CLPX (caseinolytic mitochondrial matrix peptidase chaperone subunit X)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 10845
Gene name Caseinolytic mitochondrial matrix peptidase chaperone subunit X
Gene symbol CLPX
Synonyms (NCBI Gene)
EPP2
Chromosome 15
Chromosome location 15q22.31
Summary The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric rings of the CLPP catalytic subunit sandwiched between two
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1555412542 C>T Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
90
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (90)
miRTarBase ID miRNA Experiments Reference
MIRT032371 hsa-let-7b-5p Proteomics 18668040
MIRT704588 hsa-miR-4438 HITS-CLIP 23313552
MIRT704587 hsa-miR-6504-3p HITS-CLIP 23313552
MIRT704586 hsa-miR-4269 HITS-CLIP 23313552
MIRT704585 hsa-miR-6715b-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (36)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004176 Function ATP-dependent peptidase activity IDA 16115876
GO:0005515 Function Protein binding IPI 11923310, 15522782, 16115876
GO:0005524 Function ATP binding IBA
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615611 2088 ENSG00000166855
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O76031
Protein name ATP-dependent clpX-like chaperone, mitochondrial (EC 3.6.4.10) (ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial) (Caseinolytic mitochondrial matrix peptidase chaperone subunit X)
Protein function ATP-dependent chaperone that functions as an unfoldase. As part of the ClpXP protease complex, it recognizes specific protein substrates, unfolds them using energy derived from ATP hydrolysis, and then translocates them to the proteolytic subuni
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07724 AAA_2 284 → 503 AAA domain (Cdc48 subfamily) Domain
PF10431 ClpB_D2-small 509 → 593 C-terminal, D2-small domain, of ClpB protein Domain
Tissue specificity TISSUE SPECIFICITY: Higher expression in skeletal muscle and heart and to a lesser extent in liver, brain, placenta, lung, kidney and pancreas. {ECO:0000269|PubMed:11003706}.
Sequence 
MPSCGACTCGAAAVRLITSSLASAQRGISGGRIHMSVLGRLGTFETQILQRAPLRSFTET
PAYFASKDGISKDGSGDGNKKSASEGSSKKSGSGNSGKGGNQLRCPKCGDLCTHVETFVS
STRFVKCEKCHHFFVVLSEADSKKSIIKEPESAAEAVKLAFQQKPPPPPKKIYNYLDKYV
VGQSFAKKVLSVAVYNHYKRIYNNIPANLRQQAEVEKQTSLTPRELEIRRREDEYRFTKL
LQIAGISPHGNALGASMQQQVNQQIPQEKRGGEVLDSSHDDIKLEKSNILLLGPTGSGKT
LLAQTLAKCLDVPFAICDCTTLTQAGYVGEDIESVIAKLLQDANYNVEKAQQGIVFLDEV
DKIGSVPGIHQLRDVGGEGVQQGLLKLLEGTIVNVPEKNSRKLRGETVQVDTTNILFVAS
GAFNGLDRIISRRKNEKYLGFGTPSNLGKGRRAAAAADLANRSGESNTHQDIEEKDRLLR
HVEARDLIEFGMIPEFVGRLPVVVPLHSLDEKTLVQILTEPRNAVIPQYQALFSMDKCEL
NVTEDALKAIARLALERKTGARGLRSIMEKLLLEPMFEVPNSDIVCVEVDKEVVEGKKEP
GYIRAPTKESSEEEYDSGVEEEGWPRQADAANS
Sequence length 633
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Protoporphyria, erythropoietic, 2 Likely pathogenic rs1555412542 RCV000656530
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLPX-related disorder Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cystic Fibrosis Associate 18599839
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 26675528, 36675163
★★★★★
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Associate 36675163
★★★★★
★☆☆☆☆
Found in Text Mining only
Porphyrias Associate 28874591
★★★★★
★☆☆☆☆
Found in Text Mining only
Protoporphyria Erythropoietic Associate 28874591
★★★★★
★☆☆☆☆
Found in Text Mining only