Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
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

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

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
MIRT549553	hsa-miR-4676-5p	PAR-CLIP	21572407
MIRT549552	hsa-miR-575	PAR-CLIP	21572407
MIRT549551	hsa-miR-1265	PAR-CLIP	21572407
MIRT549550	hsa-miR-6890-5p	PAR-CLIP	21572407
MIRT549549	hsa-miR-4716-5p	PAR-CLIP	21572407
MIRT549548	hsa-miR-193b-5p	PAR-CLIP	21572407
MIRT549547	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT549546	hsa-miR-197-3p	PAR-CLIP	21572407
MIRT549545	hsa-miR-3170	PAR-CLIP	21572407
MIRT549544	hsa-miR-6855-5p	PAR-CLIP	21572407
MIRT549543	hsa-miR-5096	PAR-CLIP	21572407
MIRT525175	hsa-miR-6768-5p	PAR-CLIP	22012620
MIRT525174	hsa-miR-4438	PAR-CLIP	22012620
MIRT525173	hsa-miR-3155a	PAR-CLIP	22012620
MIRT525172	hsa-miR-3155b	PAR-CLIP	22012620
MIRT525171	hsa-miR-484	PAR-CLIP	22012620
MIRT525170	hsa-miR-3690	PAR-CLIP	22012620
MIRT525168	hsa-miR-4638-3p	PAR-CLIP	22012620
MIRT525169	hsa-miR-1254	PAR-CLIP	22012620
MIRT525167	hsa-miR-3116	PAR-CLIP	22012620
MIRT525166	hsa-miR-661	PAR-CLIP	22012620
MIRT549555	hsa-miR-5680	PAR-CLIP	21572407
MIRT549554	hsa-miR-6858-3p	PAR-CLIP	21572407
MIRT549553	hsa-miR-4676-5p	PAR-CLIP	21572407
MIRT549552	hsa-miR-575	PAR-CLIP	21572407
MIRT549551	hsa-miR-1265	PAR-CLIP	21572407
MIRT549550	hsa-miR-6890-5p	PAR-CLIP	21572407
MIRT549549	hsa-miR-4716-5p	PAR-CLIP	21572407
MIRT549548	hsa-miR-193b-5p	PAR-CLIP	21572407
MIRT549547	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT549546	hsa-miR-197-3p	PAR-CLIP	21572407
MIRT549545	hsa-miR-3170	PAR-CLIP	21572407
MIRT549544	hsa-miR-6855-5p	PAR-CLIP	21572407
MIRT549543	hsa-miR-5096	PAR-CLIP	21572407
MIRT525175	hsa-miR-6768-5p	PAR-CLIP	22012620
MIRT525174	hsa-miR-4438	PAR-CLIP	22012620
MIRT525173	hsa-miR-3155a	PAR-CLIP	22012620
MIRT525172	hsa-miR-3155b	PAR-CLIP	22012620
MIRT525171	hsa-miR-484	PAR-CLIP	22012620
MIRT525170	hsa-miR-3690	PAR-CLIP	22012620
MIRT525168	hsa-miR-4638-3p	PAR-CLIP	22012620
MIRT525169	hsa-miR-1254	PAR-CLIP	22012620
MIRT525167	hsa-miR-3116	PAR-CLIP	22012620
MIRT525166	hsa-miR-661	PAR-CLIP	22012620
MIRT1966206	hsa-miR-4326	CLIP-seq

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
GO:0004252	Function	Serine-type endopeptidase activity	IDA	11923310
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	11923310, 15522782, 16115876, 32296183, 32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	22354088
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	10525407
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	NAS	15522782
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006508	Process	Proteolysis	IDA	15522782
GO:0006508	Process	Proteolysis	IEA
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IBA
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	TAS	8543061
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009368	Component	Endopeptidase Clp complex	IBA
GO:0009368	Component	Endopeptidase Clp complex	IDA	11923310
GO:0009368	Component	Endopeptidase Clp complex	IPI	15522782
GO:0016787	Function	Hydrolase activity	IEA
GO:0033619	Process	Membrane protein proteolysis	IDA	22354088
GO:0035694	Process	Mitochondrial protein catabolic process	TAS
GO:0042802	Function	Identical protein binding	IEA
GO:0051117	Function	ATPase binding	IBA
GO:0051603	Process	Proteolysis involved in protein catabolic process	IDA	11923310

MIM	HGNC	e!Ensembl
601119	2084	ENSG00000125656

Protein

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

MWPGILVGGARVASCRYPALGPRLAAHFPAQRPPQRTLQNGLALQRCLHATATRALPLIP
IVVEQTGRGERAYDIYSRLLRERIVCVMGPIDDSVASLVIAQLLFLQSESNKKPIHMYIN
SPGGVVTAGLAIYDTMQYILNPICTWCVGQAASMGSLLLAAGTPGMRHSLPNSRIMIHQP
SGGARGQATDIAIQAEEIMKLKKQLYNIYAKHTKQSLQVIESAMERDRYMSPMEAQEFGI
LDKVLVHPPQDGEDEPTLVQKEPVEAAPAAEPVPAST

Sequence length

277

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Perrault Syndrome	perrault syndrome 3	rs398123033, rs398123034, rs398123035, rs1555719766, rs1599193093, rs2091852209	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Infertility	Associate	33073672
Liver Cirrhosis	Associate	30878663
Mitochondrial Diseases	Associate	23541340
Neoplasms	Associate	26675528
Neuroblastoma	Associate	36675163
Pathological Conditions Anatomical	Associate	34943861
Primary Ovarian Insufficiency	Associate	29240891, 33538981
Puberty Delayed	Associate	29240891
Sleep Deprivation	Associate	29240891

CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit)