CLPB (caseinolytic mitochondrial matrix peptidase chaperone subunit B)

2016-10-01  

Identity

HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
ANKCLB,HSP78,MEGCANN,MGCA7,SKD3
FUSION GENES

Other Information

Locus ID:

NCBI: 81570
MIM: 616254
HGNC: 30664
Ensembl: ENSG00000162129

Variants:

dbSNP: 81570
ClinVar: 81570
TCGA: ENSG00000162129
COSMIC: CLPB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162129ENST00000294053Q9H078
ENSG00000162129ENST00000294053A0A140VK11
ENSG00000162129ENST00000340729Q9H078
ENSG00000162129ENST00000437826Q9H078
ENSG00000162129ENST00000535477F5GX99
ENSG00000162129ENST00000535990H0YGM0
ENSG00000162129ENST00000536297H0YG50
ENSG00000162129ENST00000538021F6SS08
ENSG00000162129ENST00000538039Q9H078
ENSG00000162129ENST00000539148F5H392
ENSG00000162129ENST00000542555A0A2R8Y7E8
ENSG00000162129ENST00000543042A0A2U3TZY2
ENSG00000162129ENST00000544683F5H7A5
ENSG00000162129ENST00000642187A0A2R8YDH5
ENSG00000162129ENST00000642288A0A2R8Y602
ENSG00000162129ENST00000646117A0A2R8Y6R5

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Longevity regulating pathway - multiple speciesKEGGko04213
Longevity regulating pathway - multiple speciesKEGGhsa04213

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
184880422008Protein disaggregation by the AAA+ chaperone ClpB involves partial threading of looped polypeptide segments.55
196987132009DnaK-mediated association of ClpB to protein aggregates. A bichaperone network at the aggregate surface.31
255975102015CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
255975112015CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.10
255957262015Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.9
252884012014ClpB chaperone passively threads soluble denatured proteins through its central pore.8
256500662015Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.5
286879382017A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.3

Citation

Dessen P

CLPB (caseinolytic mitochondrial matrix peptidase chaperone subunit B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56169/clpb