BCS1L

GENERAL INFORMATION

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Gene name

BCS1L

Gene description

BC1 (ubiquinol-cytochrome c reductase) synthesis-like

Protein class

Disease related genes
Mitochondrial proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

14
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA037700 , HPA037701
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

BCS1L (HGNC Symbol)

Synonyms

BCS, BJS, h-BCS, Hs.6719

Description

BC1 (ubiquinol-cytochrome c reductase) synthesis-like (HGNC Symbol)

Entrez gene 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. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012]

Chromosome

2

Cytoband

q35

Chromosome location (bp)

218658764 - 218663443

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000074582 (version 78.38)

Entrez gene

617

UniProt

Q9Y276 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y276

Antibodypedia

BCS1L antibodies


PROTEIN BROWSER

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ENST00000359273
 
ENST00000392109
 
ENST00000392110
 
ENST00000392111
 
ENST00000412366
 
ENST00000423377
 
ENST00000426649
 
ENST00000428880
 
ENST00000430322
 
ENST00000431802
 
ENST00000436603
 
ENST00000439945
 
ENST00000443791
 
ENST00000456050
 
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PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BCS1L-001 ENSP00000375957
ENST00000392109
Q9Y276
Show all »
Show » Show » 419 47.5 No 1
BCS1L-002 ENSP00000375958
ENST00000392110
Q9Y276
Show all »
Show » Show » 419 47.5 No 1
BCS1L-003 ENSP00000352219
ENST00000359273
Q9Y276
Show all »
Show » Show » 419 47.5 No 1
BCS1L-004 ENSP00000406494
ENST00000412366
Q9Y276
Show all »
Show » Show » 419 47.5 No 1
BCS1L-005 ENSP00000404999
ENST00000439945
Q9Y276
Show all »
Show » Show » 419 47.5 No 1
BCS1L-006 ENSP00000413908
ENST00000431802
Q9Y276
Show all »
Show » Show » 419 47.5 No 1
BCS1L-007 ENSP00000375959
ENST00000392111
Q9Y276
Show all »
Show » Show » 419 47.5 No 1
BCS1L-008 ENSP00000391007
ENST00000428880
C9J4Q9
Show all »
Show » 77 8.6 No 1
BCS1L-009 ENSP00000398957
ENST00000430322
C9J8G3
Show all »
Show » 206 23.7 No 1
BCS1L-010 ENSP00000395440
ENST00000456050
C9J8G3
Show all »
Show » 206 23.7 No 1
BCS1L-011 ENSP00000412729
ENST00000443791
C9J1S9
Show all »
Show » Show » 150 17.1 No 0
BCS1L-013 ENSP00000397293
ENST00000423377
C9JAS4
Show all »
Show » 110 12.5 No 1
BCS1L-018 ENSP00000416169
ENST00000426649
Show » Show » 201 22.1 No 0
BCS1L-019 ENSP00000389402
ENST00000436603
Show » Show » 121 13 No 0