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CLPP Gene

protein-coding   GIFtS: 64
GCID: GC19P006367

Caseinolytic Mitochondrial Matrix Peptidase Proteolytic...

(Previous names: ClpP (caseinolytic protease, ATP-dependent, proteolytic...)
  See CLPP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Caseinolytic Mitochondrial Matrix Peptidase Proteolytic Subunit1 2     human1
Endopeptidase Clp2 3     Proteolytic Subunit1
EC 3.4.21.923 8     ATP-Dependent Protease ClpAP, Proteolytic Subunit, Human2
PRLTS32 5     ClpP Caseinolytic Peptidase ATP-Dependent, Proteolytic Subunit2
ATP-Dependent Protease ClpAP (E. Coli)1     ClpP Caseinolytic Peptidase, ATP-Dependent, Proteolytic Subunit Homolog2
ClpP (Caseinolytic Protease, ATP-Dependent, Proteolytic Subunit, E. Coli)
Homolog1
     ClpP Caseinolytic Protease, ATP-Dependent, Proteolytic Subunit Homolog2
ClpP Caseinolytic Peptidase, ATP-Dependent, Proteolytic Subunit Homolog
(E. Coli)1
     Putative ATP-Dependent Clp Protease Proteolytic Subunit, Mitochondrial2
ClpP Caseinolytic Protease, ATP-Dependent, Proteolytic Subunit Homolog (E.
Coli)1
     

External Ids:    HGNC: 20841   Entrez Gene: 81922   Ensembl: ENSG000001256567   OMIM: 6011195   UniProtKB: Q167403   

Export aliases for CLPP gene to outside databases

Previous GC identifers: GC19P006455 GC19P006301 GC19P006313 GC19P006314 GC19P006315 GC19P006121


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 1. GO annotations related to this gene include peptidase activity and serine-type endopeptidase activity.

UniProtKB/Swiss-Prot: CLPP_HUMAN, Q16740
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

Gene Wiki entry for CLPP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLPP gene promoter:
         Bach1   Elk-1   AML1a   SREBP-1c   C/EBPalpha   YY1   SREBP-1b   GATA-1   PPAR-alpha   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLPP promoter sequence
   Search Chromatin IP Primers for CLPP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLPP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

CLPP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLPP gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P006367:  view genomic region     (about GC identifiers)

Start:
6,361,463 bp from pter      End:
6,368,919 bp from pter
Size:
7,457 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CLPP_HUMAN, Q16740 (See protein sequence)
Recommended Name: Putative ATP-dependent Clp protease proteolytic subunit, mitochondrial precursor  
Size: 277 amino acids; 30180 Da
Subunit: Tetradecamer that assembles into a two heptameric rings with a central cavity
1 PDB 3D structure from and Proteopedia for CLPP:
1TG6 (3D)    
Secondary accessions: B2R4W5

Explore the universe of human proteins at neXtProt for CLPP: NX_Q16740

Explore proteomics data for CLPP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys203
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CLPP (Q16740) (see all 15)
     PIVVEQT  YINSPGG  AIYDTMQ  RIMIHQP 


    See CLPP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006003.1  
    ENSEMBL proteins: 
     ENSP00000245816   ENSP00000470098   ENSP00000472227   ENSP00000469124  

    CLPP Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AATP: ATPases / AAA-type

    3 InterPro protein domains:
     IPR001907 ClpP
     IPR018215 ClpP_AS
     IPR023562 ClpP/TepA

    Graphical View of Domain Structure for InterPro Entry Q16740

    ProtoNet protein and cluster: Q16740

    1 Blocks protein domain: IPB001907 Clp protease

    UniProtKB/Swiss-Prot: CLPP_HUMAN, Q16740
    Similarity: Belongs to the peptidase S14 family


    Find genes that share domains with CLPP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLPP_HUMAN, Q16740
    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)

         Genatlas biochemistry entry for CLPP:
    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

         Enzyme Number (IUBMB): EC 3.4.21.921 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IDA11923310
    GO:0005515protein binding IPI11923310
    GO:0005524ATP binding IEA--
    GO:0008233peptidase activity TAS8543061
    GO:0042802identical protein binding IEA--
         
    Find genes that share ontologies with CLPP           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CLPP:
     Decreased POU5F1-GFP protein e 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Clpp):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     immune system  integument  mortality/aging  reproductive system 

