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Protein

Mitochondrial chaperone BCS1

Gene

BCS1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi230 – 237ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChaperone
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import

Protein family/group databases

TCDBi3.A.28.1.5 the aaa-atpase, bcs1 (bcs1) family

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial chaperone BCS1
Short name:
h-BCS1
Alternative name(s):
BCS1-like protein
Gene namesi
Name:BCS1L
Synonyms:BCS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000074582.12
HGNCiHGNC:1020 BCS1L
MIMi603647 gene
neXtProtiNX_Q9Y276

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini2 – 15Mitochondrial intermembraneSequence analysisAdd BLAST14
Transmembranei16 – 32HelicalSequence analysisAdd BLAST17
Topological domaini33 – 419Mitochondrial matrixSequence analysisAdd BLAST387

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

GRACILE syndrome (GRACILE)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionGRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.
See also OMIM:603358
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01814978S → G in GRACILE. 2 PublicationsCorresponds to variant dbSNP:rs28937590EnsemblClinVar.1
Natural variantiVAR_018160144R → Q in GRACILE. 2 PublicationsCorresponds to variant dbSNP:rs386833857EnsemblClinVar.1
Natural variantiVAR_018163327V → A in GRACILE. 2 PublicationsCorresponds to variant dbSNP:rs386833858EnsemblClinVar.1
Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.
See also OMIM:124000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03208745R → C in MC3DN1. 1 PublicationCorresponds to variant dbSNP:rs121908575EnsemblClinVar.1
Natural variantiVAR_06461550T → A in MC3DN1. 1 PublicationCorresponds to variant dbSNP:rs121908580EnsemblClinVar.1
Natural variantiVAR_06461673R → C in MC3DN1. 1 PublicationCorresponds to variant dbSNP:rs140812286EnsemblClinVar.1
Natural variantiVAR_01815999P → L in MC3DN1. 2 PublicationsCorresponds to variant dbSNP:rs121908572EnsemblClinVar.1
Natural variantiVAR_072243129G → R in MC3DN1. 1 PublicationCorresponds to variant dbSNP:rs1057521059Ensembl.1
Natural variantiVAR_018161155R → P in MC3DN1; abolishes interaction with LETM1. 3 PublicationsCorresponds to variant dbSNP:rs121908573EnsemblClinVar.1
Natural variantiVAR_064617183R → C in MC3DN1; causes a decreased incorporation of the Rieske iron-sulfur protein UQCRFS1 into complex III. 1 PublicationCorresponds to variant dbSNP:rs144885874EnsemblClinVar.1
Natural variantiVAR_018162277S → N in MC3DN1. 2 PublicationsCorresponds to variant dbSNP:rs121908571EnsemblClinVar.1
Natural variantiVAR_018164353V → M in MC3DN1. 2 PublicationsCorresponds to variant dbSNP:rs121908574EnsemblClinVar.1
Natural variantiVAR_064618368F → I in MC3DN1. 1 Publication1
Bjoernstad syndrome (BJS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle.
See also OMIM:262000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03208635G → R in BJS; with mild mitochondrial complex III deficiency. 1 PublicationCorresponds to variant dbSNP:rs121908579EnsemblClinVar.1
Natural variantiVAR_032088114R → W in BJS. 1 PublicationCorresponds to variant dbSNP:rs778769841Ensembl.1
Natural variantiVAR_032089183R → H in BJS. 1 PublicationCorresponds to variant dbSNP:rs121908577EnsemblClinVar.1
Natural variantiVAR_072244301Y → N in BJS. 1 PublicationCorresponds to variant dbSNP:rs587777278EnsemblClinVar.1
Natural variantiVAR_032091302Q → E in BJS. 1 PublicationCorresponds to variant dbSNP:rs1457171169Ensembl.1
Natural variantiVAR_032092306R → H in BJS. 1 PublicationCorresponds to variant dbSNP:rs1280810181Ensembl.1

Keywords - Diseasei

Deafness, Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi617
MalaCardsiBCS1L
MIMi124000 phenotype
262000 phenotype
603358 phenotype
OpenTargetsiENSG00000074582
Orphaneti123 Bjornstad syndrome
53693 GRACILE syndrome
1460 Isolated CoQ-cytochrome C reductase deficiency
255249 Leigh syndrome with nephrotic syndrome
254902 Renal tubulopathy - encephalopathy - liver failure
PharmGKBiPA25327

