LOCUS       NM_003119               3076 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens SPG7 matrix AAA peptidase subunit, paraplegin (SPG7),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_003119 NM_005200
VERSION     NM_003119.4
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 3076)
  AUTHORS   Wang,S., Wang,Y., Wu,Y., Zhang,J., Zhang,W., Li,C. and Song,X.
  TITLE     A novel compound heterozygous SPG7 variant is associated with
            progressive spastic ataxia and persecutory delusions found in
            Chinese patients: two case reports
  JOURNAL   BMC Neurol 22 (1), 200 (2022)
   PUBMED   35637455
  REMARK    GeneRIF: A novel compound heterozygous SPG7 variant is associated
            with progressive spastic ataxia and persecutory delusions found in
            Chinese patients: two case reports.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3076)
  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 3076)
  AUTHORS   Baviera-Munoz,R., Campins-Romeu,M., Carretero-Vilarroig,L.,
            Sastre-Bataller,I., Martinez-Torres,I., Vazquez-Costa,J.F.,
            Muelas,N., Sevilla,T., Vilchez,J.J., Aller,E., Jaijo,T.,
            Bataller,L. and Espinos,C.
  TITLE     Clinical and genetic characteristics of 21 Spanish patients with
            biallelic pathogenic SPG7 mutations
  JOURNAL   J Neurol Sci 429, 118062 (2021)
   PUBMED   34500365
  REMARK    GeneRIF: Clinical and genetic characteristics of 21 Spanish
            patients with biallelic pathogenic SPG7 mutations.
REFERENCE   4  (bases 1 to 3076)
  AUTHORS   Settasatian,C., Whitmore,S.A., Crawford,J., Bilton,R.L.,
            Cleton-Jansen,A.M., Sutherland,G.R. and Callen,D.F.
  TITLE     Genomic structure and expression analysis of the spastic paraplegia
            gene, SPG7
  JOURNAL   Hum Genet 105 (1-2), 139-144 (1999)
   PUBMED   10480368
REFERENCE   5  (bases 1 to 3076)
  AUTHORS   Casari,G., De Fusco,M., Ciarmatori,S., Zeviani,M., Mora,M.,
            Fernandez,P., De Michele,G., Filla,A., Cocozza,S., Marconi,R.,
            Durr,A., Fontaine,B. and Ballabio,A.
  TITLE     Spastic paraplegia and OXPHOS impairment caused by mutations in
            paraplegin, a nuclear-encoded mitochondrial metalloprotease
  JOURNAL   Cell 93 (6), 973-983 (1998)
   PUBMED   9635427
REFERENCE   6  (bases 1 to 3076)
  AUTHORS   Durbin,H., Novelli,M. and Bodmer,W.
  TITLE     Detection of a 4-bp insertion (CACA) functional polymorphism at
            nucleotide 241 of the cellular adhesion regulatory molecule CMAR
            (formerly CAR)
  JOURNAL   Genomics 19 (1), 181-182 (1994)
   PUBMED   7993411
REFERENCE   7  (bases 1 to 3076)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   8  (bases 1 to 3076)
  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
REFERENCE   9  (bases 1 to 3076)
  AUTHORS   Casari,G. and Marconi,R.
  TITLE     Spastic Paraplegia 7
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301286
REFERENCE   10 (bases 1 to 3076)
  AUTHORS   Pullman,W.E. and Bodmer,W.F.
  TITLE     Cloning and characterization of a gene that regulates cell adhesion
  JOURNAL   Nature 356 (6369), 529-532 (1992)
   PUBMED   1560826
  REMARK    Erratum:[Nature. 1993 Feb 11;361(6412):564. doi: 10.1038/361564c0..
            PMID: 8429914]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY006239.1, Y16610.1 and
            BC036104.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_003119.3.
