LOCUS       NM_054070               4288 bp    mRNA    linear   ROD 02-JUN-2024
DEFINITION  Mus musculus AFG3-like AAA ATPase 1 (Afg3l1), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_054070
VERSION     NM_054070.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4288)
  AUTHORS   Murru,S., Hess,S., Barth,E., Almajan,E.R., Schatton,D., Hermans,S.,
            Brodesser,S., Langer,T., Kloppenburg,P. and Rugarli,E.I.
  TITLE     Astrocyte-specific deletion of the mitochondrial m-AAA protease
            reveals glial contribution to neurodegeneration
  JOURNAL   Glia 67 (8), 1526-1541 (2019)
   PUBMED   30989755
  REMARK    GeneRIF: Astrocyte-specific deletion of Afg3l2 in the mouse leads
            to late-onset motor impairment and to degeneration of BG, which
            display aberrant morphology, altered expression of the glutamate
            transporter EAAT2, and a reactive inflammatory signature. The
            neurological and glial phenotypes are drastically exacerbated when
            astrocytes lack both Afg31l and Afg3l2, and therefore, are totally
            depleted of the m-AAA protease.
REFERENCE   2  (bases 1 to 4288)
  AUTHORS   Wang,S., Jacquemyn,J., Murru,S., Martinelli,P., Barth,E.,
            Langer,T., Niessen,C.M. and Rugarli,E.I.
  TITLE     The Mitochondrial m-AAA Protease Prevents Demyelination and Hair
            Greying
  JOURNAL   PLoS Genet 12 (12), e1006463 (2016)
   PUBMED   27911893
  REMARK    GeneRIF: total ablation of the m-AAA protease, by deleting both
            Afg3l2 and its paralogue Afg3l1, triggers progressive motor
            dysfunction and demyelination, owing to rapid oligodendrocyte cell
            death.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4288)
  AUTHORS   Richter-Dennerlein,R., Korwitz,A., Haag,M., Tatsuta,T.,
            Dargazanli,S., Baker,M., Decker,T., Lamkemeyer,T., Rugarli,E.I. and
            Langer,T.
  TITLE     DNAJC19, a mitochondrial cochaperone associated with
            cardiomyopathy, forms a complex with prohibitins to regulate
            cardiolipin remodeling
  JOURNAL   Cell Metab 20 (1), 158-171 (2014)
   PUBMED   24856930
REFERENCE   4  (bases 1 to 4288)
  AUTHORS   Ehses,S., Raschke,I., Mancuso,G., Bernacchia,A., Geimer,S.,
            Tondera,D., Martinou,J.C., Westermann,B., Rugarli,E.I. and
            Langer,T.
  TITLE     Regulation of OPA1 processing and mitochondrial fusion by m-AAA
            protease isoenzymes and OMA1
  JOURNAL   J Cell Biol 187 (7), 1023-1036 (2009)
   PUBMED   20038678
REFERENCE   5  (bases 1 to 4288)
  AUTHORS   Koppen,M., Bonn,F., Ehses,S. and Langer,T.
  TITLE     Autocatalytic processing of m-AAA protease subunits in mitochondria
  JOURNAL   Mol Biol Cell 20 (19), 4216-4224 (2009)
   PUBMED   19656850
  REMARK    GeneRIF: Data show that Afg3l1 or Afg3l2 are required for
            maturation of newly imported paraplegin subunits after their
            cleavage by MPP.
REFERENCE   6  (bases 1 to 4288)
  AUTHORS   Koppen,M., Metodiev,M.D., Casari,G., Rugarli,E.I. and Langer,T.
  TITLE     Variable and tissue-specific subunit composition of mitochondrial
            m-AAA protease complexes linked to hereditary spastic paraplegia
  JOURNAL   Mol Cell Biol 27 (2), 758-767 (2007)
   PUBMED   17101804
REFERENCE   7  (bases 1 to 4288)
  AUTHORS   Garcia-Frigola,C., Burgaya,F., Calbet,M., Lopez-Domenech,G., de
            Lecea,L. and Soriano,E.
  TITLE     A collection of cDNAs enriched in upper cortical layers of the
            embryonic mouse brain
  JOURNAL   Brain Res Mol Brain Res 122 (2), 133-150 (2004)
   PUBMED   15010206
REFERENCE   8  (bases 1 to 4288)
  AUTHORS   Mootha,V.K., Bunkenborg,J., Olsen,J.V., Hjerrild,M.,
            Wisniewski,J.R., Stahl,E., Bolouri,M.S., Ray,H.N., Sihag,S.,
            Kamal,M., Patterson,N., Lander,E.S. and Mann,M.
