BCS1L - BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone Gene

Also Known as BCS; BJS; PTD; BCS1; FLNMS; h-BCS; MC3DN1; h-BCS1; GRACILE; Hs.6719

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 617

About BCS1L

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:218,658,743-218,663,443 (from NCBI)

This gene has 21 transcripts (splice variants), 196 orthologues and is associated with 8 phenotypes. Ubiquitous expression in skin (RPKM 9.0), ovary (RPKM 7.2) and 25 other tissues.

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 that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]

BCS1L Products (22)

mRNA	Protein	Name
NM_001079866.2	NP_001073335.1	mitochondrial chaperone BCS1 isoform a
NM_001257342.2	NP_001244271.1	mitochondrial chaperone BCS1 isoform a
NM_001257343.2	NP_001244272.1	mitochondrial chaperone BCS1 isoform a
NM_001257344.2	NP_001244273.1	mitochondrial chaperone BCS1 isoform a
NM_001318836.2	NP_001305765.1	mitochondrial chaperone BCS1 isoform b
NM_001320717.2	NP_001307646.1	mitochondrial chaperone BCS1 isoform a
NM_001371443.1	NP_001358372.1	mitochondrial chaperone BCS1 isoform a
NM_001371444.1	NP_001358373.1	mitochondrial chaperone BCS1 isoform a
NM_001371446.1	NP_001358375.1	mitochondrial chaperone BCS1 isoform a
NM_001371447.1	NP_001358376.1	mitochondrial chaperone BCS1 isoform a
NM_001371448.1	NP_001358377.1	mitochondrial chaperone BCS1 isoform a
NM_001371449.1	NP_001358378.1	mitochondrial chaperone BCS1 isoform a
NM_001371450.1	NP_001358379.1	mitochondrial chaperone BCS1 isoform a
NM_001371451.1	NP_001358380.1	mitochondrial chaperone BCS1 isoform b
NM_001371452.1	NP_001358381.1	mitochondrial chaperone BCS1 isoform c
NM_001371453.1	NP_001358382.1	mitochondrial chaperone BCS1 isoform c
NM_001371454.1	NP_001358383.1	mitochondrial chaperone BCS1 isoform c
NM_001371455.1	NP_001358384.1	mitochondrial chaperone BCS1 isoform c
NM_001371456.1	NP_001358385.1	mitochondrial chaperone BCS1 isoform c
NM_001374085.1	NP_001361014.1	mitochondrial chaperone BCS1 isoform a
NM_001374086.1	NP_001361015.1	mitochondrial chaperone BCS1 isoform c
NM_004328.5	NP_004319.1	mitochondrial chaperone BCS1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18628306	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial cytochrome c oxidase assembly	IMP IMP: Inferred from mutant phenotype	18628306	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	18628306	GOA
involved in mitochondrial respiratory chain complex III assembly	IMP IMP: Inferred from mutant phenotype	18628306	GOA
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	18628306	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	9878253	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCS1L Protein Structure

BCS1_N

AAA

0
100
200
300
400
419 a.a.

Protein Preferred Names	Protein Names
mitochondrial chaperone BCS1	BC1 (ubiquinol-cytochrome c reductase) synthesis-like

