Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CLPP Gene

Aliases for CLPP Gene

  • Caseinolytic Mitochondrial Matrix Peptidase Proteolytic Subunit 2 3 5
  • Endopeptidase Clp 3 4
  • EC 3.4.21.92 4 61
  • ClpP (Caseinolytic Protease, ATP-Dependent, Proteolytic Subunit, E. Coli) Homolog 2
  • ClpP Caseinolytic Peptidase, ATP-Dependent, Proteolytic Subunit Homolog (E. Coli) 2
  • ClpP Caseinolytic Protease, ATP-Dependent, Proteolytic Subunit Homolog (E. Coli) 2
  • ClpP Caseinolytic Peptidase, ATP-Dependent, Proteolytic Subunit Homolog 3
  • ClpP Caseinolytic Protease, ATP-Dependent, Proteolytic Subunit Homolog 3
  • Putative ATP-Dependent Clp Protease Proteolytic Subunit, Mitochondrial 3
  • ATP-Dependent Protease ClpAP (E. Coli), Proteolytic Subunit, Human 2
  • ClpP Caseinolytic Peptidase ATP-Dependent, Proteolytic Subunit 3
  • ATP-Dependent Clp Protease Proteolytic Subunit, Mitochondrial 3
  • ATP-Dependent Protease ClpAP, Proteolytic Subunit, Human 3
  • DFNB81 3
  • PRLTS3 3

External Ids for CLPP Gene

Previous GeneCards Identifiers for CLPP Gene

  • GC19P006455
  • GC19P006301
  • GC19P006313
  • GC19P006314
  • GC19P006315
  • GC19P006121
  • GC19P006367
  • GC19P006363
  • GC19P006364
  • GC19P006365
  • GC19P006366
  • GC19P006368

Summaries for CLPP Gene

Entrez Gene Summary for CLPP 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 membrane. [provided by RefSeq, Jul 2008]

GeneCards Summary for CLPP Gene

CLPP (Caseinolytic Mitochondrial Matrix Peptidase Proteolytic Subunit) is a Protein Coding gene. Diseases associated with CLPP include Perrault Syndrome 3 and Perrault Syndrome. Among its related pathways are Neuroscience and Glucose / Energy Metabolism. GO annotations related to this gene include identical protein binding and peptidase activity.

UniProtKB/Swiss-Prot for CLPP Gene

  • Protease component of the Clp complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. The Clp complex can degrade CSN1S1, CSN2 and CSN3, as well as synthetic peptides (in vitro) and may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates.

Gene Wiki entry for CLPP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLPP Gene

Genomics for CLPP Gene

Regulatory Elements for CLPP Gene

Enhancers for CLPP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G006198 1.3 ENCODE dbSUPER 12 -161.8 -161770 1.6 HDGF FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF557 CLPP ALKBH7 ENSG00000267571 VMAC SNRPEP4 GTF2F1 SAFB SAFB2 SH2D3A
GH19G006201 1.2 ENCODE dbSUPER 12 -159.5 -159491 0.9 ELF3 FOXA2 ARID4B THRB ZNF48 ZSCAN9 RARA SLC30A9 CREM MIXL1 CLPP ALKBH7 RFX2 LOC105372255 GC19M006213
GH19G006392 1.4 FANTOM5 ENCODE 6.8 +32.3 32323 3.5 HDGF CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SAFB ZNF557 GTF2F1 ENSG00000267571 SNRPEP4 CLPP SLC25A41 LOC390877
GH19G006360 1.1 ENCODE 7.5 +0.8 818 2.8 HDGF ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ENSG00000267571 SNRPEP4 ZNF557 VMAC SAFB SH2D3A RPL36 GTF2F1 CLPP SLC25A41
GH19G006371 1.1 ENCODE 6.9 +11.9 11851 3.4 HDGF PKNOX1 CREB3L1 ARNT AGO1 ZFP64 SIN3A DMAP1 FEZF1 ZNF2 SNRPEP4 GTF2F1 ENSG00000269680 CLPP ALKBH7 PSPN
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CLPP on UCSC Golden Path with GeneCards custom track

Promoters for CLPP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106510 249 1400 HDGF ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207

Genomic Location for CLPP Gene

Chromosome:
19
Start:
6,361,452 bp from pter
End:
6,368,908 bp from pter
Size:
7,457 bases
Orientation:
Plus strand

Genomic View for CLPP Gene

Genes around CLPP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLPP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLPP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLPP Gene

Proteins for CLPP Gene

  • Protein details for CLPP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16740-CLPP_HUMAN
    Recommended name:
    ATP-dependent Clp protease proteolytic subunit, mitochondrial
    Protein Accession:
    Q16740
    Secondary Accessions:
    • B2R4W5

    Protein attributes for CLPP Gene

    Size:
    277 amino acids
    Molecular mass:
    30180 Da
    Quaternary structure:
    • Fourteen CLPP subunits assemble into 2 heptameric rings which stack back to back to give a disk-like structure with a central cavity. Component of the Clp complex formed by the assembly of two CLPP heptameric rings with two CLPX hexameric rings, giving rise to a symmetrical structure with two central CLPP rings flanked by a CLPX ring at either end of the complex.

