Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	617
Gene name	BCS1 ubiquinol-cytochrome c reductase complex chaperone
Gene symbol	BCS1L
Synonyms (NCBI Gene)	BCSBCS1BJSFLNMSGRACILEHs.6719MC3DN1PTDh-BCSh-BCS1
Chromosome	2
Chromosome location	2q35
Summary	This 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

Show/Hide all (32)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908571	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908573	G>A,C	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121908574	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908577	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908578	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs144885874	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs201454788	C>T	Likely-pathogenic, pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs368486097	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs375876694	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs386833858	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs550497120	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs587777278	T>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs760559534	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs776838028	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs779331797	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs863223915	AT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057516255	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516346	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1057516518	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516786	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516802	G>A	Likely-pathogenic	Splice donor variant
rs1057522861	C>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064796486	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1165110929	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1363475546	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1553596929	G>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553596996	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553597538	CT>-	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553597934	TAGG>-	Likely-pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs1553598145	T>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1575108381	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575108396	T>C	Likely-pathogenic	Splice donor variant

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048931	hsa-miR-92a-3p	CLASH	23622248
MIRT048239	hsa-miR-196a-5p	CLASH	23622248
MIRT046273	hsa-miR-23b-3p	CLASH	23622248
MIRT040868	hsa-miR-18a-3p	CLASH	23622248

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	18628306, 28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	9878253, 18628306
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0007005	Process	Mitochondrion organization	IMP	18628306
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0032979	Process	Protein insertion into mitochondrial inner membrane from matrix	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	18628306
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IMP	18628306
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IBA
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IEA
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IEA
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IMP	18628306
GO:0045275	Component	Respiratory chain complex III	TAS	9878253

MIM	HGNC	e!Ensembl
603647	1020	ENSG00000074582

Q9Y276

Protein name

Mitochondrial chaperone BCS1 (h-BCS1) (EC 3.6.1.-) (BCS1-like protein)

Protein 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,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08740	BCS1_N	25 → 191	BCS1 N terminal	Domain
PF00004	AAA	226 → 355	ATPase family associated with various cellular activities (AAA)	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9878253}.

Sequence

MPLSDFILALKDNPYFGAGFGLVGVGTALALARKGVQLGLVAFRRHYMITLEVPARDRSY
AWLLSWLTRHSTRTQHLSVETSYLQHESGRISTKFEFVPSPGNHFIWYRGKWIRVERSRE
MQMIDLQTGTPWESVTFTALGTDRKVFFNILEEARELALQQEEGKTVMYTAVGSEWRPFG
YPRRRRPLNSVVLQQGLADRIVRDVQEFIDNPKWYTDRGIPYRRGYLLYGPPGCGKSSFI
TALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQSLVLLEDVDAAFLSRDLAVENPVK
YQGLGRLTFSGLLNALDGVASTEARIVFMTTNHVDRLDPALIRPGRVDLKEYVGYCSHWQ
LTQMFQRFYPGQAPSLAENFAEHVLRATNQISPAQVQGYFMLYKNDPVGAIHNAESLRR