    Find genes that share phenotypes with CLPP           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLPP
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CLPP
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    miRNA
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    miRTarBase miRNAs that target CLPP:
    hsa-mir-128-3p (MIRT022076), hsa-mir-615-3p (MIRT039835)

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    5 qRT-PCR Assays for microRNAs that regulate CLPP:
    hsa-miR-27a hsa-miR-128 hsa-miR-32* hsa-miR-3681* hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmidCLPP 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CLPP_HUMAN, Q16740: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    chloroplast3
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix IDA10525407
    GO:0009368endopeptidase Clp complex IDA11923310

    Find genes that share ontologies with CLPP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CLPP
    Interactions:

        GeneGlobe Interaction Network for CLPP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for CLPP (Q167403 ENSP000002458164) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C20orf24Q9BUV83, ENSP000003412134I2D: score=1 STRING: ENSP00000341213
    GH1P012413, ENSP000003126734I2D: score=1 STRING: ENSP00000312673
    SAP18O004223, ENSP000003719734I2D: score=1 STRING: ENSP00000371973
    CLPXO760313, ENSP000003001074I2D: score=3 STRING: ENSP00000300107
    ATG5Q9H1Y03I2D: score=5 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0051260protein homooligomerization IEA--
    GO:0051603proteolysis involved in cellular protein catabolic process IDA11923310

    Find genes that share ontologies with CLPP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CLPP

    1 HMDB Compound for CLPP    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    1 DrugBank Compound for CLPP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-Formylmethionine-- --target--10592235

    1 Novoseek inferred chemical compound relationship for CLPP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 37.5 2 8639751 (1), 9390554 (1)



    Find genes that share compounds with CLPP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CLPP gene: 
    NM_006012.2  

    Unigene Cluster for CLPP:

    ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)
    Hs.515092  [show with all ESTs]
    Unigene Representative Sequence: BQ876313
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000245816(uc002mem.1) ENST00000596070 ENST00000594780 ENST00000597326
    ENST00000596149 ENST00000596605
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate CLPP:
    hsa-miR-27a hsa-miR-128 hsa-miR-32* hsa-miR-3681* hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmidCLPP 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CLPP
      QuantiFast Probe-based Assays in human, mouse, rat CLPP

    Additional mRNA sequence: 

    AK311973.1 BC002956.1 EF036491.1 Z50853.1 

    7 DOTS entries:

    DT.218708  DT.100814587  DT.92436904  DT.92436920  DT.86853291  DT.95137087  DT.100834982 

    Selected AceView cDNA sequences (see all 294):

    BM980252 AW043864 CB131030 BU169864 BE378323 BE269067 CR595775 BQ276434 
    BX345961 BE279794 AW026214 BM552091 AI648452 CD742849 BM990308 BM702583 
    CF128020 AW051308 BQ434163 BG744414 AI524318 CR626690 BM905682 BM974899 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CLPP    About this scheme

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


    ECgene alternative splicing isoforms for CLPP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CLPP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAGGGGCC
    CLPP Expression
    About this image


    CLPP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Dental pulp stem cells
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    CLPP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLPP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515092

    UniProtKB/Swiss-Prot: CLPP_HUMAN, Q16740
    Tissue specificity: Predominantly expressed in skeletal muscle. Intermediate levels in heart, liver and pancreas.
    Low in brain, placenta, lung and kidney

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    QuantiFast Probe-based Assays in human, mouse, rat CLPP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLPP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CLPP gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clpp1 , 5 caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) less5
    ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit less1
    83.66(n)1
    90.98(a)1
      17 (29.61 cM)5
    538951  NM_017393.21  NP_059089.11 
     569902645 
    lizard
    (Anolis carolinensis)
    Reptilia CLPP6
    caseinolytic mitochondrial matrix peptidase proteo...
    77(a)
    1 ↔ 1
    2(76547511-76562658)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.117232 Xenopus laevis transcribed sequence with moderate similarity to protein pirS68421 (H.sapiens) S68421 ATP-dependent clp proteinase (EC 3.4.21.-) chain P - human less 77.07(n)    BJ071154.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj37a052 Transcribed sequence with moderate similarity to protein pirS68421 (H.sapiens) S68421 ATP-dependent clp proteinase (EC 3.4.21.-) chain P - human less 79.39(n)    CK238663.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50451 , 3 endopeptidase Clp3
    CG50451
    70(a)3
    68.16(n)1
    70.65(a)1
      31D103
    344021  NM_001273403.11  NP_001260332.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK970.23
    clpp-11
    CLPP-like protease3
    clpp-11
    65(a)3
    55.19(n)1
    59.91(a)1
      II(10300153-10302691)3
    1745941  NM_001267310.11  NP_001254239.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NCLPP71 NCLPP7 58(n)
    60(a)
      832378  NM_122220.4  NP_568427.1 
    rice
    (Oryza sativa)
    Liliopsida Os.49482 Oryza sativa (japonica cultivar-group) cDNA cloneJ013002C05, full insert sequence less 76.53(n)    AK062167.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CLPP (see all 270)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0700934
    Perrault syndrome 3 (PRLTS3)4--see VAR_0700932 C S mis40--------
    VAR_0700924
    Perrault syndrome 3 (PRLTS3)4--see VAR_0700922 T P mis40--------
    rs1910546031,2
    --6359490(+) ATGCCA/GAGATA 1 -- us2k10--------
    rs782423881,2
    --6359629(+) ACCTCA/GCCTGA 1 -- us2k10--------
    rs735618641,2
    C,F--6359661(+) TGCCCC/TGGGAA 1 -- us2k13Minor allele frequency- T:0.06WA CSA 122
    rs1832872951,2
    --6359662(+) GCCCCA/GGGAAA 1 -- us2k10--------
    rs126094131,2
    C,H--6359721(+) GACTTA/CTCAGA 1 -- us2k10--------
    rs1145585791,2
    C,F--6359748(+) TCTAAC/TACAGC 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs126094251,2
    C,H--6359801(+) CCTTTC/TTGAGG 1 -- us2k12Minor allele frequency- T:0.00NA 4
    rs1168988871,2
    C,F--6359806(+) CTGAGG/AACTTT 1 -- us2k11Minor allele frequency- A:0.03NA 120

    HapMap Linkage Disequilibrium report for CLPP (6361463 - 6368919 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CLPP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv910916CNV Loss21882294
    nsv910911CNV Loss21882294
    dgv3698n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): CLPP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLPP
    DNA2.0 Custom Variant and Variant Library Synthesis for CLPP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601119   
    OMIM disorders: 614129  
    UniProtKB/Swiss-Prot: CLPP_HUMAN, Q16740
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 4 diseases for CLPP:    
    About MalaCards
    perrault syndrome 3    perrault syndrome 1    perrault syndrome    legionnaires' disease

    1 disease from the University of Copenhagen DISEASES database for CLPP:
    Legionnaires' disease

    Find genes that share disorders with CLPP           About GenesLikeMe

    1 Novoseek inferred disease relationship for CLPP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shock 33.8 4 9393683 (1), 12940983 (1), 11069659 (1), 20049702 (1)

    Genetic Association Database (GAD): CLPP
    Human Genome Epidemiology (HuGE) Navigator: CLPP (1 document)

    Export disorders for CLPP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CLPP gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with CLPP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human ClpP protease: cDNA sequence, tissue-specific expression and chromosomal assignment of the gene. (PubMed id 8543061)1, 2, 3, 9 Bross P.... Gregersen N. (FEBS Lett. 1995)
    2. Human CLPP reverts the longevity phenotype of a fungal ClpP deletion strain. (PubMed id 23360988)1, 3 Fischer F....Osiewacz H.D. (Nat Commun 2013)
    3. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. (PubMed id 23541340)1, 2 Jenkinson E.M....Newman W.G. (Am. J. Hum. Genet. 2013)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Crystallography and mutagenesis point to an essential role for the N- terminus of human mitochondrial ClpP. (PubMed id 15522782)1, 2 Kang S.G.... Ahvazi B. (J. Struct. Biol. 2004)
    7. Mitochondrial localization and oligomeric structure of HClpP, the human homologue of E. coli ClpP. (PubMed id 10525407)1, 2 de Sagarra M.R.... Castano J.G. (J. Mol. Biol. 1999)
    8. Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13). (PubMed id 18378094)1, 9 Hansen J....Bross P. (Neuroscience 2008)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8192 HGNC: 2084 AceView: CLPP Ensembl:ENSG00000125656 euGenes: HUgn8192
    ECgene: CLPP H-InvDB: CLPP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CLPP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CLPP gene:
    Search GeneIP for patents involving CLPP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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