            
            Summary: This gene encodes a mitochondrial metalloprotease protein
            that is a member of the AAA family. Members of this protein family
            share an ATPase domain and have roles in diverse cellular processes
            including membrane trafficking, intracellular motility, organelle
            biogenesis, protein folding, and proteolysis. Mutations in this
            gene cause autosomal recessive spastic paraplegia 7. Two transcript
            variants encoding distinct isoforms have been identified. [provided
            by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: BC036104.1, SRR1660809.210110.1
                                           [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                 :: ENST00000645818.2/
                                                  ENSP00000495795.2
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-198               HY006239.1         17-214
            199-1902            Y16610.1           196-1899
            1903-3076           BC036104.1         1903-3076
FEATURES             Location/Qualifiers
     source          1..3076
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..3076
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /note="SPG7 matrix AAA peptidase subunit, paraplegin"
                     /db_xref="GeneID:6687"
                     /db_xref="HGNC:HGNC:11237"
                     /db_xref="MIM:602783"
     exon            1..198
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..2403
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; cell matrix adhesion regulator; spastic
                     paraplegia 7 protein; spastic paraplegia 7 (pure and
                     complicated autosomal recessive); SPG7, paraplegin matrix
                     AAA peptidase subunit; mitochondrial inner membrane m-AAA
                     protease component paraplegin"
                     /codon_start=1
                     /product="mitochondrial inner membrane m-AAA protease
                     component paraplegin isoform 1 precursor"
                     /protein_id="NP_003110.1"
                     /db_xref="CCDS:CCDS10977.1"
                     /db_xref="GeneID:6687"
                     /db_xref="HGNC:HGNC:11237"
                     /db_xref="MIM:602783"
                     /translation="MAVLLLLLRALRRGPGPGPRPLWGPGPAWSPGFPARPGRGRPYM
                     ASRPPGDLAEAGGRALQSLQLRLLTPTFEGINGLLLKQHLVQNPVRLWQLLGGTFYFN
                     TSRLKQKNKEKDKSKGKAPEEDEEERRRRERDDQMYRERLRTLLVIAVVMSLLNALST
                     SGGSISWNDFVHEMLAKGEVQRVQVVPESDVVEVYLHPGAVVFGRPRLALMYRMQVAN
                     IDKFEEKLRAAEDELNIEAKDRIPVSYKRTGFFGNALYSVGMTAVGLAILWYVFRLAG
                     MTGREGGFSAFNQLKMARFTIVDGKMGKGVSFKDVAGMHEAKLEVREFVDYLKSPERF
                     LQLGAKVPKGALLLGPPGCGKTLLAKAVATEAQVPFLAMAGPEFVEVIGGLGAARVRS
                     LFKEARARAPCIVYIDEIDAVGKKRSTTMSGFSNTEEEQTLNQLLVEMDGMGTTDHVI
                     VLASTNRADILDGALMRPGRLDRHVFIDLPTLQERREIFEQHLKSLKLTQSSTFYSQR
                     LAELTPGFSGADIANICNEAALHAAREGHTSVHTLNFEYAVERVLAGTAKKSKILSKE
                     EQKVVAFHESGHALVGWMLEHTEAVMKVSITPRTNAALGFAQMLPRDQHLFTKEQLFE
                     RMCMALGGRASEALSFNEVTSGAQDDLRKVTRIAYSMVKQFGMAPGIGPISFPEAQEG
                     LMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQDNLDKLQALANALLEKEVINY
                     EDIEALIGPPPHGPKKMIAPQRWIDAQREKQDLGEEETEETQQPPLGGEEPTWPK"
     exon            199..301
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            302..391
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            392..633
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            634..773
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            774..876
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            877..1002
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1165
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1339
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            1340..1464
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            1465..1567
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            1568..1678
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            1679..1794
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            1795..1951
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            1952..2118