  TITLE     Integrated analysis of protein composition, tissue diversity, and
            gene regulation in mouse mitochondria
  JOURNAL   Cell 115 (5), 629-640 (2003)
   PUBMED   14651853
REFERENCE   9  (bases 1 to 4288)
  AUTHORS   Kremmidiotis,G., Gardner,A.E., Settasatian,C., Savoia,A.,
            Sutherland,G.R. and Callen,D.F.
  TITLE     Molecular and functional analyses of the human and mouse genes
            encoding AFG3L1, a mitochondrial metalloprotease homologous to the
            human spastic paraplegia protein
  JOURNAL   Genomics 76 (1-3), 58-65 (2001)
   PUBMED   11549317
  REMARK    GeneRIF: Afg3l1 encodes a protein that is targeted to the
            mitochondria and shows high homology to human paraplegin and other
            members of the ATP-dependent zinc metalloprotease family.
REFERENCE   10 (bases 1 to 4288)
  AUTHORS   Nishiguchi,S., Joh,T., Horie,K., Zou,Z., Yasunaga,T. and Shimada,K.
  TITLE     A survey of genes expressed in undifferentiated mouse embryonal
            carcinoma F9 cells: characterization of low-abundance mRNAs
  JOURNAL   J Biochem 116 (1), 128-139 (1994)
   PUBMED   7798170
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC158362.5, AK159647.1 and BC056978.1.
            
            On Jul 31, 2009 this sequence version replaced NM_054070.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC056978.1, AK159647.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849379
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                AC158362.5         53308-53345         c
            39-3019             AK159647.1         3-2983
            3020-4288           BC056978.1         2975-4243
FEATURES             Location/Qualifiers
     source          1..4288
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 72.1 cM"
     gene            1..4288
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /note="AFG3-like AAA ATPase 1"
                     /db_xref="GeneID:114896"
                     /db_xref="MGI:MGI:1928277"
     exon            1..186
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..2418
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /note="AFG3-like protein 1; AFG3(ATPase family gene
                     3)-like 1"
                     /codon_start=1
                     /product="mitochondrial inner membrane m-AAA protease
                     component AFG3L1"
                     /protein_id="NP_473411.2"
                     /db_xref="CCDS:CCDS22760.1"
                     /db_xref="GeneID:114896"
                     /db_xref="MGI:MGI:1928277"
                     /translation="MLLRLVGAAGSRALAWPFSKLWRCGGCAGSGGTVWSSVRACGIA
                     LQGHLGRCSQQLALQGKLTSFSPRLYSKPPRGFEKFFKNKKNRKSASPGNSVPPKKEP
                     KNAGPGGDGGNRGGKGDDFPWWKRMQKGEFPWDDKDFRSLAVLGAGVAAGFLYFYFRD
                     PGKEITWKHFVQYYLARGLVDRLEVVNKQFVRVIPVPGTTSERFVWFNIGSVDTFERN
                     LESAQWELGIEPTNQAAVVYTTESDGSFLRSLVPTLVLVSILLYAMRRGPMGTGRGGR
                     GGGLFSVGETTAKILKNNIDVRFADVAGCEEAKLEIMEFVNFLKNPKQYQDLGAKIPK
                     GAMLTGPPGTGKTLLAKATAGEANVPFITVNGSEFLEMFVGVGPARVRDMFAMARKHA
                     PCILFIDEIDAIGRKRGRGHLGGQSEQENTLNQMLVEMDGFNSSTNVVVLAGTNRPDI
                     LDPALTRPGRFDRQIYIGPPDIKGRSSIFKVHLRPLKLDGSLSKDALSRKLAALTPGF
                     TGADISNVCNEAALIAARHLSPSVQERHFEQAIERVIGGLEKKTQVLQPSEKTTVAYH
                     EAGHAVVGWFLEHADPLLKVSIIPRGKGLGYAQYLPREQFLYTREQLFDRMCMMLGGR
                     VAEQLFFGQITTGAQDDLRKVTQSAYAQIVQFGMSEKLGQVSFDFPRQGETMVEKPYS
