CLPB (caseinolytic mitochondrial matrix peptidase chaperone subunit B)

2016-10-01  

Identity

HGNC
CLPB
LOCATION
11q13.4
LOCUSID
81570
ALIAS
ANKCLB,HSP78,MEGCANN,MGCA7,SKD3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382705632024CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex.0
382705632024CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex.0
367456792023Comprehensive structural characterization of the human AAA+ disaggregase CLPB in the apo- and substrate-bound states reveals a unique mode of action driven by oligomerization.3
367456792023Comprehensive structural characterization of the human AAA+ disaggregase CLPB in the apo- and substrate-bound states reveals a unique mode of action driven by oligomerization.3
341158422022Heterozygous variants of CLPB are a cause of severe congenital neutropenia.16
360749102022Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.6
341158422022Heterozygous variants of CLPB are a cause of severe congenital neutropenia.16
360749102022Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.6
341406612021Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.14
341406612021Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.14
319179982020CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease.9
325734392020Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations.34
328666872020Human CLPB forms ATP-dependent complexes in the mitochondrial intermembrane space.9
319179982020CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease.9
325734392020Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations.34

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-(caseinolytic-mitochondrial-matrix-peptidase-chaperone-subunit-b)