LOCUS       NM_031448               4348 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens chromosome 19 open reading frame 12 (C19orf12),
            transcript variant 2, mRNA.
ACCESSION   NM_031448
VERSION     NM_031448.6
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 4348)
  AUTHORS   Chen,H.Y., Lin,H.I., Hsu,C.L., Chen,P.L., Huang,C.Y., Teng,S.C. and
            Lin,C.H.
  TITLE     A novel C19orf12 frameshift mutation in a MPAN pedigree impairs
            mitochondrial function and connectivity leading to
            neurodegeneration
  JOURNAL   Parkinsonism Relat Disord 109, 105353 (2023)
   PUBMED   36863113
  REMARK    GeneRIF: A novel C19orf12 frameshift mutation in a MPAN pedigree
            impairs mitochondrial function and connectivity leading to
            neurodegeneration.
REFERENCE   2  (bases 1 to 4348)
  AUTHORS   Chen,S., Lai,X., Fu,J., Yang,J., Zhao,B., Shang,H., Huang,R. and
            Chen,X.
  TITLE     A novel C19ORF12 mutation in two MPAN sisters treated with
            deferiprone
  JOURNAL   BMC Neurol 23 (1), 134 (2023)
   PUBMED   37004026
  REMARK    GeneRIF: A novel C19ORF12 mutation in two MPAN sisters treated with
            deferiprone.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4348)
  AUTHORS   Mercan,S., Ugur Iseri,S.A., Yigiter,R., Akcakaya,N.H., Saka,E. and
            Yapici,Z.
  TITLE     Two cases with mitochondrial membrane protein-associated
            neurodegeneration: genetic features and long-term clinical
            follow-up
  JOURNAL   Neurocase 28 (1), 37-41 (2022)
   PUBMED   35188090
  REMARK    GeneRIF: Two cases with mitochondrial membrane protein-associated
            neurodegeneration: genetic features and long-term clinical
            follow-up.
REFERENCE   4  (bases 1 to 4348)
  AUTHORS   Deschauer,M., Gaul,C., Behrmann,C., Prokisch,H., Zierz,S. and
            Haack,T.B.
  TITLE     C19orf12 mutations in neurodegeneration with brain iron
            accumulation mimicking juvenile amyotrophic lateral sclerosis
  JOURNAL   J Neurol 259 (11), 2434-2439 (2012)
   PUBMED   22584950
  REMARK    GeneRIF: Sequence analysis of C19orf12 revealed a novel mutation,
            p.Gly66del, in patients with neurodegeneration with brain iron
            accumulation mimicking juvenile amyotrophic lateral sclerosis.
REFERENCE   5  (bases 1 to 4348)
  AUTHORS   Hartig,M.B., Iuso,A., Haack,T., Kmiec,T., Jurkiewicz,E., Heim,K.,
            Roeber,S., Tarabin,V., Dusi,S., Krajewska-Walasek,M., Jozwiak,S.,
            Hempel,M., Winkelmann,J., Elstner,M., Oexle,K., Klopstock,T.,
            Mueller-Felber,W., Gasser,T., Trenkwalder,C., Tiranti,V.,
            Kretzschmar,H., Schmitz,G., Strom,T.M., Meitinger,T. and
            Prokisch,H.
  TITLE     Absence of an orphan mitochondrial protein, c19orf12, causes a
            distinct clinical subtype of neurodegeneration with brain iron
            accumulation
  JOURNAL   Am J Hum Genet 89 (4), 543-550 (2011)
   PUBMED   21981780
  REMARK    GeneRIF: orphan mitochondrial protein c19orf12 absence causes a
            distinct clinical subtype of neurodegeneration with brain iron
            accumulation
REFERENCE   6  (bases 1 to 4348)
  AUTHORS   Meilleur,K.G., Traore,M., Sangare,M., Britton,A., Landoure,G.,
            Coulibaly,S., Niare,B., Mochel,F., La Pean,A., Rafferty,I.,
            Watts,C., Shriner,D., Littleton-Kearney,M.T., Blackstone,C.,
            Singleton,A. and Fischbeck,K.H.
  TITLE     Hereditary spastic paraplegia and amyotrophy associated with a
            novel locus on chromosome 19
  JOURNAL   Neurogenetics 11 (3), 313-318 (2010)
   PUBMED   20039086
REFERENCE   7  (bases 1 to 4348)
  AUTHORS   Gregory,A., Klopstock,T., Kmiec,T., Hogarth,P. and Hayflick,S.J.
  TITLE     Mitochondrial Membrane Protein-Associated Neurodegeneration
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24575447
REFERENCE   8  (bases 1 to 4348)
  AUTHORS   Gregory,A. and Hayflick,S.
  TITLE     Neurodegeneration with Brain Iron Accumulation Disorders Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23447832
REFERENCE   9  (bases 1 to 4348)
  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   10 (bases 1 to 4348)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG722048.1, AC010513.6 and AC010644.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_031448.5.
            
            Summary: This gene encodes a small transmembrane protein. Mutations
            in this gene are a cause of neurodegeneration with brain iron
            accumulation-4 (NBIA4), but the specific function of the encoded
            protein is unknown. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene.
