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MT000080

Record overview

MITO IDMT000080
Gene ID617
SpeciesHomo sapiens (Human)
Gene NameBC1 (ubiquinol-cytochrome c reductase) synthesis-like
Gene SymbolBCS1L
SynonymsBCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; GRACILE; Hs.6719;
Alternate namesmitochondrial chaperone BCS1; h-BCS1; BCS1-like protein; mitochondrial complex III assembly;
Chromosome2
Map Location2q33
SummaryThis gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012]
OrthologsView orthologs and multiple alignments for BCS1L

Proteins

mitochondrial chaperone BCS1
Refseq ID:NP_001073335
Protein GI:119964730
UniProt ID:Q9Y276
mRNA ID:NM_001079866
Length:419
RefSeq Status:
MPLSDFILALKDNPYFGAGFGLVGVGTALALARKGVQLGLVAFRRHYMITLEVPARDRSYAWLLSWLTRHSTRTQHLSVETSYLQHESGRISTKFEFVPS
PGNHFIWYRGKWIRVERSREMQMIDLQTGTPWESVTFTALGTDRKVFFNILEEARELALQQEEGKTVMYTAVGSEWRPFGYPRRRRPLNSVVLQQGLADR
IVRDVQEFIDNPKWYTDRGIPYRRGYLLYGPPGCGKSSFITALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQSLVLLEDVDAAFLSRDLAVENPVK
YQGLGRLTFSGLLNALDGVASTEARIVFMTTNHVDRLDPALIRPGRVDLKEYVGYCSHWQLTQMFQRFYPGQAPSLAENFAEHVLRATNQISPAQVQGYF
MLYKNDPVGAIHNAESLRR
 
mitochondrial chaperone BCS1
Refseq ID:NP_004319
Protein GI:4757852
UniProt ID:Q9Y276
mRNA ID:NM_004328
Length:419
RefSeq Status:
Protein sequence is identical to GI:119964730 (mRNA isoform)
 
mitochondrial chaperone BCS1
Refseq ID:NP_001244273
Protein GI:383087736
UniProt ID:Q9Y276
mRNA ID:NM_001257344
Length:419
RefSeq Status:
Protein sequence is identical to GI:119964730 (mRNA isoform)
 
mitochondrial chaperone BCS1
Refseq ID:NP_001244272
Protein GI:383087732
UniProt ID:Q9Y276
mRNA ID:NM_001257343
Length:419
RefSeq Status:
Protein sequence is identical to GI:119964730 (mRNA isoform)
 
mitochondrial chaperone BCS1
Refseq ID:NP_001244271
Protein GI:383087730
UniProt ID:Q9Y276
mRNA ID:NM_001257342
Length:419
RefSeq Status:
Protein sequence is identical to GI:119964730 (mRNA isoform)