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    CLPB ClpB family mitochondrial disaggregase [ Homo sapiens (human) ]

    Gene ID: 81570, updated on 27-Nov-2024

    Summary

    Official Symbol
    CLPBprovided by HGNC
    Official Full Name
    ClpB family mitochondrial disaggregaseprovided by HGNC
    Primary source
    HGNC:HGNC:30664
    See related
    Ensembl:ENSG00000162129 MIM:616254; AllianceGenome:HGNC:30664
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCN9; SKD3; HSP78; MGCA7; ANKCLB; ANKCLP; MGCA7A; MEGCANN
    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 replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
    Expression
    Biased expression in testis (RPKM 59.2), brain (RPKM 5.3) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CLPB in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (72285495..72434531, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (72211988..72361006, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71996539..72145575, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene dedicator of cytokinesis 1 pseudogene Neighboring gene U2 small nuclear RNA auxiliary factor 1 like 4 pseudogene Neighboring gene uncharacterized LOC124902708 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:72012242-72013441 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:72019508-72019989 Neighboring gene Sharpr-MPRA regulatory region 1135 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:72026127-72026628 Neighboring gene uncharacterized LOC112268077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5190 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:72129073-72129760 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:72129761-72130448 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:72130449-72131135 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:72131818-72133017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5191 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:72145720-72146526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3719 Neighboring gene ADP-ribosyltransferase 2B, pseudogene Neighboring gene ADP-ribosyltransferase 2, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13152

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP hydrolysis activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent protein disaggregase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP-dependent protein disaggregase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RIG-I signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in antiviral innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to heat IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to heat IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in granulocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial intermembrane space IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    mitochondrial disaggregase
    Names
    ClpB caseinolytic peptidase B homolog
    ClpB homolog, mitochondrial AAA ATPase chaperonin
    ankyrin-repeat containing bacterial clp fusion
    caseinolytic mitochondrial matrix peptidase chaperone subunit B
    caseinolytic peptidase B protein homolog
    suppressor of potassium transport defect 3
    testicular secretory protein Li 11
    NP_001245321.1
    NP_001245322.1
    NP_001245323.1
    NP_110440.1
    XP_005274377.1
    XP_011543591.1
    XP_047283611.1
    XP_047283612.1
    XP_054226051.1
    XP_054226052.1
    XP_054226053.1
    XP_054226054.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042130.2 RefSeqGene

      Range
      5154..154190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1338

    mRNA and Protein(s)

    1. NM_001258392.3NP_001245321.1  mitochondrial disaggregase isoform 2

      See identical proteins and their annotated locations for NP_001245321.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK023214, AP000593, BU848809, DC396265
      Consensus CDS
      CCDS58154.1
      UniProtKB/TrEMBL
      A0A2U3TZY2
      Related
      ENSP00000441518.1, ENST00000538039.6
      Conserved Domains (7) summary
      smart01086
      Location:545630
      ClpB_D2-small; C-terminal, D2-small domain, of ClpB protein
      smart00382
      Location:343480
      AAA; ATPases associated with a variety of cellular activities
      cd00204
      Location:137285
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam07724
      Location:346534
      AAA_2; AAA domain (Cdc48 subfamily)
      pfam12796
      Location:138266
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:137164
      ANK; ANK repeat [structural motif]
      cl21455
      Location:309371
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001258393.3NP_001245322.1  mitochondrial disaggregase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the 5' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK302006, AP000593, BC006404, DC396265
      Consensus CDS
      CCDS58153.1
      UniProtKB/TrEMBL
      A0A2U3TZY2
      Related
      ENSP00000340385.5, ENST00000340729.9
      Conserved Domains (7) summary
      smart01086
      Location:516601
      ClpB_D2-small; C-terminal, D2-small domain, of ClpB protein
      smart00382
      Location:314451
      AAA; ATPases associated with a variety of cellular activities
      cd00204
      Location:137256
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam07724
      Location:317505
      AAA_2; AAA domain (Cdc48 subfamily)
      pfam12796
      Location:138237
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:137168
      ANK; ANK repeat [structural motif]
      cl21455
      Location:280342
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. NM_001258394.3NP_001245323.1  mitochondrial disaggregase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and contains an alternate exon in the 5' coding region that results in initiation of translation at an alternate start codon and a novel 5' coding region compared to variant 1. The encoded isoform (4) is shorter than and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK302069, AP000593, BC006404, DC396265
      UniProtKB/Swiss-Prot
      Q9H078
      Conserved Domains (7) summary
      smart01086
      Location:530615
      ClpB_D2-small; C-terminal, D2-small domain, of ClpB protein
      smart00382
      Location:328465
      AAA; ATPases associated with a variety of cellular activities
      cd00204
      Location:108270
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam07724
      Location:331519
      AAA_2; AAA domain (Cdc48 subfamily)
      pfam13857
      Location:208261
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:121152
      ANK; ANK repeat [structural motif]
      cl21455
      Location:294356
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    4. NM_030813.6NP_110440.1  mitochondrial disaggregase isoform 1

      See identical proteins and their annotated locations for NP_110440.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AP000593, BC006404, DC396265
      Consensus CDS
      CCDS8215.1
      UniProtKB/Swiss-Prot
      B4DXJ7, B4DXP7, B4DXW4, E7EWN6, F8W7P6, Q8ND11, Q9H078, Q9H8Y0
      UniProtKB/TrEMBL
      A0A140VK11, A0A2U3TZY2
      Related
      ENSP00000294053.3, ENST00000294053.9
      Conserved Domains (4) summary
      COG0542
      Location:339655
      ClpA; ATP-dependent Clp protease ATP-binding subunit ClpA [Posttranslational modification, protein turnover, chaperones]
      cd00204
      Location:137315
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:137164
      ANK; ANK repeat [structural motif]
      cl27362
      Location:78211
      MCR_beta_N; Methyl-coenzyme M reductase beta subunit, N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      72285495..72434531 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274320.2XP_005274377.1  mitochondrial disaggregase isoform X1

      UniProtKB/TrEMBL
      A0A2U3TZY2
      Conserved Domains (7) summary
      smart01086
      Location:546631
      ClpB_D2-small; C-terminal, D2-small domain, of ClpB protein
      smart00382
      Location:344481
      AAA; ATPases associated with a variety of cellular activities
      cd00204
      Location:137286
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam07724
      Location:347535
      AAA_2; AAA domain (Cdc48 subfamily)
      pfam13857
      Location:224277
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:237267
      ANK; ANK repeat [structural motif]
      cl21455
      Location:310372
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. XM_047427655.1XP_047283611.1  mitochondrial disaggregase isoform X2

    3. XM_047427656.1XP_047283612.1  mitochondrial disaggregase isoform X3

    4. XM_011545289.3XP_011543591.1  mitochondrial disaggregase isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y6R5
      Conserved Domains (3) summary
      cd00204
      Location:137315
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:138296
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:137164
      ANK; ANK repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      72211988..72361006 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370076.1XP_054226051.1  mitochondrial disaggregase isoform X1

    2. XM_054370077.1XP_054226052.1  mitochondrial disaggregase isoform X2

    3. XM_054370078.1XP_054226053.1  mitochondrial disaggregase isoform X3

    4. XM_054370079.1XP_054226054.1  mitochondrial disaggregase isoform X4