Gene Gene information from NCBI Gene database.
Entrez ID 81570
Gene name ClpB family mitochondrial disaggregase
Gene symbol CLPB
Synonyms (NCBI Gene)
ANKCLBANKCLPHSP78MEGCANNMGCA7MGCA7ASCN9SKD3
Chromosome 11
Chromosome location 11q13.4
Summary This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA repl
SNPs SNP information provided by dbSNP.
26
SNP ID Visualize variation Clinical significance Consequence
rs144078282 T>A,C Likely-pathogenic, pathogenic-likely-pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs150857620 T>A,C Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs185461628 G>A Pathogenic Stop gained, coding sequence variant
rs200203460 G>A,C,T Pathogenic Genic downstream transcript variant, missense variant, stop gained, coding sequence variant, synonymous variant
rs374473067 C>A Pathogenic Stop gained, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
363
miRTarBase ID miRNA Experiments Reference
MIRT052510 hsa-let-7a-5p CLASH 23622248
MIRT043166 hsa-miR-324-5p CLASH 23622248
MIRT724068 hsa-miR-3606-3p HITS-CLIP 19536157
MIRT724067 hsa-miR-513a-3p HITS-CLIP 19536157
MIRT724066 hsa-miR-513c-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 19615732, 25416956, 31522117, 33961781
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616254 30664 ENSG00000162129
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H078
Protein name Mitochondrial disaggregase (EC 3.6.1.-) (Suppressor of potassium transport defect 3) [Cleaved into: Mitochondrial disaggregase, cleaved form]
Protein 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:3411584
PDB 7TTR , 7TTS , 7US2 , 7XBK , 7XC5 , 8DEH , 8FDS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 111 197 Ankyrin repeats (3 copies) Repeat
PF13857 Ank_5 249 306 Repeat
PF07724 AAA_2 372 565 AAA domain (Cdc48 subfamily) Domain
PF10431 ClpB_D2-small 572 651 C-terminal, D2-small domain, of ClpB protein Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (at protein level) (PubMed:25597511). Expressed in fetal, as well as in adult tissues, with highest levels in adult brain, including thalamus, hippocampus, occipital cortex and parietal cortex. Low expression in granul
Sequence
MLGSLVLRRKALAPRLLLRLLRSPTLRGHGGASGRNVTTGSLGEPQWLRVATGGRPGTSP
ALFSGRGAATGGRQGGRFDTKCLAAATWGRLPGPEETLPGQDSWNGVPSRAGLGMCALAA
ALVVHCYSKSPSNKDAALLEAARANNMQEVSRLLSEGADVNAKHRLGWTALMVAAINRNN
SVVQVLLAAGADPNLGD
DFSSVYKTAKEQGIHSLEDGGQDGASRHITNQWTSALEFRRWL
GLPAGVLITREDDFNNRLNNRASFKGCTALHYAVLADDYRTVKELLDGGANPLQRNEMGH
TPLDYA
REGEVMKLLRTSEAKYQEKQRKREAEERRRFPLEQRLKEHIIGQESAIATVGAA
IRRKENGWYDEEHPLVFLFLGSSGIGKTELAKQTAKYMHKDAKKGFIRLDMSEFQERHEV
AKFIGSPPGYVGHEEGGQLTKKLKQCPNAVVLFDEVDKAHPDVLTIMLQLFDEGRLTDGK
GKTIDCKDAIFIMTSNVASDEIAQHALQLRQEALEMSRNRIAENLGDVQISDKITISKNF
KENVIRPILKAHFRRDEFLGRINEI
VYFLPFCHSELIQLVNKELNFWAKRAKQRHNITLL
WDREVADVLVDGYNVHYGARSIKHEVERRVVNQLAAAYEQDLLPGGCTLRI
TVEDSDKQL
LKSPELPSPQAEKRLPKLRLEIIDKDSKTRRLDIRAPLHPEKVCNTI
Sequence length 707
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Longevity regulating pathway - multiple species  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
664
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
3-Methylglutaconic aciduria Pathogenic rs2135485868 RCV002468655
3-methylglutaconic aciduria, type VIIA Likely pathogenic; Pathogenic rs144078282, rs200203460 RCV002492676
RCV002478519
3-methylglutaconic aciduria, type VIIB Pathogenic; Likely pathogenic rs774722200, rs2135181870, rs1856507751, rs1951072912, rs774185980, rs2135500473, rs2135500838, rs2135485868, rs2539314305, rs759500860, rs748010262, rs786205138, rs144078282, rs200203460, rs786205139
View all (15 more)
RCV001387772
RCV001526389
RCV001731007
RCV001780517
RCV001994547
RCV002021016
RCV002221965
RCV002221966
RCV002274866
RCV000167538
RCV000167539
RCV000167541
RCV000167542
RCV000167543
RCV000167545
RCV003050685
RCV003078934
RCV000173020
RCV003037025
RCV002917202
RCV000258945
RCV003589117
RCV003589250
RCV003751714
RCV003750802
RCV002532826
RCV000696412
RCV000988593
RCV001061785
RCV001248665
3-Methylglutaric aciduria Pathogenic rs2135485868 RCV002468655
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs36049191 RCV005896346
Adrenocortical carcinoma, hereditary Benign rs36049191 RCV005896348
Cholangiocarcinoma Benign rs36049191 RCV005896350
CLPB-related disorder Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign rs751918724, rs200032855, rs761231236, rs150343959, rs780563254, rs2496010986, rs2495834008, rs150087251, rs974000691, rs374708770, rs7938203, rs141271919, rs35401939, rs149932193, rs116118397
View all (16 more)
RCV003911155
RCV003965218
RCV004731290
RCV003955419
RCV003410327
RCV003416796
RCV003404456
RCV003919347
RCV004750929
RCV003896821
RCV003972595
RCV003959924
RCV003970139
RCV004751523
RCV004751603
RCV003953038
RCV003980135
RCV003928139
RCV003403608
RCV003945714
RCV003947986
RCV003943147
RCV003960772
RCV003905907
RCV003940702
RCV003955928
RCV003968220
RCV003950624
RCV003895609
RCV003973034
RCV004751865
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Methylglutaconic Aciduria Associate 32573439, 34115842, 35247700, 36074910, 37041140
Cataract Associate 34115842, 36074910
Death Associate 37041140
Genetic Diseases Inborn Associate 36074910
Heredodegenerative Disorders Nervous System Associate 34115842
Immunologic Deficiency Syndromes Associate 35499078
Infertility Associate 36074910
Leukemia Myeloid Acute Stimulate 35247700
Mitochondrial Diseases Associate 32573439, 34115842
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport Associate 35499078