CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 8192
Gene name Caseinolytic mitochondrial matrix peptidase proteolytic subunit
Gene symbol CLPP
Synonyms (NCBI Gene)
DFNB81PRLTS3
Chromosome 19
Chromosome location 19p13.3
Summary 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.
4
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.
50
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IDA 22354088
GO:0004176 Function ATP-dependent peptidase activity IBA
GO:0004176 Function ATP-dependent peptidase activity IEA
GO:0004176 Function ATP-dependent peptidase activity TAS
GO:0004252 Function Serine-type endopeptidase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601119 2084 ENSG00000125656
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive hearing impairment with normal menstrual cycles Pathogenic rs398123035 RCV000201253
Perrault syndrome Pathogenic rs398123033, rs398123034, rs398123035 RCV002513675
RCV002513676
RCV002513677
Perrault syndrome 1 Pathogenic rs2512444496 RCV003328548
Perrault syndrome 3 Likely pathogenic; Pathogenic rs2145048931, rs756490492, rs780624187, rs1555719766, rs398123033, rs398123034, rs398123035, rs1599193093, rs2091852209 RCV001806386
RCV005051999
RCV003335958
RCV000656488
RCV000049282
RCV000049283
RCV000049284
RCV001004790
RCV001201399
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CLPP-related disorder Benign; Likely benign; Uncertain significance rs114453881, rs375563974, rs143053584, rs369061871, rs113472530, rs1319249207, rs1310040955, rs1322981852, rs746981582, rs750196166 RCV004757470
RCV003917892
RCV003937801
RCV003966648
RCV003929323
RCV003896280
RCV003939421
RCV003947233
RCV003945705
RCV003958074
Familial cancer of breast Likely benign rs112436446 RCV005915081
Melanoma - rs2145053028 RCV005930073
Ovarian serous cystadenocarcinoma Uncertain significance; Likely benign rs761391026, rs776448958 RCV005924089
RCV005928370
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
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