| Type | Description |
|---|---|
| Definition | ClpB homolog, mitochondrial AAA ATPase chaperonin |
| Date | Results | Publications |
|---|---|---|
| 2021-02-20 13:34:00 | Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations. | 32573439 |
| 2020-09-19 11:40:00 | It present for the first time the biochemical characteristics of the human CLPB protein with the aim of shedding light on its physiological function and the pathogenesis of MEGCANN syndrome. | 31917998 |
| 2018-06-09 10:42:00 | The neonatal presentation of CLPB deficiency predicts the course of disease in later life, which is extremely important for counselling. | 28687938 |
| 2016-03-05 10:41:00 | Case Reports: bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. | 25595726 |
| 2016-01-16 12:20:00 | Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria | 25650066 |
| Type | IDs |
|---|---|
| Synonymous | ANKCLB, HSP78, MEGCANN, MGCA7, SKD3 |
| Gene |
UniProtKB-ID:
CLPB_HUMAN,
A0A140VK11_HUMAN
UniprotKB:
Q9H078,
A0A140VK11
UniParc:
UPI000002B3C1,
UPI000204AE05,
UPI0001AE6C09,
UPI0000228F45,
UPI00001359D5
EMBL:
HM005551,
AP003785,
AL136909,
AK302158,
AP000593,
AL834484,
BC006404,
AK302006,
AP002892,
CH471076,
AK023214,
AK302069
Ensembl:
ENSG00000162129
KO:
hsa:81570
|
| Nucleutide sequences |
EMBL-CDS:
CAB66843.1,
BAB14467.1,
BAG63526.1,
BAG63459.1,
BAG63409.1,
AAH06404.1,
CAD39142.1,
EAW74858.1,
AEE61148.1
Gene_ORFName:
hCG_24098
Ensembl_TRS:
ENST00000340729,
ENST00000437826,
ENST00000294053,
ENST00000538039
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000294053,
ENSP00000340385,
ENSP00000407296,
ENSP00000441518
RefSeq:
NP_001245321.1,
XP_005274377.1,
NP_001245323.1,
NP_110440.1,
XP_011543591.1,
NP_001245322.1
|
| Others |
UniRef100:
UniRef100_Q9H078
UniRef90:
UniRef90_Q9H078
UniRef50:
UniRef50_Q9H078
UniGene:
Hs.523877
CCDS:
CCDS58152.1,
CCDS58153.1,
CCDS8215.1,
CCDS58154.1
|
| {{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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