BCS1L
entrez
617
canonical
uniprot
Q9Y276
canonical
ensembl
ENSG00000074582
resolver
ensp
ENSP00000352219
resolver
ensp
ENSP00000375957
resolver
ensp
ENSP00000375958
resolver
ensp
ENSP00000375959
resolver
ensp
ENSP00000404999
resolver
ensp
ENSP00000406494
resolver
ensp
ENSP00000413908
resolver
ensp
ENSP00000577134
resolver
ensp
ENSP00000577135
resolver
ensp
ENSP00000577137
resolver
ensp
ENSP00000577138
resolver
ensp
ENSP00000577139
resolver
ensp
ENSP00000577140
resolver
ensp
ENSP00000577141
resolver
ensp
ENSP00000577142
resolver
ensp
ENSP00000577143
resolver
ensp
ENSP00000577144
resolver
ensp
ENSP00000577145
resolver
ensp
ENSP00000577146
resolver
ensp
ENSP00000577147
resolver
ensp
ENSP00000577148
resolver
ensp
ENSP00000577149
resolver
ensp
ENSP00000577150
resolver
ensp
ENSP00000577151
resolver
ensp
ENSP00000577152
resolver
ensp
ENSP00000577153
resolver
ensp
ENSP00000601870
resolver
ensp
ENSP00000601871
resolver
ensp
ENSP00000601872
resolver
ensp
ENSP00000601873
resolver
ensp
ENSP00000601876
resolver
ensp
ENSP00000601877
resolver
ensp
ENSP00000601878
resolver
ensp
ENSP00000601879
resolver
ensp
ENSP00000601880
resolver
ensp
ENSP00000601881
resolver
ensp
ENSP00000601882
resolver
ensp
ENSP00000601883
resolver
ensp
ENSP00000601884
resolver
ensp
ENSP00000601885
resolver
ensp
ENSP00000601886
resolver
ensp
ENSP00000615825
resolver
ensp
ENSP00000615826
resolver
ensp
ENSP00000615828
resolver
enst
ENST00000359273
resolver
enst
ENST00000392109
resolver
enst
ENST00000392110
resolver
enst
ENST00000392111
resolver
enst
ENST00000412366
resolver
enst
ENST00000431802
resolver
enst
ENST00000439945
resolver
enst
ENST00000907075
resolver
enst
ENST00000907076
resolver
enst
ENST00000907078
resolver
enst
ENST00000907079
resolver
enst
ENST00000907080
resolver
enst
ENST00000907081
resolver
enst
ENST00000907082
resolver
enst
ENST00000907083
resolver
enst
ENST00000907084
resolver
enst
ENST00000907085
resolver
enst
ENST00000907086
resolver
enst
ENST00000907087
resolver
enst
ENST00000907088
resolver
enst
ENST00000907089
resolver
enst
ENST00000907090
resolver
enst
ENST00000907091
resolver
enst
ENST00000907092
resolver
enst
ENST00000907093
resolver
enst
ENST00000907094
resolver
enst
ENST00000931811
resolver
enst
ENST00000931812
resolver
enst
ENST00000931813
resolver
enst
ENST00000931814
resolver
enst
ENST00000931817
resolver
enst
ENST00000931818
resolver
enst
ENST00000931819
resolver
enst
ENST00000931820
resolver
enst
ENST00000931821
resolver
enst
ENST00000931822
resolver
enst
ENST00000931823
resolver
enst
ENST00000931824
resolver
enst
ENST00000931825
resolver
enst
ENST00000931826
resolver
enst
ENST00000931827
resolver
enst
ENST00000945766
resolver
enst
ENST00000945767
resolver
enst
ENST00000945769
resolver
genesymbol
BCS1L
resolver
genesymbol_syn
BCS1
resolver
hgnc
HGNC:1020
resolver
uniprot
A0A024R445
resolver
uniprot
A0A024R467
resolver
uniprot
A8JZZ8
resolver
uniprot
B3KTW9
resolver
uniprot
Q7Z2V7
resolver
uniprot_entry
A0A024R445_HUMAN
resolver
uniprot_entry
A8JZZ8_HUMAN
resolver
uniprot_entry
BCS1_HUMAN
resolver
uniprot_sec
A0A024R467
resolver
uniprot_sec
B3KTW9
resolver
uniprot_sec
Q7Z2V7
resolver
amino_acid_sequence
MPLSDFILALKDNPYFGAGFGLVGVGTALALARKGVQLGLVAFRRHYMITLEVPARDRSYAWLLSWLTRHSTRTQHLSVETSYLQHESGRISTKFEFVPSPGNHFIWYRGKWIRVERSREMQMIDLQTGTPWESVTFTALGTDRKVFFNILEEARELALQQEEGKTVMYTAVGSEWRPFGYPRRRRPLNSVVLQQGLADRIVRDVQEFIDNPKWYTDRGIPYRRGYLLYGPPGCGKSSFITALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQSLVLLEDVDAAFLSRDLAVENPVKYQGLGRLTFSGLLNALDGVASTEARIVFMTTNHVDRLDPALIRPGRVDLKEYVGYCSHWQLTQMFQRFYPGQAPSLAENFAEHVLRATNQISPAQVQGYFMLYKNDPVGAIHNAESLRR
uniprot
proteins
disease_involvement
DISEASE: GRACILE syndrome (GRACILE) [MIM:603358]: GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. {ECO:0000269|PubMed:12215968, ECO:0000269|PubMed:17314340}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) [MIM:124000]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269|PubMed:11528392, ECO:0000269|PubMed:12910490, ECO:0000269|PubMed:17314340, ECO:0000269|PubMed:17403714, ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:19162478, ECO:0000269|PubMed:22991165, ECO:0000269|PubMed:38423010}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bjoernstad syndrome (BJS) [MIM:262000]: An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle. {ECO:0000269|PubMed:17314340, ECO:0000269|PubMed:24172246}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.1.-
uniprot
proteins
function
FUNCTION: Chaperone necessary for the incorporation of Rieske iron-sulfur protein UQCRFS1 into the mitochondrial respiratory chain complex III (PubMed:11528392, PubMed:9878253). Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex (PubMed:18628306). {ECO:0000269|PubMed:11528392, ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:9878253}.
uniprot
proteins
mass_dalton
47534
uniprot
proteins
protein_family
AAA ATPase family
uniprot
proteins
protein_family
BCS1 subfamily
uniprot
proteins
pubmed
11528392
uniprot
proteins
pubmed
12215968
uniprot
proteins
pubmed
12910490
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17314340
uniprot
proteins
pubmed
17403714
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18628306
uniprot
proteins
pubmed
19162478
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22991165
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24172246
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
38423010
uniprot
proteins
pubmed
9110174
uniprot
proteins
pubmed
9878253
uniprot
proteins
sequence_length
419
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:9878253}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 16..32; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins