LOCUS       EF672347                 230 bp    mRNA    linear   HUM 26-JUL-2016
DEFINITION  Homo sapiens mitochondrial chaperone BCS1L (BCS1L) mRNA, partial
            cds, alternatively spliced; nuclear gene for mitochondrial product.
ACCESSION   EF672347
VERSION     EF672347.1
KEYWORDS    .
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 230)
  AUTHORS   Gil-Borlado,M.C., Gonzalez-Hoyuela,M., Blazquez,A.,
            Garcia-Silva,M.T., Gabaldon,T., Manzanares,J., Vara,J.,
            Martin,M.A., Seneca,S., Arenas,J. and Ugalde,C.
  TITLE     Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in
            mitochondrial complex III deficiency
  JOURNAL   Mitochondrion 9 (5), 299-305 (2009)
   PUBMED   19389488
REFERENCE   2  (bases 1 to 230)
  AUTHORS   Gil Borlado,M., Gonzalez Hoyuela,M. and Ugalde,C.
  TITLE     Direct Submission
  JOURNAL   Submitted (12-JUN-2007) Centro de Investigacion, Hospital
            Universitario 12 de Octubre, Avda. Cordoba s/n, Madrid 28041, Spain
FEATURES             Location/Qualifiers
     source          1..230
                     /db_xref="H-InvDB:HIT000469815"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33"
                     /cell_type="fibroblasts"
                     /PCR_primers="fwd_seq: ggcggatcttattgtctacg, rev_seq:
                     agtagggattgtccttcagag"
     gene            1..>230
                     /gene="BCS1L"
     5'UTR           <1..184
                     /gene="BCS1L"
     CDS             185..>230
                     /gene="BCS1L"
                     /note="BCS1-like protein; mitochondrial complex III
                     deficiency; Bjornstad syndrome (pili torti and deafness);
                     GRACILE syndrome; alternatively spliced"
                     /codon_start=1
                     /product="mitochondrial chaperone BCS1L"
                     /protein_id="ABV24964.1"
                     /translation="MPLSDFILALKDNPY"
BASE COUNT           58 a           45 c           68 g           59 t
ORIGIN      
        1 ggcggatctt attgtctacg atgtgacgat ccgtggagaa agtagcagat gggcagattt
       61 tcatttgggg agaatgaggg agaaaagaac gggcattccg aggccaagag cactgcatga
      121 gcaaggagtt gggaggtttt cgtaacaccc cagggcctgt aaggtttggt gtttcccttt
      181 caagatgcca ctttcagact ttattctggc tctgaaggac aatccctact
//