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Q9Y276

- BCS1_HUMAN

UniProt

Q9Y276 - BCS1_HUMAN

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Protein
Mitochondrial chaperone BCS1
Gene
BCS1L, BCS1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi230 – 2378ATP Reviewed prediction

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
Complete GO annotation...

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; Single-pass membrane protein 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1515Mitochondrial intermembrane Reviewed prediction
Add
BLAST
Transmembranei16 – 3217Helical; Reviewed prediction
Add
BLAST
Topological domaini33 – 419387Mitochondrial matrix Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
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. 3 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 BCS1
PRO_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.

Family & Domainsi

Sequence similaritiesi

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

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. 3 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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti394 – 3941A → T in CAE11877. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 122 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

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