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 //