Details for: BCS1L
Associated with
Other Information
Genular Protein ID: 3336524564
Symbol: BCS1_HUMAN
Name: Mitochondrial chaperone BCS1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9878253
Title: Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
PubMed ID: 9878253
PubMed ID: 11528392
Title: A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
PubMed ID: 11528392
DOI: 10.1038/ng706
PubMed ID: 12215968
Title: GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
PubMed ID: 12215968
DOI: 10.1086/342773
PubMed ID: 9110174
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 18628306
Title: Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.
PubMed ID: 18628306
DOI: 10.1242/jcs.026625
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 12910490
Title: Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
PubMed ID: 12910490
DOI: 10.1002/ajmg.a.20171
PubMed ID: 17403714
Title: Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
PubMed ID: 17403714
DOI: 10.1093/hmg/ddm072
PubMed ID: 17314340
Title: Missense mutations in the BCS1L gene as a cause of the Bjoernstad syndrome.
PubMed ID: 17314340
DOI: 10.1056/nejmoa055262
PubMed ID: 19162478
Title: Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
PubMed ID: 19162478
PubMed ID: 24172246
Title: Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
PubMed ID: 24172246
DOI: 10.1038/jhg.2013.101
PubMed ID: 22991165
Title: Clinical and biochemical features associated with BCS1L mutation.
PubMed ID: 22991165
Sequence Information:
- Length: 419
- Mass: 47534
- Checksum: 7F0F98BA62F2CBB8
- Sequence:
MPLSDFILAL KDNPYFGAGF GLVGVGTALA LARKGVQLGL VAFRRHYMIT LEVPARDRSY AWLLSWLTRH STRTQHLSVE TSYLQHESGR ISTKFEFVPS PGNHFIWYRG KWIRVERSRE MQMIDLQTGT PWESVTFTAL GTDRKVFFNI LEEARELALQ QEEGKTVMYT AVGSEWRPFG YPRRRRPLNS VVLQQGLADR IVRDVQEFID NPKWYTDRGI PYRRGYLLYG PPGCGKSSFI TALAGELEHS ICLLSLTDSS LSDDRLNHLL SVAPQQSLVL LEDVDAAFLS RDLAVENPVK YQGLGRLTFS GLLNALDGVA STEARIVFMT TNHVDRLDPA LIRPGRVDLK EYVGYCSHWQ LTQMFQRFYP GQAPSLAENF AEHVLRATNQ ISPAQVQGYF MLYKNDPVGA IHNAESLRR
Genular Protein ID: 2908627592
Symbol: A8JZZ8_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 419
- Mass: 47550
- Checksum: 2E4BD69C0EF9EBFF
- Sequence:
MPLSDFILAL KDNPYFGAGF GLVGVGTALA LARKGVQLGL VAFRRHYMIT LEVPARDRSY AWLLSWLTRH STRTQHLSVE TSYLQHESGR ISTKFEFVPS LGNHFIWYRG KWIRVERSRE MQMIDLQTGT PWESVTFTAL GTDRKVFFNI LEEARELALQ QEEGKTVMYT AVGSEWRPFG YPRRRRPLNS VVLQQGLADR IVRDVQEFID NPKWYTDRGI PYRRGYLLYG PPGCGKSSFI TALAGELEHS ICLLSLTDSS LSDDRLNHLL SVAPQQSLVL LEDVDAAFLS RDLAVENPVK YQGLGRLTFS GLLNALDGVA STEARIVFMT TNHVDRLDPA LIRPGRVDLK EYVGYCSHWQ LTQMFQRFYP GQAPSLAENF AEHVLRATNQ ISPAQVQGYF MLYKNDPVGA IHNAESLRR
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.