Sequence length

419

Interactions

View interactions

505

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
BCS1L-related disorder	Pathogenic; Likely pathogenic	rs28937590, rs121908576, rs121908578, rs1939677064	RCV004732532 RCV000260660 RCV004532300 RCV005636942
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY	Likely pathogenic; Pathogenic	rs121908578, rs121908579	RCV000006546 RCV000006548
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs754414954	RCV005911109
GRACILE syndrome	Likely pathogenic; Pathogenic	rs775388576, rs754414954, rs754934987, rs1280810181, rs2106324466, rs1559317208, rs778769841, rs1197613485, rs373105002, rs368486097, rs753115642, rs2469880171, rs2469889765, rs2469869076, rs2469879669 View all (49 more)	RCV002486327 RCV005408841 RCV005023143 RCV002499798 RCV001844327 RCV005023443 RCV005016948 RCV002492132 RCV003155444 RCV005016914 RCV002302512 RCV002309799 RCV002310019 RCV002310025 RCV002308208 RCV002308350 RCV002307197 RCV002310184 RCV000675122 RCV005025315 RCV000675151 RCV000665386 RCV000006542 RCV005025015 RCV000576565 RCV001835622 RCV001142702 RCV000674245 RCV003331768 RCV005030051 RCV005021990 RCV003988121 RCV005021991 RCV005023576 RCV000410534 RCV000409388 RCV000409243 RCV000409791 RCV000409533 RCV000410319 RCV000410918 RCV000411192 RCV000412303 RCV000411872 RCV002502446 RCV004798833 RCV000670398 RCV000674598 RCV000671907 RCV000670083 RCV000673227 RCV000674599 RCV000670440 RCV000665667 RCV000674449 RCV000673264 RCV000665738 RCV001825516 RCV002501070 RCV000049825 RCV000049826 RCV000049827 RCV000987030 RCV002482133 RCV005014297
Intellectual disability	Likely pathogenic; Pathogenic	rs369691608	RCV000850204
Leigh syndrome	Pathogenic; Likely pathogenic	rs121908576, rs121908577, rs1057521059	RCV000763069 RCV000779835 RCV001329213
Microcephaly	Likely pathogenic; Pathogenic	rs369691608	RCV001003574
Mitochondrial complex III deficiency nuclear type 1	Likely pathogenic; Pathogenic	rs775388576, rs754934987, rs1280810181, rs2106324466, rs1459378570, rs1559317208, rs778769841, rs1197613485, rs368486097, rs1057516802, rs2469880171, rs2469889765, rs2469869076, rs2469879669, rs140405116 View all (34 more)	RCV002486327 RCV005023143 RCV002499798 RCV004813180 RCV001837431 RCV005023443 RCV005016948 RCV002492132 RCV005016914 RCV002249295 RCV002309799 RCV002310019 RCV002310025 RCV002308208 RCV002308350 RCV002307197 RCV002310184 RCV000415034 RCV000671152 RCV005025315 RCV005016551 RCV000006538 RCV000006539 RCV000006540 RCV000983982 RCV000006543 RCV000006544 RCV002243624 RCV000034811 RCV000006549 RCV000006550 RCV005030051 RCV005021990 RCV005030053 RCV005021991 RCV003990401 RCV005023576 RCV001334242 RCV004567874 RCV002502421 RCV000415338 RCV002285017 RCV005027806 RCV005019138 RCV005019155 RCV005019105 RCV005021161 RCV002501070 RCV002482133 RCV005014297
Movement disorder	Likely pathogenic; Pathogenic	rs369691608	RCV001003574
Neonatal encephalopathy	Likely pathogenic	rs2469871803	RCV003154308
Pili torti-deafness syndrome	Likely pathogenic; Pathogenic	rs775388576, rs754414954, rs754934987, rs774688562, rs1280810181, rs587777278, rs1559317208, rs778769841, rs1197613485, rs373105002, rs368486097, rs1939635954, rs2469880171, rs2469889765, rs2469869076 View all (50 more)	RCV002486327 RCV004570802 RCV004570953 RCV003473973 RCV002499798 RCV000114392 RCV003475165 RCV002300634 RCV003475238 RCV003475210 RCV005016914 RCV003475114 RCV002309799 RCV002310019 RCV002310025 RCV002308208 RCV002308350 RCV002307197 RCV002310184 RCV003475513 RCV001810436 RCV005025315 RCV000586158 RCV003472985 RCV002476936 RCV003472988 RCV000763069 RCV000006545 RCV005016250 RCV005025016 RCV003475536 RCV003474338 RCV003474340 RCV003474341 RCV003474342 RCV003474343 RCV003474344 RCV003474345 RCV003474346 RCV003474347 RCV003474348 RCV003474349 RCV003474350 RCV003474351 RCV003474352 RCV003474353 RCV004575408 RCV004575409 RCV003475959 RCV003475945 RCV003475966 RCV002502421 RCV002502446 RCV003472142 RCV004568535 RCV005019138 RCV004568552 RCV005019105 RCV003472287 RCV005021161 RCV002501070 RCV003474632 RCV002482133 RCV003473826 RCV005014297
Severe intellectual disability	Likely pathogenic; Pathogenic	rs369691608	RCV001003574
Sparse hair	Likely pathogenic; Pathogenic	rs369691608	RCV001003574

