CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit)

2007-02-01  

Identity

HGNC
LOCATION
19p13.3
LOCUSID
ALIAS
DFNB81,PRLTS3

Other Information

Locus ID:

NCBI: 8192
MIM: 601119
HGNC: 2084
Ensembl: ENSG00000125656

Variants:

dbSNP: 8192
ClinVar: 8192
TCGA: ENSG00000125656
COSMIC: CLPP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125656ENST00000245816Q16740
ENSG00000125656ENST00000596149M0R208
ENSG00000125656ENST00000596605M0QXE9
ENSG00000125656ENST00000597326M0QYV5
ENSG00000125656ENST00000646643A0A2R8YEF5

Expression (GTEx)

0
50
100
150
200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
235413402013Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.62
250838742014Stochastic but highly coordinated protein unfolding and translocation by the ClpXP proteolytic machine.48
155227822004Crystallography and mutagenesis point to an essential role for the N-terminus of human mitochondrial ClpP.31
271544002016Loss of CLPP alleviates mitochondrial cardiomyopathy without affecting the mammalian UPRmt.29
183780942008Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).27
161158762005Human mitochondrial ClpP is a stable heptamer that assembles into a tetradecamer in the presence of ClpX.25
273895352016The Mitochondrial Unfoldase-Peptidase Complex ClpXP Controls Bioenergetics Stress and Metastasis.24
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
269702542017Expanding the genotypic spectrum of Perrault syndrome.17
233609882013Human CLPP reverts the longevity phenotype of a fungal ClpP deletion strain.12

Citation

Dessen P

CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46585/clpp