Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Mitochondrial chaperone BCS1

Gene

BCS1L

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi230 – 237ATPSequence analysis8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChaperone
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1268020 Mitochondrial protein import

Protein family/group databases

Transport Classification Database

More...
TCDBi
3.A.28.1.5 the aaa-atpase, bcs1 (bcs1) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mitochondrial chaperone BCS1
Short name:
h-BCS1
Alternative name(s):
BCS1-like protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BCS1L
Synonyms:BCS1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000074582.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1020 BCS1L

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603647 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y276

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini2 – 15Mitochondrial intermembraneSequence analysisAdd BLAST14
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei16 – 32HelicalSequence analysisAdd BLAST17
Topological domaini33 – 419Mitochondrial matrixSequence analysisAdd BLAST387

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
617

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
BCS1L

MalaCards human disease database

More...
MalaCardsi
BCS1L
MIMi124000 phenotype
262000 phenotype
603358 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000074582

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
123 Bjoernstad syndrome
53693 GRACILE syndrome
1460 Isolated complex III deficiency
254902 Renal tubulopathy-encephalopathy-liver failure syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25327

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BCS1L

Domain mapping of disease mutations (DMDM)

More...
DMDMi
46397351

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000847722 – 419Mitochondrial chaperone BCS1Add BLAST418

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei181PhosphotyrosineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y276

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9Y276

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9Y276

PeptideAtlas

More...
PeptideAtlasi
Q9Y276

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y276

ProteomicsDB human proteome resource

More...
ProteomicsDBi
85679

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y276

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y276

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000074582 Expressed in 215 organ(s), highest expression level in body of pancreas

CleanEx database of gene expression profiles

More...
CleanExi
HS_BCS1L

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y276 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y276 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA037700
HPA037701

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with LETM1.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107087, 26 interactors

Protein interaction database and analysis system

More...
IntActi
Q9Y276, 10 interactors

Molecular INTeraction database

More...
MINTi
Q9Y276

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000352219

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9Y276

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9Y276

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the AAA ATPase family. BCS1 subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0743 Eukaryota
COG0465 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000005415

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000198799

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG048759

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y276

KEGG Orthology (KO)

More...
KOi
K08900

Identification of Orthologs from Complete Genome Data

More...
OMAi
YQWLLQW

Database of Orthologous Groups

More...
OrthoDBi
EOG091G08O3

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y276

TreeFam database of animal gene trees

More...
TreeFami
TF315009

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR003959 ATPase_AAA_core
IPR003960 ATPase_AAA_CS
IPR027243 BCS1
IPR014851 BCS1_N
IPR027417 P-loop_NTPase

The PANTHER Classification System

More...
PANTHERi
PTHR23070:SF17 PTHR23070:SF17, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00004 AAA, 1 hit
PF08740 BCS1_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00382 AAA, 1 hit
SM01024 BCS1_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00674 AAA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7F0F98BA62F2CBB8
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J8G3C9J8G3_HUMAN
Mitochondrial chaperone BCS1
BCS1L
206Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C492H7C492_HUMAN
Mitochondrial chaperone BCS1
BCS1L
201Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JAS4C9JAS4_HUMAN
Mitochondrial chaperone BCS1
BCS1L
110Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J4Q9C9J4Q9_HUMAN
Mitochondrial chaperone BCS1
BCS1L
76Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7T3A0A2R8Y7T3_HUMAN
Mitochondrial chaperone BCS1
BCS1L
153Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J1S9C9J1S9_HUMAN
Mitochondrial chaperone BCS1
BCS1L
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZF6H7BZF6_HUMAN
Mitochondrial chaperone BCS1
BCS1L
121Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2419.1

NCBI Reference Sequences

More...
RefSeqi
NP_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

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.471401

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000359273; ENSP00000352219; ENSG00000074582
ENST00000392109; ENSP00000375957; ENSG00000074582
ENST00000392110; ENSP00000375958; ENSG00000074582
ENST00000392111; ENSP00000375959; ENSG00000074582
ENST00000412366; ENSP00000406494; ENSG00000074582
ENST00000431802; ENSP00000413908; ENSG00000074582
ENST00000439945; ENSP00000404999; ENSG00000074582

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
617

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:617

UCSC genome browser

More...
UCSCi
uc002vip.4 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

The DNASU plasmid repository

More...
DNASUi
617
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

Comparative Toxicogenomics Database

More...
CTDi
617
DisGeNETi617
EuPathDBiHostDB:ENSG00000074582.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BCS1L
GeneReviewsiBCS1L
HGNCiHGNC:1020 BCS1L
HPAiHPA037700
HPA037701
MalaCardsiBCS1L
MIMi124000 phenotype
262000 phenotype
603358 phenotype
603647 gene
neXtProtiNX_Q9Y276
OpenTargetsiENSG00000074582
Orphaneti123 Bjoernstad syndrome
53693 GRACILE syndrome
1460 Isolated complex III deficiency
254902 Renal tubulopathy-encephalopathy-liver failure syndrome
PharmGKBiPA25327

GenAtlas: human gene database

More...
GenAtlasi
Search...

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

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
BCS1L

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
617

Protein Ontology

More...
PROi
PR:Q9Y276

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBCS1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y276
Secondary accession number(s): B3KTW9, Q7Z2V7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: November 1, 1999
Last modified: December 5, 2018
This is version 160 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again