Related Diseases

Diseases	Alias
Gracile Syndrome	Finnish Lethal Neonatal Metabolic Syndrome Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death Flnms Fellman Syndrome Fellman Disease Finnish Lactic Acidosis With Hepatic Hemosiderosis Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Lactic Acidosis, Finnish, With Hepatic Hemosiderosis Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death GRACILE
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	MC1DN3 Mitochondrial Complex Iii Deficiency Nuclear Type 1 MC3DN1 Mitochondrial Complex I Deficiency, Nuclear Type 3 Mitochondrial Complex 1 Deficiency, Nuclear Type 3 Nuclear Type Mitochondrial Complex I Deficiency 3 Renal Tubulopathy-Encephalopathy-Liver Failure Syndrome Mitochondrial Complex Iii Deficiency, Nuclear 1 Complex 3 Mitochondrial Respiratory Chain Deficiency Complex Iii Mitochondrial Respiratory Chain Deficiency Mitochondrial Complex Iii Deficiency, Nuclear, Type 1 ]
Bjornstad Syndrome	BJS Pili Torti And Nerve Deafness Ptd Pili Torti-Deafness Syndrome Deafness-Pili Torti-Hypogonadism Syndrome Deafness And Pili Torti, Bjornstad Type Pili Torti-Sensorineural Hearing Loss Björnstad Syndrome Ptnd Hearing Loss-Pili Torti-Hypogonadism Syndrome Bjoernstad Syndrome
Mitochondrial Complex Iii Deficiency	Complex 3 Mitochondrial Respiratory Chain Deficiency Isolated Coq-Cytochrome C Reductase Deficiency Ubiquinone-Cytochrome C Oxidoreductase Deficiency
Movement Disease	Movement Disorders Movement Disorder
Isolated Complex Iii Deficiency	Isolated Coq-Cytochrome C Reductase Deficiency Isolated Coenzyme Q-Cytochrome C Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency Isolated Ubiquinone-Cytochrome C Reductase Deficiency
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Linear Skin Defects With Multiple Congenital Anomalies 2	LSDMCA2 Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism, And Other Congenital Anomalies Aplcc Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism And Other Congenital Anomalies
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Leigh Syndrome, French Canadian Type Mitochondrial Complex V Deficiency Nuclear Type 4 Cytochrome C Oxidase Deficiency, French Canadian Type Lsfc Cox Deficiency, French Canadian Type MC5DN4 MC4DN5 Cox Deficiency, Saguenay-Lac-Saint-Jean Type Leigh Syndrome, Saguenay-Lac-Saint-Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 French Canadian Leigh Disease Leigh Syndrome, French-Canadian Type Leigh Syndrome , French Canadian Type Mitochondrial Complex V Deficiency, Atp5a1 Type French Canadian Type Cox Deficiency French Canadian Type Cytochrome C Oxidase Deficiency French Canadian Type Leigh Syndrome Saguenay Lac Saint Jean Type Cox Deficiency Saguenay Lac Saint Jean Type Leigh Syndrome Cox Deficiency, Saguenay Lac Saint Jean Type Leigh Syndrome, Saguenay Lac Saint Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 Mitochondrial Complex V Deficiency Atp5a1 Type Mitochondrial Complex V Deficiency Type 4 Mitochondrial Complex V Deficiency, Nuclear, Type 4
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Aminoaciduria
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Mitochondrial Metabolism Disease	Abnormality Of Mitochondrial Metabolism Mitochondrial Diseases
Mitochondrial Dna Depletion Syndrome 6	Navajo Neurohepatopathy Navajo Neuropathy MTDPS6 Nnh Nn Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome Navajo Familial Neurogenic Arthropathy Mpv17-Associated Hepatocerebral Mds Mitochondrial Dna Depletion 6 Hepatocerebral Type Mitochondrial Dna Depletion Syndrome , Type 6
Hypotrichosis
Mitochondrial Dna Depletion Syndrome 3	Deoxyguanosine Kinase Deficiency Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form MTDPS3 Dguok Deficiency Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Dguok-Related Mitochondrial Dna Depletion Syndrome Hepatocerebral Mitochondrial Dna Depletion Syndrome Mtdna Depletion Syndrome, Hepatocerebral Form Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type Mitochondrial Dna Depletion Syndrome , Type 3
Charcot-Marie-Tooth Disease X-Linked Recessive 4	Cmt4x Cmtx4 Cowchock Syndrome X-Linked Charcot-Marie-Tooth Disease Type 4 Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Nadmr Namsd
Pearson Marrow-Pancreas Syndrome	Pearson Syndrome Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction Pearson'S Marrow/Pancreas Syndrome Pearson'S Syndrome Pearson'S Marrow-Pancreas Syndrome
Combined Oxidative Phosphorylation Deficiency 6	Severe X-Linked Mitochondrial Encephalomyopathy COXPD6 Mitochondrial Encephalomyopathy Due To Combined Oxidative Phosphorylation Defect 6 Mitochondrial Encephalomyopathy Due To Coxpd6 Encephalomyopathy, Mitochondrial, X-Linked Encephalomyopathy Mitochondrial X-Linked Oxidative Phosphorylation Deficiency, Combined, Type 6
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate Decarboxylase Deficiency Pdh Deficiency PDHAD Pyruvate Dehydrogenase Complex Deficiency Disease Ataxia With Lactic Acidosis I Ataxia With Lactic Acidosis 1 Pdh Pdhc Ataxia With Lactic Acidosis Ataxia, Intermittent, With Abnormal Pyruvate Metabolism Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency Deficiency Of Pyruvic Dehydrogenase Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency Pdc Deficiency Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency Pdhc Deficiency Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency Ataxia Intermittent With Abnormal Pyruvate Metabolism Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency Pyruvate Dehydrogenase E1 Alpha Deficiency Pdc - [Pyruvate Dehydrogenase Complex] Deficiency Ataxia With Lactic Acidosis 2
Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency Cox Deficiency Cytochrome-C Oxidase Deficiency Disease MC1DN4 Cytochrome-C Oxidase Deficiency MC4DN1 Mitochondrial Complex I Deficiency, Nuclear Type 4 Complex 4 Mitochondrial Respiratory Chain Deficiency Complex Iv Deficiency Mitochondrial Complex 1 Deficiency, Nuclear Type 4 Nuclear Type Mitochondrial Complex I Deficiency 4 Deficiency Of Mitochondrial Respiratory Chain Complex4 MT-C4D Complex Iv Mitochondrial Respiratory Chain Deficiency Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01451	BCS1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	BCS1L	VGNC	VGNC:38421
Bos taurus	BCS1L	VGNC	VGNC:26456
Mus musculus	BCS1L	MGD	MGI:1914071
Rattus norvegicus	BCS1L	RGD	RGD:1359658
Felis catus	BCS1L	VGNC	VGNC:60095
Macaca mulatta	BCS1L	VGNC	VGNC:84211
Others	BCS1L	NCBI