CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8192
Gene name Gene Name - the full gene name approved by the HGNC.
Caseinolytic mitochondrial matrix peptidase proteolytic subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLPP
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB81, PRLTS3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PRLTS3
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial memb
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs398123033 A>C,G Pathogenic Coding sequence variant, missense variant
rs398123034 G>A,C Pathogenic Coding sequence variant, missense variant
rs909909437 T>C Pathogenic Splice donor variant
rs1555719766 C>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(50)
miRTarBase ID miRNA Experiments Reference
MIRT022076 hsa-miR-128-3p Microarray 17612493
MIRT039835 hsa-miR-615-3p CLASH 23622248
MIRT039835 hsa-miR-615-3p CLASH 23622248
MIRT549555 hsa-miR-5680 PAR-CLIP 21572407
MIRT549554 hsa-miR-6858-3p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IDA 22354088
GO:0004176 Function ATP-dependent peptidase activity IBA 21873635
GO:0004252 Function Serine-type endopeptidase activity IBA 21873635
GO:0004252 Function Serine-type endopeptidase activity IDA 11923310
GO:0005515 Function Protein binding IPI 11923310, 16115876, 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601119 2084 ENSG00000125656
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q16740
Protein name ATP-dependent Clp protease proteolytic subunit, mitochondrial (EC 3.4.21.92) (Caseinolytic mitochondrial matrix peptidase proteolytic subunit) (Endopeptidase Clp)
Protein function Protease component of the ClpXP complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. The ClpXP complex can degrade CSN1S1, CSN2 and CSN3, as well as synthetic peptides
PDB 1TG6 , 6BBA , 6DL7 , 6H23 , 7UVM , 7UVN , 7UVR , 7UVU , 7UW0 , 7VP9 , 7WH5 , 8HGK , 8I7X , 8W7C , 8W7E , 8WUZ , 8YLB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00574 CLP_protease 67 → 248 Clp protease Domain
Tissue specificity TISSUE SPECIFICITY: Detected in liver (at protein level). Predominantly expressed in skeletal muscle. Intermediate levels in heart, liver and pancreas. Low in brain, placenta, lung and kidney. {ECO:0000269|PubMed:10525407, ECO:0000269|PubMed:8543061}.
Sequence
Sequence length 277
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Perrault syndrome PERRAULT SYNDROME 3, Perrault syndrome rs397515410, rs398123033, rs398123034, rs398123035, rs199589947, rs398123036, rs398123037, rs587777443, rs786205560, rs786205574, rs775766910, rs864309643, rs376177973, rs201392711, rs1131692170
View all (15 more)		 23541340, 23851121, 25956234, 26970254, 28604674, 27899912, 27087618, 8543061, 27650058
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Perrault Syndrome Perrault syndrome GenCC
Alzheimer disease Alzheimer disease GWAS
Show/Hide Text Mining Associations (19)
Associations from Text Mining
Disease Name Relationship Type References
Amenorrhea Associate 29240891
Azoospermia Associate 29240891
Developmental Disabilities Associate 38454547
Genetic Diseases Inborn Associate 28178980
Glioblastoma Associate 35417530
Glioma Associate 38386699
Gonadal Dysgenesis Associate 29240891
Gonadal dysgenesis XX type deafness Associate 23541340, 26657938, 27087618, 38454547
Hearing Loss Associate 32842620, 33073672, 38454547
Hearing Loss Sensorineural Associate 34943861