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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BCS1L Gene

protein-coding   GIFtS: 64
GCID: GC02P219523

BC1 (Ubiquinol-Cytochrome C Reductase) Synthesis-Like

(Previous names: BCS1 (yeast homolog)-like, BCS1-like (yeast), BCS1-like...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
BC1 (Ubiquinol-Cytochrome C Reductase) Synthesis-Like1 2     BCS1-Like (S. Cerevisiae)1
BCS12 3     BCS1-Like (Yeast)1
BCS1-Like Protein2 3     Bjornstad Syndrome1
h-BCS12 3     GRACILE Syndrome1
BJS2 5     BCS2
FLNMS2 5     MC3DN12
GRACILE2 5     h-BCS2
PTD2 5     Mitochondrial Chaperone BCS12
BCS1 (Yeast Homolog)-Like1     Mitochondrial Complex III Assembly2

External Ids:    HGNC: 10201   Entrez Gene: 6172   Ensembl: ENSG000000745827   OMIM: 6036475   UniProtKB: Q9Y2763   

Export aliases for BCS1L gene to outside databases

Previous GC identifers: GC02P217540 GC02P218245 GC02P219488 GC02P219727 GC02P219726 GC02P219349 GC02P219231 GC02P211377


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BCS1L Gene:
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)

GeneCards Summary for BCS1L Gene: 
BCS1L (BC1 (ubiquinol-cytochrome c reductase) synthesis-like) is a protein-coding gene. Diseases associated with BCS1L include gracile syndrome, and mitochondrial complex iii deficiency, and among its related super-pathways are Post-translational protein modification. GO annotations related to this gene include nucleoside-triphosphatase activity and ATP binding.

UniProtKB/Swiss-Prot: BCS1_HUMAN, Q9Y276
Function: 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

Gene Wiki entry for BCS1L Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCS1L gene promoter:
         GR   CREB   AP-1   deltaCREB   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBCS1L promoter sequence
   Search SABiosciences Chromatin IP Primers for BCS1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCS1L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

BCS1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCS1L gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P219523:  view genomic region     (about GC identifiers)

Start:
219,523,487 bp from pter      End:
219,528,166 bp from pter
Size:
4,680 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BCS1_HUMAN, Q9Y276 (See protein sequence)
Recommended Name: Mitochondrial chaperone BCS1  
Size: 419 amino acids; 47534 Da
Subunit: Interacts with LETM1
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein
Secondary accessions: B3KTW9 Q7Z2V7

Explore the universe of human proteins at neXtProt for BCS1L: NX_Q9Y276

Explore proteomics data for BCS1L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y276

  • BCS1L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BCS1L Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001073335.1  NP_001244271.1  NP_001244272.1  NP_001244273.1  NP_004319.1  

    ENSEMBL proteins: 
     ENSP00000391007   ENSP00000398957   ENSP00000395440   ENSP00000412729   ENSP00000352219  
     ENSP00000375957   ENSP00000375958   ENSP00000397293   ENSP00000375959   ENSP00000406494  
     ENSP00000404999   ENSP00000413908   ENSP00000416169   ENSP00000389402  
    Reactome Protein details: Q9Y276
    Human Recombinant Protein Products for BCS1L: 
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    Cloud-Clone Corp. Proteins for BCS1L 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA18628306
    GO:0005750mitochondrial respiratory chain complex III TAS9878253
    GO:0016021integral to membrane IEA--

    BCS1L for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MITOAF: Mitochondrial respiratory chain complex assembly factors
    AATP: ATPases / AAA-type

    5/6 InterPro protein domains (see all 6):
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR027243 BCS1

    Graphical View of Domain Structure for InterPro Entry Q9Y276

    ProtoNet protein and cluster: Q9Y276

    UniProtKB/Swiss-Prot: BCS1_HUMAN, Q9Y276
    Similarity: Belongs to the AAA ATPase family. BCS1 subfamily


    BCS1L for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BCS1_HUMAN, Q9Y276
    Function: 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

         Genatlas biochemistry entry for BCS1L:
    yeast BCS1,inner mitochondrial membrane,involved in the biogenesis of mitochondrial complex III,homolog

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003723RNA binding ----
    GO:0003724RNA helicase activity ----
    GO:0005515protein binding IPI18628306
    GO:0005524ATP binding IEA--
         
    BCS1L for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BCS1L:
     Increased gamma-H2AX phosphory 

         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bcs1l):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     liver/biliary system  mortality/aging  renal/urinary system  reproductive system 

    BCS1L for phenotypes           About GeneDecksing

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BCS1L About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    2Mitochondrial Protein Import
    Mitochondrial Protein Import

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2        Reactome Pathways for BCS1L
        Mitochondrial Protein Import
    Metabolism of proteins