    Three dimensional structures from OCA and Proteopedia for CLPP Gene

neXtProt entry for CLPP Gene

Selected DME Specific Peptides for CLPP Gene

Q16740:
  • RDRYMSP
  • RGERAYD
  • AIYDTMQ
  • VTAGLAI
  • RIMIHQP
  • DIYSRLLR
  • GLAIYDTM
  • SMGSLLL
  • YINSPGG
  • GQAASMGS
  • LPNSRIMIHQ
  • PIVVEQT
  • TAGLAIYDT
  • IYDTMQY
  • CVGQAAS

Post-translational modifications for CLPP Gene

  • Ubiquitination at posLast=203203
  • Modification sites at PhosphoSitePlus

Other Protein References for CLPP Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CLPP (CLPP)
  • Abcam antibodies for CLPP
  • Santa Cruz Biotechnology (SCBT) Antibodies for CLPP

Domains & Families for CLPP Gene

Gene Families for CLPP Gene

Protein Domains for CLPP Gene

Suggested Antigen Peptide Sequences for CLPP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16740

UniProtKB/Swiss-Prot:

CLPP_HUMAN :
  • Belongs to the peptidase S14 family.
Family:
  • Belongs to the peptidase S14 family.
genes like me logo Genes that share domains with CLPP: view

Function for CLPP Gene

Molecular function for CLPP Gene

GENATLAS Biochemistry:
ATP dependent protease involved in degradation of incorreclly folded or unfolded proteins,catalytic subunit,ClpP E coli homolog,highly expressed in skeletal muscle,heart,liver,pancreas,located in the mitochondrial matrix
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of proteins to small peptides in the presence of ATP and magnesium. Alpha-casein is the usual test substrate. In the absence of ATP, only oligopeptides shorter than five residues are hydrolyzed (such as succinyl-Leu-Tyr- -NHMec; and Leu-Tyr-Leu- -Tyr-Trp, in which cleavage of the -Tyr- -Leu- and -Tyr- -Trp bonds also occurs).
UniProtKB/Swiss-Prot Function:
Protease component of the Clp complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. The Clp complex can degrade CSN1S1, CSN2 and CSN3, as well as synthetic peptides (in vitro) and may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates.

Enzyme Numbers (IUBMB) for CLPP Gene

Gene Ontology (GO) - Molecular Function for CLPP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IDA 11923310
GO:0005515 protein binding IPI 11923310
GO:0008233 peptidase activity TAS,IEA 8543061
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CLPP: view
genes like me logo Genes that share phenotypes with CLPP: view

Human Phenotype Ontology for CLPP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CLPP Gene

MGI Knock Outs for CLPP:
  • Clpp tm1a(EUCOMM)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for CLPP

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CLPP Gene

Localization for CLPP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLPP Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLPP gene
Compartment Confidence
mitochondrion 5
nucleus 1

Gene Ontology (GO) - Cellular Components for CLPP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix IDA,IEA 10525407
GO:0009368 endopeptidase Clp complex IDA 11923310
genes like me logo Genes that share ontologies with CLPP: view

Pathways & Interactions for CLPP Gene

genes like me logo Genes that share pathways with CLPP: view

Pathways by source for CLPP Gene

2 Cell Signaling Technology pathways for CLPP Gene

Gene Ontology (GO) - Biological Process for CLPP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0051260 protein homooligomerization IEA --
GO:0051603 proteolysis involved in cellular protein catabolic process IDA 11923310
genes like me logo Genes that share ontologies with CLPP: view

No data available for SIGNOR curated interactions for CLPP Gene

Drugs & Compounds for CLPP Gene

(3) Drugs for CLPP Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Formylmethionine Experimental Pharma Target 0
Magnesium Nutra 0
genes like me logo Genes that share compounds with CLPP: view

Transcripts for CLPP Gene

Unigene Clusters for CLPP Gene

ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLPP Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b
SP1: - - -
SP2: -
SP3: - -
SP4:
SP5: -

Relevant External Links for CLPP Gene

GeneLoc Exon Structure for
CLPP
ECgene alternative splicing isoforms for
CLPP

Expression for CLPP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLPP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CLPP Gene

This gene is overexpressed in Nasal epithelium (11.0) and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CLPP Gene



Protein tissue co-expression partners for CLPP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLPP Gene:

CLPP

SOURCE GeneReport for Unigene cluster for CLPP Gene:

Hs.515092

mRNA Expression by UniProt/SwissProt for CLPP Gene:

Q16740-CLPP_HUMAN
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.

Evidence on tissue expression from TISSUES for CLPP Gene

  • Muscle(4.5)
  • Liver(4.4)
  • Lung(2.9)
  • Intestine(2.2)
  • Nervous system(2.2)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CLPP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CLPP: view

Primer Products

No data available for mRNA differential expression in normal tissues for CLPP Gene

Orthologs for CLPP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CLPP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLPP 34 35
  • 98.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CLPP 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLPP 34 35
  • 90.2 (n)
cow
(Bos Taurus)
Mammalia CLPP 34 35
  • 89.67 (n)
mouse
(Mus musculus)
Mammalia Clpp 34 16 35
  • 83.66 (n)
rat
(Rattus norvegicus)
Mammalia Clpp 34
  • 81.45 (n)
lizard
(Anolis carolinensis)
Reptilia CLPP 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clpp 34
  • 73.48 (n)
Str.5533 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11723 34
zebrafish
(Danio rerio)
Actinopterygii clpp 34 35
  • 72.83 (n)
wufj37a05 34
fruit fly
(Drosophila melanogaster)
Insecta CG5045 36 34 35
  • 68.16 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009019 34
  • 67.61 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK970.2 36
  • 65 (a)
clpp-1 34 35
  • 55.19 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NCLPP7 34
  • 58 (n)
rice
(Oryza sativa)
Liliopsida Os02g0634500 34
  • 68.01 (n)
Os.4948 34
wheat
(Triticum aestivum)
Liliopsida Ta.9277 34
corn
(Zea mays)
Liliopsida Zm.16493 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3464 35
  • 61 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4342 34
Species where no ortholog for CLPP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CLPP Gene

ENSEMBL:
Gene Tree for CLPP (if available)
TreeFam:
Gene Tree for CLPP (if available)

Paralogs for CLPP Gene

No data available for Paralogs for CLPP Gene

Variants for CLPP Gene

Sequence variations from dbSNP and Humsavar for CLPP Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs398123033 Pathogenic, Perrault syndrome 3 (PRLTS3) [MIM:614129] 6,364,517(+) TCTGC(A/C)CCTGG reference, missense
rs398123034 Pathogenic, Perrault syndrome 3 (PRLTS3) [MIM:614129] 6,364,524(+) CTGGT(A/C/G)CGTGG reference, missense
VAR_074160 Perrault syndrome 3 (PRLTS3) [MIM:614129]
rs398123035 Pathogenic 6,361,944(+) CGGTG(A/G)GCGCC intron-variant, upstream-variant-2KB
rs371120549 Likely benign 6,364,654(+) AGACA(C/T)GCGAG intron-variant

Variation tolerance for CLPP Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.14; 3.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLPP Gene

Human Gene Mutation Database (HGMD)
CLPP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLPP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CLPP Gene

Disorders for CLPP Gene

MalaCards: The human disease database

(5) MalaCards diseases for CLPP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
perrault syndrome 3
  • prlts3
perrault syndrome
  • gonadal dysgenesis, xx type
deafness , autosomal recessive 86
  • autosomal recessive nonsyndromic deafness 86
legionaire disease
  • legionnaires' disease
deafness, autosomal recessive 15
  • autosomal recessive nonsyndromic deafness 15
- elite association - COSMIC cancer census association via MalaCards
Search CLPP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLPP_HUMAN
  • Perrault syndrome 3 (PRLTS3) [MIM:614129]: A sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some PRLTS3 affected individuals. {ECO:0000269 PubMed:23541340, ECO:0000269 PubMed:25956234}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CLPP

Genetic Association Database (GAD)
CLPP
Human Genome Epidemiology (HuGE) Navigator
CLPP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLPP
genes like me logo Genes that share disorders with CLPP: view

No data available for Genatlas for CLPP Gene

Publications for CLPP Gene

  1. Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene. (PMID: 8543061) Bross P. … Gregersen N. (FEBS Lett. 1995) 2 3 4 22 64
  2. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3. (PMID: 25956234) Ahmed S. … Al-Aama J.Y. (J. Neurol. Sci. 2015) 3 4 64
  3. Human CLPP reverts the longevity phenotype of a fungal ClpP deletion strain. (PMID: 23360988) Fischer F. … Osiewacz H.D. (Nat Commun 2013) 2 3 64
  4. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. (PMID: 23541340) Jenkinson E.M. … Newman W.G. (Am. J. Hum. Genet. 2013) 3 4 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for CLPP Gene

Sources for CLPP Gene

Content
Loading form....