                     EATAQLIDEEVRCLVRSAYNRTLELLTQCREQVEKVGRRLLEKEVLEKADMIELLGPR
                     PFAEKSTYEEFVEGTGSLEEDTSLPEGLKDWNKGREEGGTERGLQESPV"
     exon            187..274
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            275..349
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            350..435
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            436..585
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            586..654
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            655..779
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            780..1050
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1051..1188
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1342
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1343..1450
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..1576
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1577..1687
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1688..1803
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1804..2004
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2005..2199
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2200..4268
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2507..2512
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /note="hexamer: ATTAAA"
     polyA_site      2530
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
                     /note="major polyA site"
     polyA_site      4268
                     /gene="Afg3l1"
                     /gene_synonym="1700047G05Rik; 3110061K15Rik"
ORIGIN      
        1 gctgcgcgtg cgcgcgccca gggggcggcg cgaggtcagg gccgggggat gttactgcgg
       61 ctggtggggg cggcgggcag tcgagccctg gcctggcctt tctccaagct gtggcgatgt
      121 ggcggatgcg cagggagcgg cgggacggtc tggagcagcg tgagggcctg tggcattgct
      181 ctgcagggtc atctggggag atgctcgcag cagctggctc tgcagggaaa actgacttca
      241 ttttccccga ggctgtattc aaaacctccc agagggtttg agaagttttt taagaataag
      301 aagaacagaa aaagtgcaag cccaggaaat tcagtacctc caaaaaaaga accaaaaaat
      361 gctggccctg gaggagatgg aggcaacaga ggagggaaag gagatgattt tccctggtgg
      421 aaacggatgc aaaagggaga atttccttgg gacgacaagg acttccggag cctggctgtt
      481 ttgggggctg gtgtggctgc gggattttta tatttttatt tccgagatcc cggaaaagag
      541 atcacctgga aacacttcgt gcagtattac ctggccagag gtctggtgga ccggctagag
      601 gttgtgaaca agcagtttgt gcgtgttatt cctgttcctg ggacgacatc tgagaggttc
      661 gtgtggttta acattggcag tgttgacacc tttgaacgga acctcgagtc tgctcagtgg
      721 gagctgggca ttgagcccac caaccaggct gcggtggtct acactactga gagtgatggc
      781 tcttttctta gaagtcttgt gcccactctg gtcctggtta gcatcctcct atatgctatg
      841 aggaggggtc caatggggac tggtcgcggt gggcgaggag gaggcctctt cagtgttggt
      901 gagacaacag ccaagatctt aaagaacaac atcgatgtgc ggtttgcaga tgtggctggc
      961 tgtgaagaag ccaaactgga aattatggag tttgtgaatt tcctgaagaa cccaaagcaa
     1021 tatcaggact taggagccaa aattccaaag ggagcgatgc tcactggtcc acctggtact
     1081 ggcaaaacac ttcttgcaaa agcaactgct ggggaggcca acgtgccctt catcaccgtg
     1141 aatgggtcgg aattcctgga aatgtttgtt ggtgttgggc cagcacgggt ccgtgacatg
     1201 tttgcaatgg cccgaaaaca cgctccttgt attttattca ttgatgagat tgatgcaatt
     1261 ggcagaaagc gaggccgtgg ccacctggga ggccagagtg agcaggaaaa cactttaaac
     1321 cagatgcttg tggagatgga cgggttcaac tcttccacta atgtggtagt gttagccggc
     1381 accaatcgcc ctgatatcct tgacccagcc ctgacacggc ctggccggtt tgaccgtcag
     1441 atctacatcg gtccccctga tatcaaaggc aggtcctcta ttttcaaggt ccacttgcgt
