• Gene id: 8192

Gene Summary

• Gene Symbol: CLPP   Gene   UCSC   Ensembl
• Aliases: DFNB81, PRLTS3
• Gene name: caseinolytic mitochondrial matrix peptidase proteolytic subunit
• Alternate names: ATP-dependent Clp protease proteolytic subunit, mitochondrial, ATP-dependent protease ClpAP, proteolytic subunit, human, ClpP caseinolytic peptidase ATP-dependent, proteolytic subunit, ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog, C,
• Gene location: 19p13.3 (6361530: 6370241)     Exons: 6     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 601119

Protein Summary

• Protein general information: Q16740  
  • Name: ATP dependent Clp protease proteolytic subunit, mitochondrial (EC 3.4.21.92) (Endopeptidase Clp)
  • Length: 277  
  • Mass: 30180
  • 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
• Sequence:

  MWPGILVGGARVASCRYPALGPRLAAHFPAQRPPQRTLQNGLALQRCLHATATRALPLIPIVVEQTGRGERAYDI
  YSRLLRERIVCVMGPIDDSVASLVIAQLLFLQSESNKKPIHMYINSPGGVVTAGLAIYDTMQYILNPICTWCVGQ
  AASMGSLLLAAGTPGMRHSLPNSRIMIHQPSGGARGQATDIAIQAEEIMKLKKQLYNIYAKHTKQSLQVIESAME
  RDRYMSPMEAQEFGILDKVLVHPPQDGEDEPTLVQKEPVEAAPAAEPVPAST

• Structural information:
  • Interpro: IPR001907  IPR029045  IPR023562  IPR033135  IPR018215  
  • Prosite: PS00382 PS00381
  • CDD: cd07017
  • PDB: 1TG6 6BBA 6DL7 6H23
  • PDBsum: 1TG6 6BBA 6DL7 6H23
  • DIP: 50384
  • STRING: ENSP00000245816
• Other Databases: GeneCards:  CLPP  Malacards:  CLPP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0009368	endopeptidase Clp complex	IBA	cellular component
GO:0004176	ATP-dependent peptidase activity	IBA	molecular function
GO:0006515	protein quality control for misfolded or incompletely synthesized proteins	IBA	biological process
GO:0051117	ATPase binding	IBA	molecular function
GO:0051603	proteolysis involved in cellular protein catabolic process	IDA	biological process
GO:0009368	endopeptidase Clp complex	IDA	cellular component
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0008233	peptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0033619	membrane protein proteolysis	IDA	biological process
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Perrault syndrome	KEGG:H02095
Perrault syndrome	KEGG:H02095
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray