LOCUS       NM_006796               3160 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens AFG3 like matrix AAA peptidase subunit 2 (AFG3L2),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_006796
VERSION     NM_006796.3
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 3160)
  AUTHORS   Amore,G., Romagnoli,M., Carbonelli,M., Cascavilla,M.L., De
            Negri,A.M., Carta,A., Parisi,V., Di Renzo,A., Schiavi,C.,
            Lenzetti,C., Zenesini,C., Ormanbekova,D., Palombo,F., Fiorini,C.,
            Caporali,L., Carelli,V., Barboni,P. and La Morgia,C.
  TITLE     AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype
            Characterization Compared to OPA1 Patients
  JOURNAL   Am J Ophthalmol 262, 114-124 (2024)
   PUBMED   38278202
  REMARK    GeneRIF: AFG3L2 and ACO2-Linked Dominant Optic Atrophy:
            Genotype-Phenotype Characterization Compared to OPA1 Patients.
REFERENCE   2  (bases 1 to 3160)
  AUTHORS   Shi,X., DeCiucis,M., Grabinska,K.A., Kanyo,J., Liu,A., Lam,T.T. and
            Shen,H.
  TITLE     Dual regulation of SLC25A39 by AFG3L2 and iron controls
            mitochondrial glutathione homeostasis
  JOURNAL   Mol Cell 84 (4), 802-810 (2024)
   PUBMED   38157846
  REMARK    GeneRIF: Dual regulation of SLC25A39 by AFG3L2 and iron controls
            mitochondrial glutathione homeostasis.
REFERENCE   3  (bases 1 to 3160)
  AUTHORS   Colucci,F., Neri,M., Fortunato,F., Ferlini,A., Carrozzo,R.,
            Torraco,A., Lamantea,E., Legati,A., Tecilla,G., Pugliatti,M. and
            Sensi,M.
  TITLE     AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian
            Patients
  JOURNAL   Cerebellum 22 (6), 1313-1319 (2023)
   PUBMED   36447112
  REMARK    GeneRIF: AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two
            Italian Patients.
REFERENCE   4  (bases 1 to 3160)
  AUTHORS   Liu,Y., Liu,S., Tomar,A., Yen,F.S., Unlu,G., Ropek,N., Weber,R.A.,
            Wang,Y., Khan,A., Gad,M., Peng,J., Terzi,E., Alwaseem,H.,
            Pagano,A.E., Heissel,S., Molina,H., Allwein,B., Kenny,T.C.,
            Possemato,R.L., Zhao,L., Hite,R.K., Vinogradova,E.V., Mansy,S.S.
            and Birsoy,K.
  TITLE     Autoregulatory control of mitochondrial glutathione homeostasis
  JOURNAL   Science 382 (6672), 820-828 (2023)
   PUBMED   37917749
  REMARK    GeneRIF: Autoregulatory control of mitochondrial glutathione
            homeostasis.
REFERENCE   5  (bases 1 to 3160)
  AUTHORS   Mariotti,C., Brusco,A., Di Bella,D., Cagnoli,C., Seri,M.,
            Gellera,C., Di Donato,S. and Taroni,F.
  TITLE     Spinocerebellar ataxia type 28: a novel autosomal dominant
            cerebellar ataxia characterized by slow progression and
            ophthalmoparesis
  JOURNAL   Cerebellum 7 (2), 184-188 (2008)
   PUBMED   18769991
REFERENCE   6  (bases 1 to 3160)
  AUTHORS   Cagnoli,C., Mariotti,C., Taroni,F., Seri,M., Brussino,A.,
            Michielotto,C., Grisoli,M., Di Bella,D., Migone,N., Gellera,C., Di
            Donato,S. and Brusco,A.
  TITLE     SCA28, a novel form of autosomal dominant cerebellar ataxia on
            chromosome 18p11.22-q11.2
  JOURNAL   Brain 129 (Pt 1), 235-242 (2006)
   PUBMED   16251216
REFERENCE   7  (bases 1 to 3160)
  AUTHORS   Atorino,L., Silvestri,L., Koppen,M., Cassina,L., Ballabio,A.,
            Marconi,R., Langer,T. and Casari,G.
  TITLE     Loss of m-AAA protease in mitochondria causes complex I deficiency
            and increased sensitivity to oxidative stress in hereditary spastic
            paraplegia
  JOURNAL   J Cell Biol 163 (4), 777-787 (2003)
   PUBMED   14623864
REFERENCE   8  (bases 1 to 3160)
  AUTHORS   Banfi,S., Bassi,M.T., Andolfi,G., Marchitiello,A., Zanotta,S.,
            Ballabio,A., Casari,G. and Franco,B.
  TITLE     Identification and characterization of AFG3L2, a novel
            paraplegin-related gene
  JOURNAL   Genomics 59 (1), 51-58 (1999)
   PUBMED   10395799
REFERENCE   9  (bases 1 to 3160)
  AUTHORS   Brussino,A., Brusco,A., Durr,A. and Mancini,C.
  TITLE     Spinocerebellar Ataxia Type 28
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21595125
REFERENCE   10 (bases 1 to 3160)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DN993083.1, BC024282.1,
            BU786821.1 and BX091241.1.
            
            On Aug 31, 2019 this sequence version replaced NM_006796.2.
            
            Summary: This gene encodes a protein localized in mitochondria and
            closely related to paraplegin. The paraplegin gene is responsible
            for an autosomal recessive form of hereditary spastic paraplegia.
            This gene is a candidate gene for other hereditary spastic
            paraplegias or neurodegenerative disorders. [provided by RefSeq,
            Jul 2008].
            
            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 :: BC065016.1, Y18314.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000269143.8/
                                                  ENSP00000269143.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-543               DN993083.1         94-636
            544-2566            BC024282.1         446-2468
            2567-3156           BU786821.1         14-603              c
            3157-3160           BX091241.1         554-557
FEATURES             Location/Qualifiers
     source          1..3160
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.21"
     gene            1..3160
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /note="AFG3 like matrix AAA peptidase subunit 2"
                     /db_xref="GeneID:10939"
                     /db_xref="HGNC:HGNC:315"
                     /db_xref="MIM:604581"
     exon            1..259
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     CDS             146..2539
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /note="ATPase family gene 3, yeast; AFG3-like protein 2;
                     paraplegin-like protein; AFG3 like AAA ATPase 2; AFG3
                     ATPase family gene 3-like 2; AFG3 ATPase family member
                     3-like 2"
                     /codon_start=1
                     /product="mitochondrial inner membrane m-AAA protease
                     component AFG3L2"
                     /protein_id="NP_006787.2"
                     /db_xref="CCDS:CCDS11859.1"
                     /db_xref="GeneID:10939"
                     /db_xref="HGNC:HGNC:315"
                     /db_xref="MIM:604581"
                     /translation="MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVT
                     TQARASRNSLLTDIIAAYQRFCSRPPKGFEKYFPNGKNGKKASEPKEVMGEKKESKPA
                     ATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFY
                     LLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGS
                     VDTFERNLETLQQELGIEGENRVPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPA
                     GIGRTGRGMGGLFSVGETTAKVLKDEIDVKFKDVAGCEEAKLEIMEFVNFLKNPKQYQ
                     DLGAKIPKGAILTGPPGTGKTLLAKATAGEANVPFITVSGSEFLEMFVGVGPARVRDL
                     FALARKNAPCILFIDEIDAVGRKRGRGNFGGQSEQENTLNQLLVEMDGFNTTTNVVIL
                     AGTNRPDILDPALLRPGRFDRQIFIGPPDIKGRASIFKVHLRPLKLDSTLEKDKLARK
                     LASLTPGFSGADVANVCNEAALIAARHLSDSINQKHFEQAIERVIGGLEKKTQVLQPE
                     EKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDR
                     MCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGD
                     MVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKKADVEKVALLLLEKEVLDKND
                     MVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWNKEREKEKEEPPGEKVAN"
     exon            260..359
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            360..437
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            438..544
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            545..697
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            698..772
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            773..897
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            898..1171
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1309
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            1310..1463
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1571
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1697
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..1808
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            1809..1924
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            1925..2125
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            2126..2320