Polymorphism and mutation databases

BioMutaiBCS1L
DMDMi46397351

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000847722 – 419Mitochondrial chaperone BCS1Add BLAST418

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei181PhosphotyrosineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y276
MaxQBiQ9Y276
PaxDbiQ9Y276
PeptideAtlasiQ9Y276
PRIDEiQ9Y276
ProteomicsDBi85679

PTM databases

iPTMnetiQ9Y276
PhosphoSitePlusiQ9Y276

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000074582 Expressed in 215 organ(s), highest expression level in body of pancreas
CleanExiHS_BCS1L
ExpressionAtlasiQ9Y276 baseline and differential
GenevisibleiQ9Y276 HS

Organism-specific databases

HPAiHPA037700
HPA037701

Interactioni

Subunit structurei

Interacts with LETM1.1 Publication

Protein-protein interaction databases

BioGridi107087, 26 interactors
IntActiQ9Y276, 10 interactors
MINTiQ9Y276
STRINGi9606.ENSP00000352219

Structurei

3D structure databases

ProteinModelPortaliQ9Y276
SMRiQ9Y276
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the AAA ATPase family. BCS1 subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0743 Eukaryota
COG0465 LUCA
GeneTreeiENSGT00390000005415
HOGENOMiHOG000198799
HOVERGENiHBG048759
InParanoidiQ9Y276
KOiK08900
OMAiYQWLLQW
OrthoDBiEOG091G08O3
PhylomeDBiQ9Y276
TreeFamiTF315009

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003959 ATPase_AAA_core
IPR003960 ATPase_AAA_CS
IPR027243 BCS1
IPR014851 BCS1_N
IPR027417 P-loop_NTPase
PANTHERiPTHR23070:SF17 PTHR23070:SF17, 1 hit
PfamiView protein in Pfam
PF00004 AAA, 1 hit
PF08740 BCS1_N, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SM01024 BCS1_N, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00674 AAA, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

Q9Y276-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPLSDFILAL KDNPYFGAGF GLVGVGTALA LARKGVQLGL VAFRRHYMIT
60 70 80 90 100
LEVPARDRSY AWLLSWLTRH STRTQHLSVE TSYLQHESGR ISTKFEFVPS
110 120 130 140 150
PGNHFIWYRG KWIRVERSRE MQMIDLQTGT PWESVTFTAL GTDRKVFFNI
160 170 180 190 200
LEEARELALQ QEEGKTVMYT AVGSEWRPFG YPRRRRPLNS VVLQQGLADR
210 220 230 240 250
IVRDVQEFID NPKWYTDRGI PYRRGYLLYG PPGCGKSSFI TALAGELEHS
260 270 280 290 300
ICLLSLTDSS LSDDRLNHLL SVAPQQSLVL LEDVDAAFLS RDLAVENPVK
310 320 330 340 350
YQGLGRLTFS GLLNALDGVA STEARIVFMT TNHVDRLDPA LIRPGRVDLK
360 370 380 390 400
EYVGYCSHWQ LTQMFQRFYP GQAPSLAENF AEHVLRATNQ ISPAQVQGYF
410
MLYKNDPVGA IHNAESLRR
Length:419
Mass (Da):47,534
Last modified:November 1, 1999 - v1
Checksum:i7F0F98BA62F2CBB8
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C492H7C492_HUMAN
Mitochondrial chaperone BCS1
BCS1L
201Annotation score:
C9JAS4C9JAS4_HUMAN
Mitochondrial chaperone BCS1
BCS1L
110Annotation score:
C9J8G3C9J8G3_HUMAN
Mitochondrial chaperone BCS1
BCS1L
206Annotation score:
C9J4Q9C9J4Q9_HUMAN
Mitochondrial chaperone BCS1
BCS1L
76Annotation score:
A0A2R8Y7T3A0A2R8Y7T3_HUMAN
Mitochondrial chaperone BCS1
BCS1L
153Annotation score:
C9J1S9C9J1S9_HUMAN
Mitochondrial chaperone BCS1
BCS1L
150Annotation score:
H7BZF6H7BZF6_HUMAN
Mitochondrial chaperone BCS1
BCS1L
121Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti394A → T in CAE11877 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03208635G → R in BJS; with mild mitochondrial complex III deficiency. 1 PublicationCorresponds to variant dbSNP:rs121908579EnsemblClinVar.1
Natural variantiVAR_03208745R → C in MC3DN1. 1 PublicationCorresponds to variant dbSNP:rs121908575EnsemblClinVar.1
Natural variantiVAR_06461550T → A in MC3DN1. 1 PublicationCorresponds to variant dbSNP:rs121908580EnsemblClinVar.1
Natural variantiVAR_06461673R → C in MC3DN1. 1 PublicationCorresponds to variant dbSNP:rs140812286EnsemblClinVar.1
Natural variantiVAR_01814978S → G in GRACILE. 2 PublicationsCorresponds to variant dbSNP:rs28937590EnsemblClinVar.1
Natural variantiVAR_01815999P → L in MC3DN1. 2 PublicationsCorresponds to variant dbSNP:rs121908572EnsemblClinVar.1
Natural variantiVAR_032088114R → W in BJS. 1 PublicationCorresponds to variant dbSNP:rs778769841Ensembl.1
Natural variantiVAR_072243129G → R in MC3DN1. 1 PublicationCorresponds to variant dbSNP:rs1057521059Ensembl.1
Natural variantiVAR_018160144R → Q in GRACILE. 2 PublicationsCorresponds to variant dbSNP:rs386833857EnsemblClinVar.1
Natural variantiVAR_018161155R → P in MC3DN1; abolishes interaction with LETM1. 3 PublicationsCorresponds to variant dbSNP:rs121908573EnsemblClinVar.1
Natural variantiVAR_064617183R → C in MC3DN1; causes a decreased incorporation of the Rieske iron-sulfur protein UQCRFS1 into complex III. 1 PublicationCorresponds to variant dbSNP:rs144885874EnsemblClinVar.1
Natural variantiVAR_032089183R → H in BJS. 1 PublicationCorresponds to variant dbSNP:rs121908577EnsemblClinVar.1
Natural variantiVAR_032090184R → C in MC3DN1 and BJS; with mild mitochondrial complex III deficiency; causes a decreased incorporation of the Rieske iron-sulfur protein UQCRFS1 into complex III. 2 PublicationsCorresponds to variant dbSNP:rs121908578EnsemblClinVar.1
Natural variantiVAR_018162277S → N in MC3DN1. 2 PublicationsCorresponds to variant dbSNP:rs121908571EnsemblClinVar.1
Natural variantiVAR_072244301Y → N in BJS. 1 PublicationCorresponds to variant dbSNP:rs587777278EnsemblClinVar.1
Natural variantiVAR_032091302Q → E in BJS. 1 PublicationCorresponds to variant dbSNP:rs1457171169Ensembl.1
Natural variantiVAR_032092306R → H in BJS. 1 PublicationCorresponds to variant dbSNP:rs1280810181Ensembl.1
Natural variantiVAR_018163327V → A in GRACILE. 2 PublicationsCorresponds to variant dbSNP:rs386833858EnsemblClinVar.1
Natural variantiVAR_018164353V → M in MC3DN1. 2 PublicationsCorresponds to variant dbSNP:rs121908574EnsemblClinVar.1
Natural variantiVAR_064618368F → I in MC3DN1. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF026849 mRNA Translation: AAD08638.1
AF346835 Genomic DNA Translation: AAK29417.1
AF516670 Genomic DNA Translation: AAN05490.1
AF038195 mRNA Translation: AAB97365.1
AK096210 mRNA Translation: BAG53231.1
BX571752 mRNA Translation: CAE11877.1
CH471063 Genomic DNA Translation: EAW70634.1
BC000416 mRNA Translation: AAH00416.1
BC007500 mRNA Translation: AAH07500.1
CCDSiCCDS2419.1
RefSeqiNP_001073335.1, NM_001079866.1
NP_001244271.1, NM_001257342.1
NP_001244272.1, NM_001257343.1
NP_001244273.1, NM_001257344.1
NP_001305765.1, NM_001318836.1
NP_001307646.1, NM_001320717.1
NP_004319.1, NM_004328.4
XP_006712741.1, XM_006712678.1
XP_016860120.1, XM_017004631.1
XP_016860121.1, XM_017004632.1
UniGeneiHs.471401