     1501 ccactcaagc tggacggaag cctcagcaag gacgctcttt cgaggaagct ggcagctctt
     1561 actccaggct tcactggtgc tgatatttcc aatgtttgca atgaagcagc actgattgct
     1621 gcccgccacc tcagcccttc tgtccaggag cggcactttg agcaagccat cgagagggtc
     1681 attggaggcc ttgagaagaa gacccaggtc ctacaaccca gtgaaaagac aactgtagcc
     1741 taccacgagg ctgggcatgc agtggtgggc tggttcttgg agcatgcaga ccctctgctg
     1801 aaggtgtcca tcatacctcg aggcaagggg cttggctacg cccagtacct tccccgcgag
     1861 cagttcctct acacacgaga gcagctcttc gaccgcatgt gtatgatgct ggggggtagg
     1921 gtagctgagc agctgttctt tggtcagatc accaccggag ctcaggacga cctgaggaag
     1981 gtcacccaga gtgcctatgc ccagattgtg cagtttggga tgagtgagaa gctgggccag
     2041 gtgtcctttg acttccccag acaaggcgaa accatggtgg agaagccata cagtgaggct
     2101 actgcccagc tcattgatga agaggtccgg tgcctcgtca ggtctgccta taatcggacc
     2161 ctggagctgc tcacacagtg ccgggagcag gtggagaagg ttggcaggcg tctcctggag
     2221 aaagaagtgc tggagaaagc cgacatgata gagctcttgg gccctcggcc ctttgcagag
     2281 aagtccacct atgaggaatt tgtagagggc accggcagcc tagaggagga cacatccctt
     2341 cctgaggggc tgaaagactg gaataagggg cgggaggaag gaggcactga gcggggcttg
     2401 caggagagcc ctgtgtagcc tgtggccacc ggggcggctt atgaccactg ctgactggga
     2461 gctgctcagc catcgcagag cagctgtcag agtaactgaa agactaatta aaacaggtga
     2521 caacttcgaa cacacgtctc agataagacc atgcaaaatt cacagaaaag ctgctagact
     2581 ccagcatcca gccaaggaga tagctgaggg aacaaaggtg tggcctgcga ccataggccc
     2641 tggacctaag gctggccggt tctccaggtt ctgtgaagcc tgagtgatgt ctttttggag
     2701 ggattccagg tgtggggctg tgaggagcta cattgtgttt gattaagttt ccaagtgagc
     2761 ctcttacagc tgcttctgag gtaacctgct caagggctga gccctgactc agcacagata
     2821 aaggttggtg aagaagtaaa gaaaacataa gacagttaag gaaggaaggc gagccgggca
     2881 gttgtggatt aaaggcagag catgccttta atcccagcac tcgggaggca gaggcaggct
     2941 tgattcctga gttcgaggcc agcctggttt acagagtgag ttcagggcag ccagggctac
     3001 acagagaaac cctgtcttga aaaaccaaaa aaacaaacaa aaaacaaaaa aaataaaaat
     3061 aaaaaggaag gaagctgctc agcccttagg aaggaaagcc agcgcaccag tagatgtgca
     3121 gtggaggaca gggaccgtgg ccaccccacc tgtggcagcg tcagaaattc tgtttcgtca
     3181 gtcagacctg gcttctagcc tttgggtttc tctgcctcac tgatgggagt gtcagattta
     3241 attccgtctc acagcagtcc ttcctttctc cagcatccat gccccccccc cttttgaacc
     3301 acagagggtg gtttaggttg agccctctgg ctctggtgca tggggagggc tttggaacgc
     3361 caagcctccg tgggctgcaa gaggcctctc tttcctgtta atctgggctg tgtcgaggcc
     3421 tgctctgtga gagccgagtg cttggagtgg agctttgggt tccctggatg ttgttgtgga
     3481 cttgctccag gtttcggggg gacacagatc tcagggctgc accatccgct gcaatagcct
     3541 gcgttggggc tgctcgtggc cctggggagg aatctacttg ctcccttgac tctgtaaaag
     3601 tgtgtgtgtg tgtgcatgtg atagtgtgtc ttcctcaact gctttctatc tctactgttt
     3661 tccacttaca tctgcacacg cacgcaccac ggtgcacatg cgcagggcac aggacaacct
     3721 ctggagtcgg ggctctcctc tgtgtgggtt ccagagatca tcaggcttgg cagaggcgcc
     3781 tctacccact gagccatctc gccacccagt ctaccttgct ttttagatgg agtctcgtat
     3841 tgagtctggc tgtgtttgca ggtcagcaag ccccagggat cctcccgtct ctgcctgccc
     3901 agtgctggga ttgcaggctc acctttatcc tggccgttcc gtgaacgatg cagggctgta
     3961 gtggatgttc atgcttgtgc acaggcacgc taccgaccct cctgcctttc agctgatgcc
     4021 atagcttccc gggtgcctgg ccaggatggt ggaggcctgt ccttctcttt ggggcccggc
     4081 taagggccag attgggtgga ctgggtgtat tagctggatg taaagactat actgggtgtg
     4141 catggtatcg cacattctct aaactgtcac gctcgcctca gagatgtcat caggagacag
     4201 atactttcaa ttttcactgt ttgtaaagtg tacattattg aattttaaaa aaattatttc
     4261 taattgtaaa aaaaaaaaaa aaaaaaaa
//