    BCS1L for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BCS1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/44 Interacting proteins for BCS1L (Q9Y2762, 3 ENSP000003522194) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAJA1P316892, 3, ENSP000003691274MINT-8249465 I2D: score=2 STRING: ENSP00000369127
    DDX24Q9GZR72, 3MINT-65427 I2D: score=5 
    MT-CYBP001563, ENSP000003545544I2D: score=1 STRING: ENSP00000354554
    XRCC6BP1Q9Y6H33, ENSP000003001454I2D: score=1 STRING: ENSP00000300145
    CATP040403, ENSP000002410524I2D: score=1 STRING: ENSP00000241052
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007005mitochondrion organization IMP18628306
    GO:0032981mitochondrial respiratory chain complex I assembly IMP18628306
    GO:0033617mitochondrial respiratory chain complex IV assembly IMP18628306
    GO:0034551mitochondrial respiratory chain complex III assembly IMP18628306

    BCS1L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BCS1L for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BCS1L (BCS1)

    1 HMDB Compound for BCS1L    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--

    1 Novoseek inferred chemical compound relationship for BCS1L gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 39.1 3 12215968 (2), 17403714 (1)

    Search CenterWatch for drugs/clinical trials and news about BCS1L / BCS1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BCS1L gene (5 alternative transcripts): 
    NM_001079866.1  NM_001257342.1  NM_001257343.1  NM_001257344.1  NM_004328.4  

    Unigene Cluster for BCS1L:

    BC1 (ubiquinol-cytochrome c reductase) synthesis-like
    Hs.471401  [show with all ESTs]
    Unigene Representative Sequence: AK096210
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000428880 ENST00000430322 ENST00000456050 ENST00000443791 ENST00000359273(uc002viq.3)
    ENST00000490188 ENST00000392109(uc010fvu.3 uc010fvv.3) ENST00000392110
    ENST00000423377 ENST00000392111(uc002vip.3) ENST00000412366(uc002vis.3)
    ENST00000439945 ENST00000431802(uc021vwz.1) ENST00000493376 ENST00000471576
    ENST00000477422 ENST00000460579 ENST00000465706
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    Additional mRNA sequence: 

    AF026849.1 AF038195.1 AK096210.1 AK223518.1 AK289363.1 BC000416.2 BC007500.2 BX571752.1 
    EF672347.1 

    16 DOTS entries:

    DT.80101313  DT.40129812  DT.100797724  DT.100832208  DT.101961399  DT.101982350  DT.100797722  DT.120959197 
    DT.100797720  DT.100797723  DT.95216040  DT.92436172  DT.100772051  DT.120959200  DT.414399  DT.97846144 

    24/261 AceView cDNA sequences (see all 261):

    AL561309 CR591888 AA481361 BU172401 BQ675859 BI862082 BP373294 AF026849 
    BM726052 AK096210 AU280215 BM801126 BM923166 BM772848 BU168059 AA477399 
    BC007500 BM768296 BQ668537 BM804571 AA310488 BQ061925 F04231 BI091793 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for BCS1L (see all 15)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8 ^ 9a ·
    SP1:                                      -     -     -     -     -     -     -     -     -                                                                     
    SP2:                                                                          -     -     -                                                                     
    SP3:                                                              -     -     -     -     -                                                                     
    SP4:                          -     -     -     -     -     -     -     -     -     -     -                                                                     
    SP5:                                                                                                                          -     -                           

    ExUns: 9b · 9c ^ 10a · 10b ^ 11a · 11b
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for BCS1L

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BCS1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTATAAAA
    BCS1L Expression
    About this image


    See BCS1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCS1L

    SOURCE GeneReport for Unigene cluster: Hs.471401

    UniProtKB/Swiss-Prot: BCS1_HUMAN, Q9Y276
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Array including BCS1L: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BCS1L gene from 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcs1l1 , 5 BCS1-like (yeast)1, 5 89.31(n)1
    94.02(a)1
      1 (38.54 cM)5
    668211  NM_025784.41  NP_080060.11 
     745882895 
    chicken
    (Gallus gallus)
    Aves BCS1L1 BCS1-like (S. cerevisiae) 76.82(n)
    79.62(a)
      424212  NM_001006520.1  NP_001006520.1 
    lizard
    (Anolis carolinensis)
    Reptilia BCS1L6
    Uncharacterized protein
    78(a)
    1 ↔ 1
    1(88358330-88368350)
    African clawed frog
    (Xenopus laevis)
    Amphibia bcs1l-prov2 BCS1-like (yeast) 78.27(n)    BC045021.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc562052 similar to BCS1-like (yeast) 75.5(n)   394157  AY394959.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG49081 , 3 cytochrome bc(1) complex biogenesis
    chaperonin more3
    CG49081
    60(a)3
    60.19(n)1
    60.91(a)1
      31B13
    343601  NM_135514.21  NP_609358.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F54C9.63
    bcs-11
    ATP-binding protein (CDC48/PAS1/SEC18
    family)3
    Protein BCS-11
    49(a)3
    52.58(n)1
    49.76(a)1
      II(8571018-8572741)3
    1743721  NM_001027020.11  NP_001022191.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BCS1(YDR375C)4
    BCS11
    Mitochondrial protein of the AAA ATPase family; has more4
    Bcs1p1
    53.71(n)1
    50.99(a)1
      4(1226536-1225166)4
    8519811, 4  NP_010663.11, 4 