            [provided by RefSeq, Dec 2011].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR11853562.17551.1,
                                           SRR14038193.250116.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323670.14/ ENSP00000313332.9
            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
            1-387               BG722048.1         253-639
            388-2742            AC010513.6         33223-35577
            2743-4348           AC010644.7         35352-36957         c
FEATURES             Location/Qualifiers
     source          1..4348
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q12"
     gene            1..4348
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
                     /note="chromosome 19 open reading frame 12"
                     /db_xref="GeneID:83636"
                     /db_xref="HGNC:HGNC:25443"
                     /db_xref="MIM:614297"
     exon            1..137
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
                     /inference="alignment:Splign:2.1.0"
     exon            138..307
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
                     /inference="alignment:Splign:2.1.0"
     CDS             148..573
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protein C19orf12; neurodegeneration with brain iron
                     accumulation 3; membrane protein-associated
                     neurodegeneration"
                     /codon_start=1
                     /product="protein C19orf12 isoform 2"
                     /protein_id="NP_113636.2"
                     /db_xref="CCDS:CCDS12418.2"
                     /db_xref="GeneID:83636"
                     /db_xref="HGNC:HGNC:25443"
                     /db_xref="MIM:614297"
                     /translation="MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGL
                     VGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWT
                     DAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD"
     exon            308..4348
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2103..2108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
                     /note="hexamer: AATAAA"
     polyA_site      2126
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
                     /note="major polyA site"
     regulatory      3678..3683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
                     /note="hexamer: AATAAA"
     polyA_site      3709
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
     polyA_site      4248
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
     regulatory      4304..4309
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
                     /note="hexamer: ATTACA"
     polyA_site      4313
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
     polyA_site      4348
                     /gene="C19orf12"
                     /gene_synonym="MPAN; NBIA3; NBIA4; SPG43"
ORIGIN      
        1 agcgccgggg ccgccaccaa ggcctgcgcg accctccgcg gggctgggga gctgggcggg
       61 gagcccgggg cctgccaggc ccgggctgca gccgcgtctg atcgccgagc gcgccgcgta
      121 gacctccgct cccccaggcc cgccacgatg actatcatgg tggaggacat catgaagctg
      181 ctgtgctccc tttctgggga gaggaagatg aaggcggctg tcaagcactc tgggaagggt
      241 gccctggtca caggggccat ggccttcgtc gggggtttgg tgggcggccc accgggactc
      301 gccgttgggg gggctgtcgg ggggctgtta ggtgcctgga tgacaagtgg acagtttaag
      361 ccggttcctc agatcctaat ggagctgccc cctgccgagc aacagaggct ctttaacgaa
      421 gccgcagcca tcatcaggca cctggagtgg acggacgccg tgcagctgac cgcgctggtc
      481 atgggcagcg aggccctgca gcagcagctg ctggccatgc tggtgaacta cgtcaccaag
      541 gagctgcggg ccgagatcca gtatgatgac taggccgcac ctccggggag gtggggggcc
      601 cctttaaatg actctgtgat tctgaagagg tggcttggga gttgggagaa gcccagcgga
      661 tgccccctgg ggaatctcca catcatcagt gtattactag taatgtcccg ctggagaggc
      721 caccgctgtg cagtgtcatg ttccagaaat tactgatgaa gcagcatgtg ttggtggcat
      781 gtgcactggc ctgccatgac agccctctga ctggcccccc agtgaagagt aaaggcctgc
      841 ctgccgcagg cttcggaggc gtctgctgag tcctctcacc cgcatgggtc tggggaagtg
      901 atcacgctca gccgacggtc tgaccacact tcatcctccc cccggggcct tctcatcttg
      961 ggagatgact cctcttcaga gcacctgctg caggactgga tcccaccccc ctgcaggtcc
