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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	617
Gene name Gene Name - the full gene name approved by the HGNC.	BCS1 ubiquinol-cytochrome c reductase complex chaperone
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BCS1L
Synonyms (NCBI Gene) Gene synonyms aliases	BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q35
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
GRACILE Syndrome	gracile syndrome	rs386833857, rs1553595997, rs1553596638, rs749196764, rs1057516802, rs386833858, rs1553596929, rs1057516346, rs121908578, rs760559534, rs1553597934, rs777735526, rs1057516518, rs377025174, rs550497120 View all (20 more)	N/A
leigh syndrome	Leigh syndrome	rs121908577, rs1057521059	N/A
Mental retardation	intellectual disability	rs369691608	N/A
Mitochondrial Complex Deficiency	Mitochondrial complex III deficiency nuclear type 1, Bjornstad syndrome with mild mitochondrial complex III deficiency	rs770749420, rs1057516255, rs121908578, rs28937590, rs749196764, rs121908575, rs377025174, rs121908579, rs121908576, rs121908580, rs121908571, rs144885874, rs776838028, rs747956412, rs121908572 View all (3 more)	N/A
Pili Torti-Deafness Syndrome	pili torti-deafness syndrome	rs1553596638, rs28937590, rs587777278, rs749196764, rs1057516346, rs121908578, rs760559534, rs121908575, rs369691608, rs777735526, rs377025174, rs550497120, rs751484879, rs121908577, rs776838028 View all (8 more)	N/A

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)