CLPB
entrez
81570
canonical
uniprot
Q9H078
canonical
ensembl
ENSG00000162129
resolver
ensp
ENSP00000294053
resolver
ensp
ENSP00000340385
resolver
ensp
ENSP00000441518
resolver
genesymbol
CLPB
resolver
genesymbol_syn
SKD3
resolver
hgnc
HGNC:30664
resolver
uniprot
A0A140VK11
resolver
uniprot
B4DXJ7
resolver
uniprot
B4DXP7
resolver
uniprot
B4DXW4
resolver
uniprot
E7EWN6
resolver
uniprot
F8W7P6
resolver
uniprot
Q8ND11
resolver
uniprot
Q9H8Y0
resolver
uniprot_entry
A0A140VK11_HUMAN
resolver
uniprot_entry
CLPB_HUMAN
resolver
uniprot_sec
B4DXJ7
resolver
uniprot_sec
B4DXP7
resolver
uniprot_sec
B4DXW4
resolver
uniprot_sec
E7EWN6
resolver
uniprot_sec
F8W7P6
resolver
uniprot_sec
Q8ND11
resolver
uniprot_sec
Q9H8Y0
resolver
activity_regulation
ACTIVITY REGULATION: Disaggregase activity is inhibited by ADP. {ECO:0000269|PubMed:36170828}.
uniprot
proteins
amino_acid_sequence
MLGSLVLRRKALAPRLLLRLLRSPTLRGHGGASGRNVTTGSLGEPQWLRVATGGRPGTSPALFSGRGAATGGRQGGRFDTKCLAAATWGRLPGPEETLPGQDSWNGVPSRAGLGMCALAAALVVHCYSKSPSNKDAALLEAARANNMQEVSRLLSEGADVNAKHRLGWTALMVAAINRNNSVVQVLLAAGADPNLGDDFSSVYKTAKEQGIHSLEDGGQDGASRHITNQWTSALEFRRWLGLPAGVLITREDDFNNRLNNRASFKGCTALHYAVLADDYRTVKELLDGGANPLQRNEMGHTPLDYAREGEVMKLLRTSEAKYQEKQRKREAEERRRFPLEQRLKEHIIGQESAIATVGAAIRRKENGWYDEEHPLVFLFLGSSGIGKTELAKQTAKYMHKDAKKGFIRLDMSEFQERHEVAKFIGSPPGYVGHEEGGQLTKKLKQCPNAVVLFDEVDKAHPDVLTIMLQLFDEGRLTDGKGKTIDCKDAIFIMTSNVASDEIAQHALQLRQEALEMSRNRIAENLGDVQISDKITISKNFKENVIRPILKAHFRRDEFLGRINEIVYFLPFCHSELIQLVNKELNFWAKRAKQRHNITLLWDREVADVLVDGYNVHYGARSIKHEVERRVVNQLAAAYEQDLLPGGCTLRITVEDSDKQLLKSPELPSPQAEKRLPKLRLEIIDKDSKTRRLDIRAPLHPEKVCNTI
uniprot
proteins
disease_involvement
DISEASE: 3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271]: An autosomal recessive inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development,impaired intellectual development, cataracts, seizures, and recurrent infections. {ECO:0000269|PubMed:25597510, ECO:0000269|PubMed:25597511, ECO:0000269|PubMed:32573439, ECO:0000269|PubMed:34115842, ECO:0000269|PubMed:35616898}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 3-methylglutaconic aciduria 7A (MGCA7A) [MIM:619835]: An autosomal dominant inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development, impaired intellectual development, cataracts, seizures, and recurrent infections. {ECO:0000269|PubMed:34140661}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neutropenia, severe congenital 9, autosomal dominant (SCN9) [MIM:619813]: A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. SCN9 is characterized by onset of neutropenia in the first years of life. Rare patients may exhibit additional features such as seizures, learning difficulties, or cataracts. Patients with SCN9 do not have 3-methylglutaconic aciduria. {ECO:0000269|PubMed:34115842}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.1.-
uniprot
proteins
function
FUNCTION: Functions as a regulatory ATPase and participates in secretion/protein trafficking process. Has ATP-dependent protein disaggregase activity and is required to maintain the solubility of key mitochondrial proteins (PubMed:32573439, PubMed:34115842, PubMed:35247700, PubMed:36170828, PubMed:36745679). Involved in mitochondrial-mediated antiviral innate immunity, activates RIG-I-mediated signal transduction and production of IFNB1 and pro-inflammatory cytokine IL6 (PubMed:31522117). Plays a role in granulocyte differentiation (PubMed:34115842). {ECO:0000269|PubMed:31522117, ECO:0000269|PubMed:32573439, ECO:0000269|PubMed:34115842, ECO:0000269|PubMed:35247700, ECO:0000269|PubMed:36170828, ECO:0000269|PubMed:36745679}.