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            2119..2196
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     exon            2197..3076
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3051..3056
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /note="hexamer: AATAAA"
     polyA_site      3076
                     /gene="SPG7"
                     /gene_synonym="CAR; CMAR; PGN; SPG5C"
                     /note="major polyA site"
ORIGIN      
        1 ggctttcagg ccaacatggc cgtgctgctg ctgctgctcc gtgccctccg ccggggtcca
       61 ggcccgggtc ctcggccgct gtggggccca ggcccggcct ggagtccagg gttccccgcc
      121 aggcccggga gggggcggcc gtacatggcc agcaggcctc cgggggacct cgccgaggct
      181 ggaggccgag ctctgcagag cttacaattg agactgctaa cccctacctt tgaagggatc
      241 aacggattgt tgttgaaaca acatttagtt cagaatccag tcagactctg gcaactttta
      301 ggtggtactt tctattttaa cacctcaagg ttgaagcaga agaataagga gaaggataag
      361 tcgaagggga aggcgcctga agaggacgaa gaggagagga gacgccgtga gcgggacgac
      421 cagatgtacc gagagcggct gcgcaccttg ctggtcatcg cggttgtcat gagcctcctg
      481 aatgctctca gcaccagcgg aggcagcatt tcctggaacg actttgtcca cgagatgctg
      541 gccaagggcg aggtgcagcg cgtccaggtg gtgcctgaga gcgacgtggt ggaagtctac
      601 ctgcaccctg gagccgtggt gtttgggcgg cctcggctag ccttgatgta ccgaatgcag
      661 gttgcaaata ttgacaagtt tgaagagaag cttcgagcag ctgaagatga gctgaatatc
      721 gaggccaagg acaggatccc agtttcctac aagcgaacag gattctttgg aaatgccctg
      781 tactctgtgg ggatgacggc agtgggcctg gccatcctgt ggtatgtttt ccgtctggcc
      841 gggatgactg gaagggaagg tggattcagt gcttttaatc agcttaaaat ggctcgtttc
      901 accattgtgg atgggaagat ggggaaagga gtcagcttca aagacgtggc aggaatgcac
      961 gaagccaaac tggaagtccg cgagtttgtg gattatctga agagcccaga acgcttcctc
     1021 cagcttggcg ccaaggtccc aaagggcgca ctgctgctcg gcccccccgg ctgtgggaag
     1081 acgctgctgg ccaaggcggt ggccacggag gctcaggtgc ccttcctggc gatggccggc
     1141 ccagagttcg tggaggtcat tggaggcctc ggcgctgccc gtgtgcggag cctctttaag
     1201 gaagcccgag cccgggcccc ctgcatcgtc tacatcgatg agatcgacgc ggtgggcaag
     1261 aagcgctcca ccaccatgtc cggcttctcc aacacggagg aggagcagac gctcaaccag
     1321 cttctggtag aaatggatgg aatgggtacc acagaccatg tcatcgtcct ggcgtccacg
     1381 aaccgagctg acattttgga cggtgctctg atgaggccag gccgactgga ccggcacgtc
     1441 ttcattgatc tccccacgct gcaggagagg cgggagattt ttgagcagca cctgaagagc
     1501 ctgaagctga cccagtccag caccttttac tcccagcgtc tggcagagct gacaccagga
     1561 ttcagtgggg ctgacatcgc caacatctgc aatgaggctg cgctgcacgc ggcgcgggag
     1621 ggacacactt ccgtgcacac tctcaacttc gagtacgccg tggagcgcgt cctcgcaggg
     1681 actgccaaaa agagcaagat cctgtccaag gaagaacaga aagtggttgc gtttcatgag
     1741 tcgggccacg ccttggtggg ctggatgctg gagcacacgg aggccgtgat gaaggtctcc
     1801 ataacccctc ggacaaacgc cgccctgggc tttgctcaga tgctccccag agaccagcac
     1861 ctcttcacca aggagcagct gtttgagcgg atgtgcatgg ccctgggagg acgggcctcg
     1921 gaagcactgt ccttcaacga ggtcacttct ggggcacagg acgacctgag gaaggtcacc
     1981 cgcatcgcct actccatggt gaagcagttt gggatggcac ctggcatcgg gcccatctcc
     2041 ttccctgagg cgcaggaggg cctcatgggc atcgggcggc gccccttcag ccaaggcctg
     2101 cagcagatga tggaccatga agcaagactg ctggtggcca aggcctacag acacaccgag
     2161 aaggtgctgc aggacaacct ggacaagttg caggcgctgg caaacgccct tctggaaaag
     2221 gaagtgataa actatgagga cattgaggct ctcattggcc cgccgcccca tgggccgaag
     2281 aaaatgatcg caccgcagag gtggatcgac gcccagaggg agaaacagga cttgggcgag
     2341 gaggagaccg aagagaccca gcagcctcca cttggaggcg aagagccgac ttggcccaag
     2401 tagttgggag gtgttggctg cacgtgcggg tggtccggga agtgagggct cactcagcca
     2461 ccctgagttg cttttcagct gaggtttgca cttcctctcg cggccctcag tagtccctgc
     2521 acagtgactt ctgagatctg ttgattgatg acccttttca tgattttaag tttctctgca
     2581 gaaactactg acggagtcct gtgtttgtga gtcgtttccc ctatggggaa ggttatcagt
     2641 gcttcccgag tgagcatgga acacttcgag ttcccagggt tatagacagt cgttcccagt
     2701 gtggctgagg ccacccagag gcagcagagc attcagactc caaacagacc cctgttcatg
     2761 ccgacgcttg cacgaccgcc ccagttcctg tggctccctc ggaatgctaa ggggatcgga
     2821 catgaaagga ccctgtgagc cgattgtcct atctccagcg gccctgtcat ccagctcact
     2881 catcaatggg gccagtcagg cccaggcact gggctccgga ggactcacca ctgccccctg
     2941 ctgccatgtg gactggtgca agttgaggac ttcttgctgg tctagtcacg catgcagtgt
     3001 tggggatgcc ttggttttta ctgctctgag aattgttgag atactttact aataaactgt
     3061 gtagttggaa aatcta
//