    ENSEMBL Gene Tree for BCS1L (if available)
    TreeFam Gene Tree for BCS1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCS1L gene
    1 SIMAP similar gene for BCS1L using alignment to 9 protein entries:     BCS1_HUMAN (see all proteins):
    NVL

    BCS1L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/93 SNPs in BCS1L are shown (see all 93)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0320884
    Bjoernstad syndrome (BJS)4--see VAR_0320882 R W mis40--------
    VAR_0181644
    Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)4--see VAR_0181642 V M mis40--------
    VAR_0181614
    Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)4--see VAR_0181612 R P mis40--------
    VAR_0646174
    Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)4--see VAR_0646172 R C mis40--------
    VAR_0320904
    Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)4--see VAR_0320902 R C mis40--------
    VAR_0181624
    Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)4--see VAR_0181622 S N mis40--------
    VAR_0646184
    Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)4--see VAR_0646182 F I mis40--------
    VAR_0181604
    GRACILE syndrome (GRACILE)4--see VAR_0181602 R Q mis40--------
    VAR_0320914
    Bjoernstad syndrome (BJS)4--see VAR_0320912 Q E mis40--------
    VAR_0320924
    Bjoernstad syndrome (BJS)4--see VAR_0320922 R H mis40--------

    HapMap Linkage Disequilibrium report for BCS1L (219523487 - 219528166 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BCS1L:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv875862CNV Gain21882294


    Human Gene Mutation Database (HGMD): BCS1L
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing BCS1L
    DNA2.0 Custom Variant and Variant Library Synthesis for BCS1L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603647   
    OMIM disorders: 124000  603358  256000  262000  
    UniProtKB/Swiss-Prot: BCS1_HUMAN, Q9Y276
  • GRACILE syndrome (GRACILE) [MIM:603358]: GRACILE 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]: A 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Bjoernstad syndrome (BJS) [MIM:262000]: An 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/26 diseases for BCS1L (see all 26):    About MalaCards
    gracile syndrome    mitochondrial complex iii deficiency    bjornstad syndrome    breast giant fibroadenoma
    mitochondrial respiratory chain complex iii deficiency, bcs1l-related    breast pericanalicular fibroadenoma    pili torti    hallermann-streiff syndrome
    mitochondrial dna deletion syndromes    aminoaciduria    neuroaxonal dystrophy    mitochondrial dna-associated leigh syndrome and narp
    hydrops fetalis    metabolic disorders    mitochondrial encephalomyopathy    mitochondrial disorders
    alpha thalassemia    sensorineural hearing loss    lactic acidosis    encephalomyopathy

    2 diseases from the University of Copenhagen DISEASES database for BCS1L:
    Hallermann-Streiff syndrome     Breast pericanalicular fibroadenoma

    BCS1L for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for BCS1L gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gracile syndrome 98.9 7 12215968 (3), 18386115 (2), 17314340 (2)
    mitochondrial diseases 70.7 2 18386115 (1), 17314340 (1)
    iron overload 64.3 1 12215968 (1)
    liver failure 56.4 1 19389488 (1)
    encephalopathy 43.3 2 17403714 (1), 11528392 (1)
    metabolic disorder 43 2 12215968 (2)

    Genetic Association Database (GAD): BCS1L
    Human Genome Epidemiology (HuGE) Navigator: BCS1L (1 document)

    Export disorders for BCS1L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BCS1L gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with BCS1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Missense mutations in the BCS1L gene as a cause of the Bjoernstad syndrome. (PubMed id 17314340)1, 2, 3, 9 Hinson J.T.... Seidman C.E. (2007)
    2. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. (PubMed id 9878253)1, 2, 3 Petruzzella V....Zeviani M. (1998)
    3. Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. (PubMed id 17403714)1, 2, 9 Fernandez-Vizarra E....Zeviani M. (2007)
    4. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. (PubMed id 12215968)1, 2, 9 Visapaeae I.... Peltonen L. (2002)
    5. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. (PubMed id 11528392)1, 2, 9 de Lonlay P.... Roetig A. (2001)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    7. Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. (PubMed id 19162478)1, 2 BlA!zquez A....Ugalde C. (2009)
    8. Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L. (PubMed id 18628306)1, 2 Tamai S....Oka T. (2008)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 617 HGNC: 1020 AceView: BCS1L Ensembl:ENSG00000074582 euGenes: HUgn617
    ECgene: BCS1L H-InvDB: BCS1L

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BCS1L Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BCS1L Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BCS1L

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BCS1L gene:
    Search GeneIP for patents involving BCS1L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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