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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 nameGene Name - the full gene name approved by the HGNC.
Caseinolytic mitochondrial matrix peptidase proteolytic subunit
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CLPP
SynonymsGene synonyms aliases
DFNB81, PRLTS3
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
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 IDsOther 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
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
Sequence
Sequence length 277
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term 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, rs776171893, rs774649299, rs766199971, rs1555719766, rs1559484149, rs1562047621, rs754069818, rs778499309, rs1169927428, rs1038744864, rs536853368, rs770440975, rs1575292827, rs1599193093, rs2091852209 23541340, 23851121, 25956234, 26970254, 28604674, 27899912, 27087618, 8543061, 27650058
Unknown
Disease name Disease term dbSNP ID References
Congenital sensorineural hearing loss Congenital sensorineural hearing loss
Gonadal dysgenesis Gonadal dysgenesis XX type deafness 23541340
Hypogonadism Primary hypogonadism
Physiologic amenorrhea Primary physiologic amenorrhea

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