| Type | Description |
|---|---|
| Definition | BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
| Date | Results | Publications |
|---|---|---|
| 2020-06-20 12:40:00 | Data support the pathogenicity of the novel BCS1L variants identified in our patients. | 31435670 |
| 2020-04-18 10:04:00 | We propose a change in nomenclature that unifies the intermediate phenotype under "BCS1L Mitopathies". Patterns in genotype-phenotype correlations within these BCS1L Mitopathies are evident in the context of the tertiary and quaternary structure of BCS1L. | 30582773 |
| 2018-10-20 10:38:00 | The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation. | 30226971 |
| 2017-05-13 19:23:00 | We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L | 28322498 |
| 2016-12-24 11:16:00 | * Description of a novel homozygous mutation in BCS1L with transient neonatal acidosis and persistent de Toni-Debre-Fanconi-type tubulopathy. * The long survival of patients with phenotypic presentation of severe complex III deficiency is uncommon. | 26563427 |
| Type | IDs |
|---|---|
| Synonymous | BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1 |
| Gene |
UniProtKB-ID:
BCS1_HUMAN,
A8JZZ8_HUMAN,
A0A024R445_HUMAN
UniprotKB:
Q9Y276,
A8JZZ8,
A0A024R445
UniParc:
UPI0000073C9C,
UPI00015DA47B
EMBL:
AK096210,
KU177941,
AF026849,
AF038195,
BX571752,
CH471063,
BC000416,
AF516670,
BC007500,
AF346835,
AK289363
Ensembl:
ENSG00000074582
KO:
hsa:617
|
| Nucleutide sequences |
EMBL-CDS:
AAK29417.1,
AAH07500.1,
AAB97365.1,
AAH00416.1,
EAW70634.1,
BAG53231.1,
AAD08638.1,
CAE11877.1,
AAN05490.1,
BAF82052.1,
EAW70635.1,
EAW70638.1,
EAW70636.1,
EAW70640.1,
EAW70639.1,
EAW70637.1,
ALQ33399.1
Gene_ORFName:
hCG_16303
Ensembl_TRS:
ENST00000392110,
ENST00000359273,
ENST00000412366,
ENST00000439945,
ENST00000392109,
ENST00000392111,
ENST00000431802
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000406494,
ENSP00000375958,
ENSP00000375957,
ENSP00000404999,
ENSP00000352219,
ENSP00000375959,
ENSP00000413908
RefSeq:
NP_001358375.1,
NP_001358381.1,
NP_001358377.1,
NP_001305765.1,
NP_004319.1,
NP_001358380.1,
NP_001358383.1,
NP_001244271.1,
NP_001244273.1,
NP_001358378.1,
NP_001307646.1,
NP_001358384.1,
NP_001358376.1,
NP_001358373.1,
NP_001073335.1,
NP_001358382.1,
NP_001358372.1,
NP_001358385.1,
NP_001244272.1,
NP_001361014.1,
NP_001358379.1,
NP_001361015.1
|
| Others |
UniRef100:
UniRef100_A8JZZ8,
UniRef100_Q9Y276
UniRef90:
UniRef90_Q9Y276
UniRef50:
UniRef50_Q9Y276
UniGene:
Hs.471401
CCDS:
CCDS2419.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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