CLPP
entrez
8192
canonical
uniprot
Q16740
canonical
ensembl
ENSG00000125656
resolver
ensp
ENSP00000245816
resolver
ensp
ENSP00000520519
resolver
ensp
ENSP00000596330
resolver
enst
ENST00000245816
resolver
enst
ENST00000715787
resolver
genesymbol
CLPP
resolver
hgnc
HGNC:2084
resolver
uniprot
B2R4W5
resolver
uniprot_entry
CLPP_HUMAN
resolver
uniprot_sec
B2R4W5
resolver
amino_acid_sequence
MWPGILVGGARVASCRYPALGPRLAAHFPAQRPPQRTLQNGLALQRCLHATATRALPLIPIVVEQTGRGERAYDIYSRLLRERIVCVMGPIDDSVASLVIAQLLFLQSESNKKPIHMYINSPGGVVTAGLAIYDTMQYILNPICTWCVGQAASMGSLLLAAGTPGMRHSLPNSRIMIHQPSGGARGQATDIAIQAEEIMKLKKQLYNIYAKHTKQSLQVIESAMERDRYMSPMEAQEFGILDKVLVHPPQDGEDEPTLVQKEPVEAAPAAEPVPAST
uniprot
proteins
disease_involvement
DISEASE: Perrault syndrome 3 (PRLTS3) [MIM:614129]: An autosomal recessive, 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 variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.21.92
uniprot
proteins
function
FUNCTION: Protease component of the ClpXP complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. The ClpXP 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 (PubMed:11923310, PubMed:15522782). Cleaves PINK1 in the mitochondrion (PubMed:22354088). {ECO:0000269|PubMed:11923310, ECO:0000269|PubMed:15522782, ECO:0000269|PubMed:22354088}.
uniprot
proteins
mass_dalton
30180
uniprot
proteins
mutagenesis
MUTAGEN 58..61; /note="Missing: Abolishes protease activity."; /evidence="ECO:0000269|PubMed:15522782"; MUTAGEN 153; /note="S->A,C: Abolishes protease activity."; /evidence="ECO:0000269|PubMed:11923310
uniprot
proteins
protein_family
Peptidase S14 family
uniprot
proteins
pubmed
10525407
uniprot
proteins
pubmed
11923310
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15522782
uniprot
proteins
pubmed
16115876
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19892738
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22354088
uniprot
proteins
pubmed
23541340
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25956234
uniprot
proteins
pubmed
8543061
uniprot
proteins
sequence_length
277
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:10525407, ECO:0000269|PubMed:22354088}.
uniprot
proteins