     1021 tggggtctca gggccttgga gcagcccatg ctggaatcat gtttacctcc tagtgcaacc
     1081 gtcccctacc cagggactgt cgaatggccc cacggagggg acgggcggcc tgctgagtga
     1141 agccacaaat accgagtgga cttgaccccg gcccccacta ggctgcacac ctagactcgc
     1201 cctgccaggg cctcgctctt cccatctgaa aagtcctggt agttcttgag gtttacttct
     1261 caaatgaaat atttttagta aaaagtacag gtatatctcg gagatattgt gggttcagtt
     1321 ccagaccacc tcggtaaagc caacatcaca ataaagcaag gaagcgcatt gttttagttt
     1381 cccagtgcat ctaagtcatg tttactgcat attgcagtcc actaaatgtg caatagcatt
     1441 atgtctaaca aatgtacaaa ccttaattta aaaatattta ctgttcaaaa tgctgacaca
     1501 gaaacgcaaa gtgagcacat gctgttggaa aatggtgcca aatagacttg cctgatgcca
     1561 ggctgctaca aaccttcaat ttaaaaaaaa aacacagtat tcacaaagca tagtagaatg
     1621 aggtatgcct gtattgctct ttctgaagtg gtgtgatata aaccatctct aagaaatgtt
     1681 tctaccctaa agatttcccc agtacagtca gctctccgta actgtggtct ccacatttag
     1741 atccaaccag ccttggatag gaaatatttg aaaaaagaaa ttgcattggt actgaacacg
     1801 tacagacctt tttttcttgc cattattccc taaacaatat ggtgtagcat atttacatag
     1861 catttatatt gtatttggta ttataagaaa tctagagatg atttaaatta tacaggaagg
     1921 tgtgcgtagg ttacgtgcaa acgctatgcc attgcccatc agggacttga gcatcctcag
     1981 atgtcggtgt ctgagggttg aggttgcagt cctggaaccc atcccccatg gatactgagg
     2041 catagctgta ctgtgtgttt tcactttgct ttcagaacta cgacttgaat gtgatcgatt
     2101 acaataaatg tttttctaaa aagccatttt cccacatatt atgtgtaaaa tatctctaat
     2161 attcaaagtc ttacaaatgg aacaagaggg aaggtaccag atttgtggct ttaaagaatg
     2221 caagagtagg tcaggtgagg tggctcatgc ttgtaatgtc ggcacttttg gaggccaaag
     2281 tgggaggatc gcttgaggcc aagagtttga aactagcctg ggcaatatag tgagacctcc
     2341 atctctacaa aaaatgttat tccttggtcc ccaggtcctg gggcagggca gggacttggg
     2401 gctctcctct caggccctgg aggctcggag ggaggcactt ctgctgaggc cctgcttata
     2461 ggaaagctca gtatcctggc acctccatgt gtgtaaggac gtcagggtga attataaccc
     2521 atggtgatta aggaagggcc gagcctttct cttgcagagc gattgctctt ctgctggcct
     2581 cgtctagcac aaatcaggtg ccctagcaca ggccacactc ctggagttaa tgaagccact
     2641 ttaatcattt atatgccact taagttgatg ggggacaggg caggggtggg aaggaggggt
     2701 tgtctgtctg tgaaaactga gtgtggcttt tcttgttgaa ctgatcattc ctgctcttcc
     2761 tgcaaataag tcctgcatac ggaccctgga actaaaaatg gaaaatcaga gcatgccccc
     2821 tcccaatttt gtatagcttt agtgggctct aaagttgccc gtttttagtg tgaaggaaaa
     2881 aacgttgatt tgcagatatc gtgagaatga aacctcaaca aagatgtttg gttcagtgct
     2941 tcaaagttgg gggacacttt ttccatgttg aacaaatgcc aacttctccg gttgcttaca
     3001 gcaaatcctt ctggaacaat cggggctgaa attgagttgc ctttgttagg cgattgggcc
     3061 ccattcattc ttactcgtgc atcaggtcct ggtctgtgtc aggcccaggg gacacaggtg
     3121 gtcccagctc agaggcccag tgtccactgc agcccctccc acagcctgcc cacccctact
     3181 gcagggaaaa atgcccaggg aggagatggt ccaactcctg atcagttttg tgtccgatgg
     3241 agcaggcctt gctgagtgaa gacactggaa ctagctgggt cctggggtga cttggaggct
     3301 ttgggcctaa aagggcagcc tgaacctgga gtcttatctc ccccaggagc cgaaagcact
     3361 tttcttgatt tcccccagga aatcaagcgc tgcttctcag ctcctgtggt tttagtattt
     3421 atatatctgt atcttctttg tagaaattta tttatttttg aataagtaat acctgcctgg
     3481 tacaaaattt aaaaggtacg ggagggcgca agctgcaagg gaaggcctgc tcctatgccg
     3541 accccagagg cagccactgt taccaatttc atgtgtattc ctttaactct gttttaaagt
     3601 aagtctctga aaactgttca tttccttttg tcagtatttg ttgctgaaaa cctagaaaaa
     3661 cccagaaaat ataatgaaat aaaaactaca aatttcacaa cccagaaaac tgctggtaac
     3721 agatttggtg tctttcctgc aattgtttta atgctatgta ggtacacata tatttttttc
     3781 tttttttctt tttttttttt ttgagatgga gtctcgcact gtcgcccggg ctggagtgca
     3841 gtagcgcgat cttggttcac tgcaagctct gcctcctggg ttcaagccat tctcctgcct
     3901 cagcctcccg agtagctttg actacagtcg cccgccacca tgcccggcta atttttattt
     3961 ttttattttt tttttatttt tagtagagac ggggtttcac catgttagcc aggatggtct
     4021 caatctcctt acctcgtgat ctgcccacct cagcctccca aagtgctggg attacaggcg
     4081 tgagccactg cgcccggcct atgtatgtat atttctaacg tacttgcctt cttatcctat
     4141 atgccccttt gaacacctgt atcaatgaat gttaaataat atttttgatg taatttaaaa
     4201 ttccttgtaa atatttgtaa tggctgcata atattccact gtgcctaacc atgtgcctgg
     4261 tgtgaattcc atttgtggat ttttactact gtaatgctga agtattacag taatactgtg
     4321 ttaatattct ctttattgaa ttctggta
//
