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Protein

Mitochondrial chaperone BCS1

Gene

BCS1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • mitochondrial respiratory chain complex I assembly Source: UniProtKB
  • mitochondrial respiratory chain complex III assembly Source: UniProtKB
  • mitochondrial respiratory chain complex IV assembly Source: UniProtKB
  • mitochondrion organization Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000074582-MONOMER.
ReactomeiR-HSA-1268020. Mitochondrial protein import.

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

HGNCiHGNC:1020. BCS1L.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • mitochondrial respiratory chain complex III Source: ProtInc
  • mitochondrion Source: UniProtKB
Complete GO annotation...

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 rs28937590dbSNPEnsembl.1
Natural variantiVAR_018160144R → Q in GRACILE. 2 PublicationsCorresponds to variant rs386833857dbSNPEnsembl.1
Natural variantiVAR_018163327V → A in GRACILE. 2 PublicationsCorresponds to variant rs386833858dbSNPEnsembl.1
Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)6 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 rs121908575dbSNPEnsembl.1
Natural variantiVAR_06461550T → A in MC3DN1. 1 PublicationCorresponds to variant rs121908580dbSNPEnsembl.1
Natural variantiVAR_06461673R → C in MC3DN1. 1 PublicationCorresponds to variant rs140812286dbSNPEnsembl.1
Natural variantiVAR_01815999P → L in MC3DN1. 2 PublicationsCorresponds to variant rs121908572dbSNPEnsembl.1
Natural variantiVAR_072243129G → R in MC3DN1. 1 Publication1
Natural variantiVAR_018161155R → P in MC3DN1; abolishes interaction with LETM1. 3 PublicationsCorresponds to variant rs121908573dbSNPEnsembl.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 rs144885874dbSNPEnsembl.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 rs121908578dbSNPEnsembl.1
Natural variantiVAR_018162277S → N in MC3DN1. 2 PublicationsCorresponds to variant rs121908571dbSNPEnsembl.1
Natural variantiVAR_018164353V → M in MC3DN1. 2 PublicationsCorresponds to variant rs121908574dbSNPEnsembl.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 rs121908579dbSNPEnsembl.1
Natural variantiVAR_032088114R → W in BJS. 1 PublicationCorresponds to variant rs778769841dbSNPEnsembl.1
Natural variantiVAR_032089183R → H in BJS. 1 PublicationCorresponds to variant rs121908577dbSNPEnsembl.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 rs121908578dbSNPEnsembl.1
Natural variantiVAR_072244301Y → N in BJS. 1 PublicationCorresponds to variant rs587777278dbSNPEnsembl.1
Natural variantiVAR_032091302Q → E in BJS. 1 Publication1
Natural variantiVAR_032092306R → H in BJS. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation

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.

PTM databases

iPTMnetiQ9Y276.
PhosphoSitePlusiQ9Y276.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000074582.
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. 24 interactors.
IntActiQ9Y276. 6 interactors.
MINTiMINT-1433080.
STRINGi9606.ENSP00000352219.

Structurei

3D structure databases

ProteinModelPortaliQ9Y276.
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.
OMAiAENPVKY.
OrthoDBiEOG091G08O3.
PhylomeDBiQ9Y276.
TreeFamiTF315009.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR003960. ATPase_AAA_CS.
IPR027243. BCS1/plant_AAA_ATPases.
IPR014851. BCS1_N.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR23070:SF17. PTHR23070:SF17. 1 hit.
PfamiPF00004. AAA. 1 hit.
PF08740. BCS1_N. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
SM01024. BCS1_N. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS00674. AAA. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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

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 rs121908579dbSNPEnsembl.1
Natural variantiVAR_03208745R → C in MC3DN1. 1 PublicationCorresponds to variant rs121908575dbSNPEnsembl.1
Natural variantiVAR_06461550T → A in MC3DN1. 1 PublicationCorresponds to variant rs121908580dbSNPEnsembl.1
Natural variantiVAR_06461673R → C in MC3DN1. 1 PublicationCorresponds to variant rs140812286dbSNPEnsembl.1
Natural variantiVAR_01814978S → G in GRACILE. 2 PublicationsCorresponds to variant rs28937590dbSNPEnsembl.1
Natural variantiVAR_01815999P → L in MC3DN1. 2 PublicationsCorresponds to variant rs121908572dbSNPEnsembl.1
Natural variantiVAR_032088114R → W in BJS. 1 PublicationCorresponds to variant rs778769841dbSNPEnsembl.1
Natural variantiVAR_072243129G → R in MC3DN1. 1 Publication1
Natural variantiVAR_018160144R → Q in GRACILE. 2 PublicationsCorresponds to variant rs386833857dbSNPEnsembl.1
Natural variantiVAR_018161155R → P in MC3DN1; abolishes interaction with LETM1. 3 PublicationsCorresponds to variant rs121908573dbSNPEnsembl.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 rs144885874dbSNPEnsembl.1
Natural variantiVAR_032089183R → H in BJS. 1 PublicationCorresponds to variant rs121908577dbSNPEnsembl.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 rs121908578dbSNPEnsembl.1
Natural variantiVAR_018162277S → N in MC3DN1. 2 PublicationsCorresponds to variant rs121908571dbSNPEnsembl.1
Natural variantiVAR_072244301Y → N in BJS. 1 PublicationCorresponds to variant rs587777278dbSNPEnsembl.1
Natural variantiVAR_032091302Q → E in BJS. 1 Publication1
Natural variantiVAR_032092306R → H in BJS. 1 Publication1
Natural variantiVAR_018163327V → A in GRACILE. 2 PublicationsCorresponds to variant rs386833858dbSNPEnsembl.1
Natural variantiVAR_018164353V → M in MC3DN1. 2 PublicationsCorresponds to variant rs121908574dbSNPEnsembl.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.

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107087. 24 interactors.
IntActiQ9Y276. 6 interactors.
MINTiMINT-1433080.
STRINGi9606.ENSP00000352219.

PTM databases

iPTMnetiQ9Y276.
PhosphoSitePlusiQ9Y276.

Polymorphism and mutation databases

BioMutaiBCS1L.
DMDMi46397351.

Proteomic databases

EPDiQ9Y276.
MaxQBiQ9Y276.
PaxDbiQ9Y276.
PeptideAtlasiQ9Y276.
PRIDEiQ9Y276.

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.
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.
OMAiAENPVKY.
OrthoDBiEOG091G08O3.
PhylomeDBiQ9Y276.
TreeFamiTF315009.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000074582-MONOMER.
ReactomeiR-HSA-1268020. Mitochondrial protein import.

Miscellaneous databases

GeneWikiiBCS1L.
GenomeRNAii617.
PROiQ9Y276.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000074582.
CleanExiHS_BCS1L.
ExpressionAtlasiQ9Y276. baseline and differential.
GenevisibleiQ9Y276. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR003960. ATPase_AAA_CS.
IPR027243. BCS1/plant_AAA_ATPases.
IPR014851. BCS1_N.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR23070:SF17. PTHR23070:SF17. 1 hit.
PfamiPF00004. AAA. 1 hit.
PF08740. BCS1_N. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
SM01024. BCS1_N. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS00674. AAA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBCS1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y276
Secondary accession number(s): B3KTW9, Q7Z2V7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: November 1, 1999
Last modified: November 2, 2016
This is version 142 of the entry and version 1 of the sequence. [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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.