uniprot
proteins
mass_dalton
78729
uniprot
proteins
mutagenesis
MUTAGEN 178; /note="R->E: Shows higher order assembly but disaggregase activity is severely impaired by 70-80%."; /evidence="ECO:0000269|PubMed:36745679"; MUTAGEN 257; /note="R->E: Shows higher order assembly but disaggregase activity is severely impaired by 70-80%."; /evidence="ECO:0000269|PubMed:36745679"; MUTAGEN 387; /note="K->A: Loss of ATP hydrolysis activity. Loss of ATP-dependent protein disaggregase activity."; /evidence="ECO:0000269|PubMed:32573439"; MUTAGEN 417; /note="R->A: No effect on ATPase activity but shows decreased disaggregase activity."; /evidence="ECO:0000269|PubMed:36170828"; MUTAGEN 430; /note="Y->A: Decreased ATP hydrolysis activity. Loss of ATP-dependent protein disaggregase activity."; /evidence="ECO:0000269|PubMed:32573439"; MUTAGEN 431; /note="V->G: Decreased ATP hydrolysis activity. Loss of ATP-dependent protein disaggregase activity."; /evidence="ECO:0000269|PubMed:36170828"; MUTAGEN 455; /note="E->Q: Loss of ATP hydrolysis activity at pH 8.0. No effect on ATP hydrolysis activity at pH 6.8. Loss of ATP-dependent protein disaggregase activity at pH 8.0 and 6.8."; /evidence="ECO:0000269|PubMed:32573439, ECO:0000269|PubMed:36745679"; MUTAGEN 475; /note="R->Q: Severely decreased ATP hydrolysis activity. Loss of ATP-dependent protein disaggregase activity."; /evidence="ECO:0000269|PubMed:32573439"; MUTAGEN 650; /note="R->P: No effect on ATP hydrolysis activity. Loss of ATP-dependent protein disaggregase activity."; /evidence="ECO:0000269|PubMed:32573439
uniprot
proteins
post_translational_modification
PTM: Proteolytically cleaved by protease PARL (PubMed:28288130). ATP-dependent protein disaggregase activity is stimulated by PARL-mediated cleavage of the N-terminal autoinhibitory peptide. {ECO:0000269|PubMed:28288130, ECO:0000269|PubMed:32573439}.
uniprot
proteins
protein_family
ClpA/ClpB family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25597510
uniprot
proteins
pubmed
25597511
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28288130
uniprot
proteins
pubmed
31522117
uniprot
proteins
pubmed
32573439
uniprot
proteins
pubmed
32866687
uniprot
proteins
pubmed
34115842
uniprot
proteins
pubmed
34140661
uniprot
proteins
pubmed
35247700
uniprot
proteins
pubmed
35616898
uniprot
proteins
pubmed
36170828
uniprot
proteins
pubmed
36745679
uniprot
proteins
sequence_length
707
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:25597510, ECO:0000269|PubMed:31522117, ECO:0000269|PubMed:32866687, ECO:0000269|PubMed:34115842}.
uniprot
proteins