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Q9Y276

- BCS1_HUMAN

UniProt

Q9Y276 - BCS1_HUMAN

Protein

Mitochondrial chaperone BCS1

Gene

BCS1L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi230 – 2378ATPSequence Analysis

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. nucleoside-triphosphatase activity Source: InterPro
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. mitochondrial respiratory chain complex I assembly Source: UniProtKB
    2. mitochondrial respiratory chain complex III assembly Source: UniProtKB
    3. mitochondrial respiratory chain complex IV assembly Source: UniProtKB
    4. mitochondrion organization Source: UniProtKB

    Keywords - Molecular functioni

    Chaperone

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_118595. 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
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:1020. BCS1L.

    Subcellular locationi

    Mitochondrion inner membrane 2 Publications; Single-pass membrane protein 2 Publications

    GO - Cellular componenti

    1. mitochondrial respiratory chain complex III Source: ProtInc
    2. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti78 – 781S → G in GRACILE. 2 Publications
    Corresponds to variant rs28937590 [ dbSNP | Ensembl ].
    VAR_018149
    Natural varianti144 – 1441R → Q in GRACILE. 2 Publications
    VAR_018160
    Natural varianti327 – 3271V → A in GRACILE. 2 Publications
    VAR_018163
    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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451R → C in MC3DN1. 1 Publication
    VAR_032087
    Natural varianti50 – 501T → A in MC3DN1. 1 Publication
    VAR_064615
    Natural varianti73 – 731R → C in MC3DN1. 1 Publication
    VAR_064616
    Natural varianti99 – 991P → L in MC3DN1. 2 Publications
    VAR_018159
    Natural varianti155 – 1551R → P in MC3DN1; abolishes interaction with LETM1. 2 Publications
    VAR_018161
    Natural varianti183 – 1831R → C in MC3DN1; causes a decreased incorporation of the Rieske iron-sulfur protein UQCRFS1 into complex III. 1 Publication
    VAR_064617
    Natural varianti184 – 1841R → 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 Publications
    VAR_032090
    Natural varianti277 – 2771S → N in MC3DN1. 2 Publications
    VAR_018162
    Natural varianti353 – 3531V → M in MC3DN1. 2 Publications
    VAR_018164
    Natural varianti368 – 3681F → I in MC3DN1. 1 Publication
    VAR_064618
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351G → R in BJS; with mild mitochondrial complex III deficiency. 1 Publication
    VAR_032086
    Natural varianti114 – 1141R → W in BJS. 1 Publication
    VAR_032088
    Natural varianti183 – 1831R → H in BJS. 1 Publication
    VAR_032089
    Natural varianti184 – 1841R → 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 Publications
    VAR_032090
    Natural varianti302 – 3021Q → E in BJS. 1 Publication
    VAR_032091
    Natural varianti306 – 3061R → H in BJS. 1 Publication
    VAR_032092

    Keywords - Diseasei

    Deafness, Disease mutation

    Organism-specific databases

    MIMi124000. phenotype.
    262000. phenotype.
    603358. phenotype.
    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.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 419419Mitochondrial chaperone BCS1PRO_0000084772Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y276.
    PaxDbiQ9Y276.
    PeptideAtlasiQ9Y276.
    PRIDEiQ9Y276.

    PTM databases

    PhosphoSiteiQ9Y276.

    Expressioni

    Tissue specificityi

    Ubiquitous.1 Publication

    Gene expression databases

    ArrayExpressiQ9Y276.
    BgeeiQ9Y276.
    CleanExiHS_BCS1L.
    GenevestigatoriQ9Y276.

    Organism-specific databases

    HPAiHPA037700.
    HPA037701.

    Interactioni

    Subunit structurei

    Interacts with LETM1.1 Publication

    Protein-protein interaction databases

    BioGridi107087. 6 interactions.
    IntActiQ9Y276. 3 interactions.
    MINTiMINT-1433080.
    STRINGi9606.ENSP00000352219.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y276.
    SMRiQ9Y276. Positions 153-398.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1515Mitochondrial intermembraneSequence AnalysisAdd
    BLAST
    Topological domaini33 – 419387Mitochondrial matrixSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei16 – 3217HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the AAA ATPase family. BCS1 subfamily.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0465.
    HOGENOMiHOG000198799.
    HOVERGENiHBG048759.
    InParanoidiQ9Y276.
    KOiK08900.
    OMAiAENPVKY.
    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.
    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.

    Q9Y276-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPLSDFILAL KDNPYFGAGF GLVGVGTALA LARKGVQLGL VAFRRHYMIT    50
    LEVPARDRSY AWLLSWLTRH STRTQHLSVE TSYLQHESGR ISTKFEFVPS 100
    PGNHFIWYRG KWIRVERSRE MQMIDLQTGT PWESVTFTAL GTDRKVFFNI 150
    LEEARELALQ QEEGKTVMYT AVGSEWRPFG YPRRRRPLNS VVLQQGLADR 200
    IVRDVQEFID NPKWYTDRGI PYRRGYLLYG PPGCGKSSFI TALAGELEHS 250
    ICLLSLTDSS LSDDRLNHLL SVAPQQSLVL LEDVDAAFLS RDLAVENPVK 300
    YQGLGRLTFS GLLNALDGVA STEARIVFMT TNHVDRLDPA LIRPGRVDLK 350
    EYVGYCSHWQ LTQMFQRFYP GQAPSLAENF AEHVLRATNQ ISPAQVQGYF 400
    MLYKNDPVGA IHNAESLRR 419
    Length:419
    Mass (Da):47,534
    Last modified:November 1, 1999 - v1
    Checksum:i7F0F98BA62F2CBB8
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti394 – 3941A → T in CAE11877. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351G → R in BJS; with mild mitochondrial complex III deficiency. 1 Publication
    VAR_032086
    Natural varianti45 – 451R → C in MC3DN1. 1 Publication
    VAR_032087
    Natural varianti50 – 501T → A in MC3DN1. 1 Publication
    VAR_064615
    Natural varianti73 – 731R → C in MC3DN1. 1 Publication
    VAR_064616
    Natural varianti78 – 781S → G in GRACILE. 2 Publications
    Corresponds to variant rs28937590 [ dbSNP | Ensembl ].
    VAR_018149
    Natural varianti99 – 991P → L in MC3DN1. 2 Publications
    VAR_018159
    Natural varianti114 – 1141R → W in BJS. 1 Publication
    VAR_032088
    Natural varianti144 – 1441R → Q in GRACILE. 2 Publications
    VAR_018160
    Natural varianti155 – 1551R → P in MC3DN1; abolishes interaction with LETM1. 2 Publications
    VAR_018161
    Natural varianti183 – 1831R → C in MC3DN1; causes a decreased incorporation of the Rieske iron-sulfur protein UQCRFS1 into complex III. 1 Publication
    VAR_064617
    Natural varianti183 – 1831R → H in BJS. 1 Publication
    VAR_032089
    Natural varianti184 – 1841R → 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 Publications
    VAR_032090
    Natural varianti277 – 2771S → N in MC3DN1. 2 Publications
    VAR_018162
    Natural varianti302 – 3021Q → E in BJS. 1 Publication
    VAR_032091
    Natural varianti306 – 3061R → H in BJS. 1 Publication
    VAR_032092
    Natural varianti327 – 3271V → A in GRACILE. 2 Publications
    VAR_018163
    Natural varianti353 – 3531V → M in MC3DN1. 2 Publications
    VAR_018164
    Natural varianti368 – 3681F → I in MC3DN1. 1 Publication
    VAR_064618

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_004319.1. NM_004328.4.
    XP_005246804.1. XM_005246747.2.
    XP_006712741.1. XM_006712678.1.
    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.3. human.

    Polymorphism databases

    DMDMi46397351.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS2419.1.
    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_004319.1. NM_004328.4.
    XP_005246804.1. XM_005246747.2.
    XP_006712741.1. XM_006712678.1.
    UniGenei Hs.471401.

    3D structure databases

    ProteinModelPortali Q9Y276.
    SMRi Q9Y276. Positions 153-398.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107087. 6 interactions.
    IntActi Q9Y276. 3 interactions.
    MINTi MINT-1433080.
    STRINGi 9606.ENSP00000352219.

    PTM databases

    PhosphoSitei Q9Y276.

    Polymorphism databases

    DMDMi 46397351.

    Proteomic databases

    MaxQBi Q9Y276.
    PaxDbi Q9Y276.
    PeptideAtlasi Q9Y276.
    PRIDEi Q9Y276.

    Protocols and materials databases

    DNASUi 617.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000359273 ; ENSP00000352219 ; ENSG00000074582 .
    ENST00000392109 ; ENSP00000375957 ; ENSG00000074582 .
    ENST00000392110 ; ENSP00000375958 ; ENSG00000074582 .
    ENST00000392111 ; ENSP00000375959 ; ENSG00000074582 .
    ENST00000412366 ; ENSP00000406494 ; ENSG00000074582 .
    ENST00000431802 ; ENSP00000413908 ; ENSG00000074582 .
    ENST00000439945 ; ENSP00000404999 ; ENSG00000074582 .
    GeneIDi 617.
    KEGGi hsa:617.
    UCSCi uc002vip.3. human.

