BCS1_HUMAN » Mitochondrial chaperone BCS1

BCS1_HUMAN » Mitochondrial chaperone BCS1
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Topology in Mitochondrial inner membrane
Topologyintermembrane space
mitochondrial matrix side
BCS1_HUMAN » Mitochondrial chaperone BCS1 » BCS1-like protein;H-BCS1;
Hydrophobic Thickness 28.0 ± 2.3 Å
Tilt Angle 6 ± 4°
ΔGtransfer -12.3 kcal/mol
ΔGfold -5.2 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, Reactome, HMDB
Topology Out
TM Segments 15-34 (14-34)
Pathways none
PDB none
OPM none
Complexes none
Interactions

LETM1, Complex: LETM1:BCS1, PubMed

UCRI, Complex: UCRI:BCS1

Domains

AA: 25-191, BCS1 N terminal

AA: 226-355, PDBID: 1IN4, Subunit A, Seq Identity:34%, ATPase family associated with various cellular activities (AAA)

UniProt annotation for BCS1_HUMAN » Mitochondrial chaperone BCS1
FUNCTION: Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex.

SUBUNIT: Interacts with LETM1.

TISSUE SPECIFICITY: Ubiquitous.

DISEASE: GRACILE syndrome (GRACILE) OMIM: 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. mutations affecting the gene represented in this entry.

DISEASE: Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) OMIM: 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. mutations affecting the gene represented in this entry.

DISEASE: Bjoernstad syndrome (BJS) OMIM: 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. mutations affecting the gene represented in this entry.

UniProt features for BCS1_HUMAN » Mitochondrial chaperone BCS1
CHAIN 1 419 Mitochondrial chaperone BCS1.
Amino Acid Sequence for BCS1_HUMAN » Mitochondrial chaperone BCS1
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