Free for academic non-profit institutions. Other users need a Commercial license
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. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]
BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone) is a Protein Coding gene. Diseases associated with BCS1L include Gracile Syndrome and Bjornstad Syndrome. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. Gene Ontology (GO) annotations related to this gene include RNA binding and RNA helicase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 18628306 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,IDA | 18628306 |
GO:0005743 | mitochondrial inner membrane | IEA,IBA | 21873635 |
GO:0005750 | mitochondrial respiratory chain complex III | TAS | 9878253 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | Mitochondrial protein import |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007005 | mitochondrion organization | IMP | 18628306 |
GO:0032979 | protein insertion into mitochondrial inner membrane from matrix side | IBA | 21873635 |
GO:0032981 | mitochondrial respiratory chain complex I assembly | IMP | 18628306 |
GO:0033617 | mitochondrial respiratory chain complex IV assembly | IMP | 18628306 |
GO:0034551 | mitochondrial respiratory chain complex III assembly | IEA,IMP | 18628306 |
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: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - |
ExUns: | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11a | · | 11b |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | |||||||||||
SP3: | |||||||||||
SP4: | |||||||||||
SP5: | |||||||||||
SP6: | |||||||||||
SP7: | |||||||||||
SP8: | |||||||||||
SP9: | |||||||||||
SP10: | |||||||||||
SP11: | |||||||||||
SP12: | |||||||||||
SP13: | |||||||||||
SP14: | |||||||||||
SP15: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BCS1L 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BCS1L 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BCS1L 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bcs1l 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bcs1l 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | BCS1L 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BCS1L 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BCS1L 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bcs1l 30 |
|
||
Str.11802 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | bcs1l-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bcs1l 30 31 |
|
OneToOne | |
zgc56205 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.13409 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004266 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4908 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | bcs-1 30 31 |
|
OneToOne | |
F54C9.6 32 |
|
|
|||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACR200C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BCS1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E02487g 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC644.07 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8680 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
625208 | Likely Pathogenic: Microcephaly; Intellectual disability; Sparse hair; Intellectual disability, severe; Movement disorder | 218,661,816(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
646751 | Pathogenic: not provided | 218,661,515(+) | C/T | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
649381 | Pathogenic: not provided | 218,661,949(+) | CAG/C | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
666615 | Benign/Likely Benign: not specified; not provided | 218,662,565(+) | T/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
666656 | Conflicting Interpretations: Leigh syndrome; GRACILE syndrome; Mitochondrial complex III deficiency, nuclear type 1; not specified; not provided | 218,662,993(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
gracile syndrome |
|
|
bjornstad syndrome |
|
|
mitochondrial complex iii deficiency, nuclear type 1 |
|
|
leigh syndrome |
|
|
isolated complex iii deficiency |
|
|