BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone)

2003-02-01  

Identity

HGNC
BCS1L
LOCATION
2q35
LOCUSID
617
ALIAS
BCS,BCS1,BJS,FLNMS,GRACILE,Hs.6719,MC3DN1,PTD,h-BCS,h-BCS1

Other Information

Locus ID:

NCBI: 617
MIM: 603647
HGNC: 1020
Ensembl: ENSG00000074582

Variants:

dbSNP: 617
ClinVar: 617
TCGA: ENSG00000074582
COSMIC: BCS1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000074582ENST00000359273Q9Y276
ENSG00000074582ENST00000359273A0A024R467
ENSG00000074582ENST00000392109Q9Y276
ENSG00000074582ENST00000392109A0A024R467
ENSG00000074582ENST00000392110Q9Y276
ENSG00000074582ENST00000392110A0A024R467
ENSG00000074582ENST00000392111Q9Y276
ENSG00000074582ENST00000392111A0A024R467
ENSG00000074582ENST00000412366Q9Y276
ENSG00000074582ENST00000412366A0A024R467
ENSG00000074582ENST00000423377C9JAS4
ENSG00000074582ENST00000426649H7C492
ENSG00000074582ENST00000428880C9J4Q9
ENSG00000074582ENST00000430322C9J8G3
ENSG00000074582ENST00000431802Q9Y276
ENSG00000074582ENST00000431802A0A024R467
ENSG00000074582ENST00000436603H7BZF6
ENSG00000074582ENST00000439945Q9Y276
ENSG00000074582ENST00000439945A0A024R467
ENSG00000074582ENST00000443791C9J1S9
ENSG00000074582ENST00000456050C9J8G3
ENSG00000074582ENST00000643945A0A2R8Y7T3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
122159682002GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.40
174037142007Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.39
186283062008Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.35
205180242010Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
191624782009Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.7
229911652013Clinical and biochemical features associated with BCS1L mutation.7
193894882009Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.6
195084212009Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.6
183861152008Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause.4

Citation

Dessen P

BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/784/bcs1l-(bcs1-homolog-ubiquinol-cytochrome-c-reductase-complex-chaperone)