Genome annotation databases

EnsembliENST00000359273; ENSP00000352219; ENSG00000074582
ENST00000392109; ENSP00000375957; ENSG00000074582
ENST00000392110; ENSP00000375958; ENSG00000074582
ENST00000392111; ENSP00000375959; ENSG00000074582
ENST00000412366; ENSP00000406494; ENSG00000074582
ENST00000431802; ENSP00000413908; ENSG00000074582
ENST00000439945; ENSP00000404999; ENSG00000074582
GeneIDi617
KEGGihsa:617
UCSCiuc002vip.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF026849 mRNA Translation: AAD08638.1
AF346835 Genomic DNA Translation: AAK29417.1
AF516670 Genomic DNA Translation: AAN05490.1
AF038195 mRNA Translation: AAB97365.1
AK096210 mRNA Translation: BAG53231.1
BX571752 mRNA Translation: CAE11877.1
CH471063 Genomic DNA Translation: EAW70634.1
BC000416 mRNA Translation: AAH00416.1
BC007500 mRNA Translation: AAH07500.1
CCDSiCCDS2419.1
RefSeqiNP_001073335.1, NM_001079866.1
NP_001244271.1, NM_001257342.1
NP_001244272.1, NM_001257343.1
NP_001244273.1, NM_001257344.1
NP_001305765.1, NM_001318836.1
NP_001307646.1, NM_001320717.1
NP_004319.1, NM_004328.4
XP_006712741.1, XM_006712678.1
XP_016860120.1, XM_017004631.1
XP_016860121.1, XM_017004632.1
UniGeneiHs.471401

3D structure databases

ProteinModelPortaliQ9Y276
SMRiQ9Y276
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107087, 26 interactors
IntActiQ9Y276, 10 interactors
MINTiQ9Y276
STRINGi9606.ENSP00000352219

Protein family/group databases

TCDBi3.A.28.1.5 the aaa-atpase, bcs1 (bcs1) family

PTM databases

iPTMnetiQ9Y276
PhosphoSitePlusiQ9Y276

Polymorphism and mutation databases

BioMutaiBCS1L
DMDMi46397351

Proteomic databases

EPDiQ9Y276
MaxQBiQ9Y276
PaxDbiQ9Y276
PeptideAtlasiQ9Y276
PRIDEiQ9Y276
ProteomicsDBi85679

Protocols and materials databases

DNASUi617
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359273; ENSP00000352219; ENSG00000074582
ENST00000392109; ENSP00000375957; ENSG00000074582
ENST00000392110; ENSP00000375958; ENSG00000074582
ENST00000392111; ENSP00000375959; ENSG00000074582
ENST00000412366; ENSP00000406494; ENSG00000074582
ENST00000431802; ENSP00000413908; ENSG00000074582
ENST00000439945; ENSP00000404999; ENSG00000074582
GeneIDi617
KEGGihsa:617
UCSCiuc002vip.4 human

Organism-specific databases

CTDi617
DisGeNETi617
EuPathDBiHostDB:ENSG00000074582.12
GeneCardsiBCS1L
HGNCiHGNC:1020 BCS1L
HPAiHPA037700
HPA037701
MalaCardsiBCS1L
MIMi124000 phenotype
262000 phenotype
603358 phenotype
603647 gene
neXtProtiNX_Q9Y276
OpenTargetsiENSG00000074582
Orphaneti123 Bjornstad syndrome
53693 GRACILE syndrome
1460 Isolated CoQ-cytochrome C reductase deficiency
255249 Leigh syndrome with nephrotic syndrome
254902 Renal tubulopathy - encephalopathy - liver failure
PharmGKBiPA25327
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0743 Eukaryota
COG0465 LUCA
GeneTreeiENSGT00390000005415
HOGENOMiHOG000198799
HOVERGENiHBG048759
InParanoidiQ9Y276
KOiK08900
OMAiYQWLLQW
OrthoDBiEOG091G08O3
PhylomeDBiQ9Y276
TreeFamiTF315009

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import

Miscellaneous databases

GeneWikiiBCS1L
GenomeRNAii617
PROiPR:Q9Y276
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000074582 Expressed in 215 organ(s), highest expression level in body of pancreas
CleanExiHS_BCS1L
ExpressionAtlasiQ9Y276 baseline and differential
GenevisibleiQ9Y276 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003959 ATPase_AAA_core
IPR003960 ATPase_AAA_CS
IPR027243 BCS1
IPR014851 BCS1_N
IPR027417 P-loop_NTPase
PANTHERiPTHR23070:SF17 PTHR23070:SF17, 1 hit
PfamiView protein in Pfam
PF00004 AAA, 1 hit
PF08740 BCS1_N, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SM01024 BCS1_N, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00674 AAA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBCS1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y276
Secondary accession number(s): B3KTW9, Q7Z2V7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: November 1, 1999
Last modified: October 10, 2018
This is version 158 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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