    Organism-specific databases

    CTDi 617.
    GeneCardsi GC02P219523.
    HGNCi HGNC:1020. BCS1L.
    HPAi HPA037700.
    HPA037701.
    MIMi 124000. phenotype.
    262000. phenotype.
    603358. phenotype.
    603647. gene.
    neXtProti NX_Q9Y276.
    Orphaneti 123. Bjornstad syndrome.
    53693. GRACILE syndrome.
    1460. Isolated CoQ-cytochrome C reductase deficiency.
    255249. Leigh syndrome with nephrotic syndrome.
    254902. Renal tubulopathy - encephalopathy - liver failure.
    PharmGKBi PA25327.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0465.
    HOGENOMi HOG000198799.
    HOVERGENi HBG048759.
    InParanoidi Q9Y276.
    KOi K08900.
    OMAi AENPVKY.
    PhylomeDBi Q9Y276.
    TreeFami TF315009.

    Enzyme and pathway databases

    Reactomei REACT_118595. Mitochondrial protein import.

    Miscellaneous databases

    GeneWikii BCS1L.
    GenomeRNAii 617.
    NextBioi 2497.
    PROi Q9Y276.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y276.
    Bgeei Q9Y276.
    CleanExi HS_BCS1L.
    Genevestigatori Q9Y276.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR003593. AAA+_ATPase.
    IPR003959. ATPase_AAA_core.
    IPR003960. ATPase_AAA_CS.
    IPR027243. BCS1.
    IPR014851. BCS1_N.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    PANTHERi PTHR23070:SF17. PTHR23070:SF17. 1 hit.
    Pfami PF00004. AAA. 1 hit.
    PF08740. BCS1_N. 1 hit.
    [Graphical view ]
    SMARTi SM00382. AAA. 1 hit.
    SM01024. BCS1_N. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    PROSITEi PS00674. AAA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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."
      Petruzzella V., Tiranti V., Fernandez P., Ianna P., Carrozzo R., Zeviani M.
      Genomics 54:494-504(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Brain.
    2. "A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure."
      de Lonlay P., Valnot I., Barrientos A., Gorbatyuk M., Tzagoloff A., Taanman J.-W., Benayoun E., Chretien D., Kadhom N., Lombes A., Ogier de Baulny H., Niaudet P., Munnich A., Rustin P., Roetig A.
      Nat. Genet. 29:57-60(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS MC3DN1 LEU-99; PRO-155; ASN-277 AND MET-353.
    3. "GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L."
      Visapaeae I., Fellman V., Vesa J., Dasvarma A., Hutton J.L., Kumar V., Payne G.S., Makarow M., Van Coster R., Taylor R.W., Turnbull D.M., Suomalainen A., Peltonen L.
      Am. J. Hum. Genet. 71:863-876(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS GRACILE GLY-78; GLN-144 AND ALA-327.
    4. "Large-scale concatenation cDNA sequencing."
      Yu W., Andersson B., Worley K.C., Muzny D.M., Ding Y., Liu W., Ricafrente J.Y., Wentland M.A., Lennon G., Gibbs R.A.
      Genome Res. 7:353-358(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Small intestine.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Muscle.
    9. "Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L."
      Tamai S., Iida H., Yokota S., Sayano T., Kiguchiya S., Ishihara N., Hayashi J., Mihara K., Oka T.
      J. Cell Sci. 121:2588-2600(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH LETM1, FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT MC3DN1 PRO-155.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene."
      De Meirleir L., Seneca S., Damis E., Sepulchre B., Hoorens A., Gerlo E., Garcia Silva M.T., Hernandez E.M., Lissens W., Van Coster R.
      Am. J. Med. Genet. A 121:126-131(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MC3DN1 CYS-45.
    12. "Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy."
      Fernandez-Vizarra E., Bugiani M., Goffrini P., Carrara F., Farina L., Procopio E., Donati A., Uziel G., Ferrero I., Zeviani M.
      Hum. Mol. Genet. 16:1241-1252(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MC3DN1 CYS-73; CYS-183; CYS-184 AND ILE-368.
    13. Cited for: VARIANTS BJS ARG-35; TRP-114; HIS-183; CYS-184; GLU-302 AND HIS-306, VARIANTS MC3DN1 LEU-99; PRO-155; ASN-277 AND MET-353, VARIANTS GRACILE GLY-78; GLN-144 AND ALA-327.
    14. "Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient."
      Blazquez A., Gil-Borlado M.C., Moran M., Verdu A., Cazorla-Calleja M.R., Martin M.A., Arenas J., Ugalde C.
      Neuromuscul. Disord. 19:143-146(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MC3DN1 ALA-50.

    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: October 1, 2014
    This is version 123 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

    External Data

    Dasty 3