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     exon            2321..3160
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2966..2971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /note="hexamer: ATTAAA"
     polyA_site      2989
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /note="major polyA site"
     regulatory      3127..3132
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
                     /note="hexamer: AATAAA"
     polyA_site      3160
                     /gene="AFG3L2"
                     /gene_synonym="OPA12; SCA28; SPAX5"
ORIGIN      
        1 gagagcttgg gctcctccgt gagccgccgg cgcgcttcgc tgcctggcgg cctttccccg
       61 agccgagccc gcttcccgag gccgccagtc gtcgcctgcc cgcgcctgcg cagcgtcccg
      121 ggccgagagg gccacggcgg cggccatggc gcaccgctgt ttgcggctgt ggggccgggg
      181 cggctgctgg ccccgcggcc tacagcagct cctcgtgcct ggcggcgtgg gcccgggcga
      241 gcagccctgc ctccggacgc tttaccgatt tgttacaact caagcaaggg ccagcagaaa
      301 ttctcttttg acagatataa ttgctgctta tcaaagattc tgttctcgac ccccaaaagg
      361 atttgaaaaa tactttccta atggaaaaaa tggaaaaaaa gctagtgaac ctaaagaagt
      421 tatgggagag aaaaaagaat caaagccagc tgctaccaca cgctcttctg gaggaggagg
      481 tggtggcggt ggaaaacgag gtggcaagaa agatgattct cactggtggt ccaggtttca
      541 gaagggtgac attccatggg acgacaagga tttcaggatg ttcttcctct ggactgctct
      601 gttctggggt ggagtcatgt tttacttgct gctcaagaga tccgggagag aaatcacttg
      661 gaaggacttt gtcaataact atctttcaaa aggagtagta gacagattgg aagtcgtcaa
      721 caagcgtttt gttcgagtga cctttacacc aggaaaaact cctgttgatg ggcaatacgt
      781 ttggtttaat attggcagtg tggacacctt tgaacggaat ctggaaactt tacagcagga
      841 attgggcata gaaggagaaa atcgggtgcc tgttgtctac attgctgaaa gtgatggctc
      901 ttttctgctg agcatgctgc ctacggtgct catcatcgcc ttcttgctct acaccatcag
      961 aagagggcct gctggcattg gccggacagg ccgagggatg ggcggactct tcagtgtcgg
     1021 agaaaccact gccaaggtct taaaggatga aattgatgtg aagttcaaag atgtggctgg
     1081 ctgtgaggag gccaagctag agatcatgga atttgtgaat ttcttgaaaa acccaaagca
     1141 gtatcaagac ctaggagcaa aaatcccaaa gggtgccatt ctcactggtc ctccaggcac
     1201 tgggaagacg ctgctagcta aggccacagc cggagaagcc aatgtcccct tcatcaccgt
     1261 tagtggatct gagtttttgg agatgttcgt tggtgtgggc cctgctagag tccgagactt
     1321 atttgccctt gctcggaaga atgccccttg catcctcttc atcgatgaaa tcgatgcggt
     1381 gggaaggaag agaggaagag gcaactttgg agggcagagt gagcaggaga acacactcaa
     1441 ccagctgctg gtggagatgg atggttttaa tacaacaaca aatgtcgtca ttttggccgg
     1501 caccaatcga ccagatatcc tggaccccgc gctgcttagg ccggggcgtt tcgacaggca
     1561 gatctttatt ggaccaccag acataaaagg aagagcttct attttcaaag ttcatctccg
     1621 accgctaaaa ctggacagta ccctggagaa ggataaattg gcaagaaaac tggcatcttt
     1681 aactccaggg ttttcaggtg ctgatgttgc taatgtctgt aatgaagctg cgttgattgc
     1741 tgcaaggcat ctgtcagatt ccataaatca gaaacacttt gaacaggcaa ttgaacgagt
     1801 gattggtggc ttagagaaga aaacgcaggt tctgcagcct gaggagaaga agactgtggc
     1861 ataccacgaa gcaggccatg cggttgccgg ctggtatctg gagcacgcag acccgctttt
     1921 aaaggtatcc atcatcccac gtggcaaagg actaggttat gctcagtatt taccaaaaga
     1981 acaatacctc tataccaaag agcagctctt ggataggatg tgtatgactt taggtggtcg
     2041 agtctctgaa gaaatcttct ttggaagaat tacaactggt gctcaagatg acttgagaaa
     2101 agtaactcag agtgcatatg cccaaattgt tcagtttggc atgaatgaaa aggttgggca
     2161 aatctccttt gacctcccac gtcaggggga catggtattg gagaaacctt acagtgaagc
     2221 cactgcaaga ttgatagatg atgaagtacg aatacttatt aatgatgctt ataaaagaac
     2281 agtagctctt ctcacagaaa agaaagctga cgtggagaag gttgctcttc tgttgttaga
     2341 aaaagaagta ttagataaga atgatatggt tgaacttttg ggccccagac catttgcgga
     2401 aaaatctacc tatgaagaat ttgtggaagg cactggcagc ttggatgagg acacctcact
     2461 tccagaaggc cttaaggact ggaacaagga gcgggaaaag gagaaagagg agcccccggg
     2521 tgagaaagtt gccaactaga ggcccagagg gaggccatct cagtctgtcc actgtggttt
     2581 cagctggtgc attatttcag ctgtggcttt cagaagaatg ggaatgctgc gctgatttta
     2641 gccagccact ggcccagctg aaatgatggg gaaaggagtc cttagtcctt tcagcctcag
     2701 aggtcacagt gggtggcagg tgactttccg gaggccttga gggaaatgca cactgtccca
     2761 tagcctcatt gggctcccag acgtgctgga aaggttgagc ccagagtggc cgaggctgga
     2821 ccctgtggca ccaagtgggg tcggctgacc gtgtggcagg gatcgttgca ctggactctt
     2881 ggcgtgtggg aagggatgct ttctctttgt cgcccactct tcattcctgt ttctcctcag
     2941 ttcccctgtg cagatgggct gtgaaattaa attggagtct tgataagaac attttaattt
     3001 gacttaatat tttaaagatt gaatccagat cacttgttgc tgtcttaatg gaatggtttt
     3061 ctacaggagc tgtaacatac ttaaaaatat gaatgtatta tgtaaatatg gcttctttac
     3121 ataaaaaata aaatgtcaac actgtacttt tctgaacaca
//
