa
      841 atatgctaga gatccttaaa gagatgaaca gtgtaaaact tcggtcagtg aagaggtcag
      901 agcaagatgt gaagcccaag ccagtggatg ctactgaccc tgctgccctc atagcagagg
      961 ctctgaaaaa gaaatttgct tatcggtatc gaagtgatag ccaagatgaa gttgaaaaag
     1021 gaattccaaa gtctgaatca gaggccacct cagagagagt gttgtttggg ccacacatgt
     1081 tgaagccaac aggaaaaatg aaggctttaa ttgaaaatgt atcagactcc taatagacaa
     1141 tgagctgcga aaagactcct ggttcccctg ttgatttgtg agggccaagt ttgctagtag
     1201 aaatcgacac tgtttagtaa atacctcttt agtattcagt ggtcttcttt tcaggctaat
     1261 tagtggatta agcaataatg aaagcactaa gtttggtttt gcttttgtga gatggtcagc
     1321 tttggtgctc tccacaacat gtgtgttctg acatgtttct aatatgtggc cagggcgttc
     1381 agatttccag ttttgaaaac aattgtatag atttcacaac acaaaaagga catttgtgga
     1441 tgttactgca cattttaaat tcttaacact aatttatctg tataagtgtt ttatatgcat
     1501 atttttggac ataaacagtt tatgtaaaat tagtaatgaa tgatggcaac gagggcactg
     1561 ttatcttcgt ttgttttcaa tgatcattta gcattcaatg atggaacagc tggtataaca
     1621 taagttgttg gcatgaaata tttgagattg gaaacttctt gccttgaaca gaacttatat
     1681 cttagattct ctctcacatt ttcttggagc tggggtttga ataggaacca gatgatgttc
     1741 actgctgaaa ttccataatg cttcccattg aagggaagtt gagaaccagg aaagctgctt
     1801 tcacgtcatt gccatccagt actgacaggg aagaaagatg tagttttcca gtagtgatga
     1861 atcaaattat tgaattaaat ttcttcttaa gaagtaaaaa ctcagaatgt accatcttgt
     1921 ttcctttcag tttattaaat ggcatcataa agatgacttt gctaagttaa tagagttaaa
     1981 aattttttta atataagcca aaatattaac tttaatgaaa cattgacttg gcaaatgaat
     2041 ttcctataaa ttatcattgg tcagaatgct gttttgttta ataatattac gcaacataaa
     2101 ccataggtgt tattagaagt ggagaactgc ctttttcatc tggggctttt aaggacttgc
     2161 tataaatgat tattttttaa atgctttata aatcttcatg gtttttctat ttctgataca
     2221 ctcagctata gttaatacca gagtatccta ccaggagtaa tatttggaat atttaaatct
     2281 agtaaaagaa gaaagttgta cttcctggct gggagtatta ggagatggga gtagagattc
     2341 acttttaagt tcttgaaaat atatgcattc tcctaaatat taacaaaaat gatttgggga
     2401 aatgacatgg cttgattgtt ctgtttaaat ttgtactgtg gcttatgtta cacatgttca
     2461 tgttcacctc tcattcacct gttttatatg gtttaaaatt ctctttaaca aaattcagaa
     2521 aattcacctg aaacgtattt tgacctaaaa gaaacatatt tttgtatcag tattgaattt
     2581 tggacagtgc ccccatataa ggaagttact gttttaaaat aaagcaaact aactgtttta
     2641 ttttccttgg a
//