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colorectal cancer	Conflicting classifications of pathogenicity	rs149382836	RCV005926374
Decreased activity of mitochondrial complex III	Uncertain significance	rs773582375, rs1939447293	RCV001089493 RCV001089494
Neuromuscular disease	Conflicting classifications of pathogenicity	rs1064796486	RCV004801921
See cases	Uncertain significance	rs745428773	RCV002253142
Seizure	Uncertain significance	rs1193854555	RCV000626741
Severe global developmental delay	Uncertain significance	rs1193854555	RCV000626741

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis	Associate	26563427
Acidosis Lactic	Associate	26563427, 31435670, 35305621, 40332224
Acidosis Renal Tubular	Associate	40332224
alpha Thalassemia	Associate	27077764, 28395746, 36700476, 6725554
Amyotrophic Lateral Sclerosis	Associate	37639066
Anemia	Stimulate	28395746
Anorchia	Associate	35305621
Bjornstad syndrome	Associate	17314340, 20518024, 31435670, 33126389, 40332224
Cardiomyopathies	Associate	38291374
Cardiomyopathy Hypertrophic	Associate	37001142
Cholestasis	Associate	31435670, 40332224
Deafness	Associate	26563427
Death	Associate	31435670, 34662929
Developmental Disabilities	Associate	40332224
Disease	Associate	17018682, 6725554
External Auditory Canal Bilateral Atresia Of With Congenital Vertical Talus	Associate	35305621
Failure to Thrive	Associate	35305621
Fanconi Syndrome	Associate	26563427
Fatigue	Associate	24786901
Finnish lethal neonatal metabolic syndrome	Associate	17314340, 20518024, 24655110, 26563427, 31435670
Growth Deficiency and Mental Retardation with Facial Dysmorphism	Associate	26563427
Growth Disorders	Associate	26563427, 31435670
Hearing Loss	Associate	31435670
Hearing Loss Conductive	Associate	35305621
Hearing Loss Sensorineural	Associate	17314340, 26563427, 31435670, 40332224
Immunoglobulin G4 Related Disease	Associate	34662929
Iron Overload	Associate	31435670
Jaundice	Associate	28395746
Learning Disabilities	Associate	31435670
Leukemia Myeloid Acute	Associate	18566324, 27389053, 30431598, 34384895
Liver Failure	Associate	26563427
Microcephaly	Associate	26563427
Mitochondrial Complex III Deficiency	Associate	17314340, 20518024, 25239759, 26563427, 33126389, 35305621, 40332224
Mitochondrial Diseases	Associate	17314340, 20518024, 31435670, 34662929, 37001142, 40332224
Movement Disorders	Associate	34662929
Multiple Organ Failure	Associate	17314340
Myopathy with Giant Abnormal Mitochondria	Associate	38291374
Neoplasms	Associate	34380980
Pili Torti	Associate	17314340, 40332224
Prostatic Neoplasms	Associate	34380980
Psychomotor Disorders	Associate	33126389
Renal Aminoacidurias	Associate	31435670
Retrognathia	Associate	35305621
Rufous oculocutaneous albinism	Associate	17314340
Seizures	Associate	31435670, 34662929
SeSAME syndrome	Associate	26563427
Spasm	Associate	33126389
Splenomegaly	Stimulate	28395746
Testicular Neoplasms	Associate	35305621

BCS1L (BCS1 ubiquinol-cytochrome c reductase complex chaperone)