Human Gene CLPP (ENST00000245816.11_13) from GENCODE V47lift37
  Description: caseinolytic mitochondrial matrix peptidase proteolytic subunit (from RefSeq NM_006012.4)
Gencode Transcript: ENST00000245816.11_13
Gencode Gene: ENSG00000125656.12_17
Transcript (Including UTRs)
   Position: hg19 chr19:6,361,542-6,370,253 Size: 8,712 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr19:6,361,586-6,368,721 Size: 7,136 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:6,361,542-6,370,253)mRNA (may differ from genome)Protein (277 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CLPP_HUMAN
DESCRIPTION: RecName: Full=Putative ATP-dependent Clp protease proteolytic subunit, mitochondrial; EC=3.4.21.92; AltName: Full=Endopeptidase Clp; Flags: Precursor;
FUNCTION: Clp cleaves peptides in various proteins in a process that requires ATP hydrolysis. Clp may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates.
CATALYTIC ACTIVITY: 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).
SUBUNIT: Tetradecamer that assembles into a two heptameric rings with a central cavity.
SUBCELLULAR LOCATION: Mitochondrion matrix.
TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle. Intermediate levels in heart, liver and pancreas. Low in brain, placenta, lung and kidney.
SIMILARITY: Belongs to the peptidase S14 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CLPP
Diseases sorted by gene-association score: perrault syndrome 3* (1329), perrault syndrome* (229), deafness , autosomal recessive 86 (12), deafness, autosomal recessive 15 (8), mitochondrial cardiomyopathy (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 67.06 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1432.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.8044-0.359 Picture PostScript Text
3' UTR -532.001532-0.347 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001907 - ClpP
IPR023562 - ClpP/TepA
IPR018215 - ClpP_AS

Pfam Domains:
PF00574 - Clp protease

SCOP Domains:
52096 - ClpP/crotonase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1TG6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q16740
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
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 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity
GO:0042802 identical protein binding

Biological Process:
GO:0006508 proteolysis
GO:0051260 protein homooligomerization
GO:0051603 proteolysis involved in cellular protein catabolic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0009368 endopeptidase Clp complex


-  Descriptions from all associated GenBank mRNAs
  BC002956 - Homo sapiens ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli), mRNA (cDNA clone MGC:1379 IMAGE:3542292), complete cds.
LF385211 - JP 2014500723-A/192714: Polycomb-Associated Non-Coding RNAs.
AK311973 - Homo sapiens cDNA, FLJ92246, highly similar to Homo sapiens ClpP caseinolytic protease, ATP-dependent, proteolyticsubunit homolog (E. coli) (CLPP), nuclear gene encodingmitochondrial protein, mRNA.
Z50853 - H.sapiens mRNA for CLPP.
EF036491 - Homo sapiens ClpP caseinolytic peptidase ATP-dependent, proteolytic subunit mRNA, partial cds.
DQ895823 - Synthetic construct Homo sapiens clone IMAGE:100010283; FLH188003.01L; RZPDo839F06149D ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) (CLPP) gene, encodes complete protein.
EU176368 - Synthetic construct Homo sapiens clone IMAGE:100006472; FLH188010.01X; RZPDo839A12251D ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) (CLPP) gene, encodes complete protein.
LF341771 - JP 2014500723-A/149274: Polycomb-Associated Non-Coding RNAs.
JD112842 - Sequence 93866 from Patent EP1572962.
LF341773 - JP 2014500723-A/149276: Polycomb-Associated Non-Coding RNAs.
JD425682 - Sequence 406706 from Patent EP1572962.
JD425683 - Sequence 406707 from Patent EP1572962.
JD408813 - Sequence 389837 from Patent EP1572962.
JD106616 - Sequence 87640 from Patent EP1572962.
JD145910 - Sequence 126934 from Patent EP1572962.
JD258751 - Sequence 239775 from Patent EP1572962.
JD517501 - Sequence 498525 from Patent EP1572962.
JD116994 - Sequence 98018 from Patent EP1572962.
MA620788 - JP 2018138019-A/192714: Polycomb-Associated Non-Coding RNAs.
MA577348 - JP 2018138019-A/149274: Polycomb-Associated Non-Coding RNAs.
MA577350 - JP 2018138019-A/149276: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B2R4W5, CLPP_HUMAN, ENST00000245816.1, ENST00000245816.10, ENST00000245816.2, ENST00000245816.3, ENST00000245816.4, ENST00000245816.5, ENST00000245816.6, ENST00000245816.7, ENST00000245816.8, ENST00000245816.9, NM_006012, Q16740, uc317erm.1, uc317erm.2
UCSC ID: ENST00000245816.11_13
RefSeq Accession: NM_006012.4
Protein: Q16740 (aka CLPP_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CLPP:
perrault (Perrault Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.