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CLPB caseinolytic mitochondrial matrix peptidase chaperone subunit B [ Homo sapiens (human) ]

Gene ID: 81570, updated on 8-Jul-2021

Summary

Official Symbol
CLPBprovided by HGNC
Official Full Name
caseinolytic mitochondrial matrix peptidase chaperone subunit Bprovided by HGNC
Primary source
HGNC:HGNC:30664
See related
Ensembl:ENSG00000162129 MIM:616254
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
SKD3; HSP78; MGCA7; ANKCLB; 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
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Genomic context

See CLPB in Genome Data Viewer
Location:
11q13.4
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (72285495..72434557, complement)
105.20201022 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 LOC112268077 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

Homology

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
PubMed 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables molecular_function ND
No biological Data available
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
PubMed 
involved_in cellular response to heat IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
caseinolytic peptidase B protein homolog
Names
ClpB caseinolytic peptidase B homolog
ClpB homolog, mitochondrial AAA ATPase chaperonin
ankyrin-repeat containing bacterial clp fusion
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

NCBI Reference Sequences (RefSeq)

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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  caseinolytic peptidase B protein homolog 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/Swiss-Prot
    Q9H078
    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  caseinolytic peptidase B protein homolog 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/Swiss-Prot
    Q9H078
    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  caseinolytic peptidase B protein homolog 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
    Consensus CDS
    CCDS58152.1
    UniProtKB/Swiss-Prot
    Q9H078
    Related
    ENSP00000407296.2, ENST00000437826.6
    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  caseinolytic peptidase B protein homolog 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
    Q9H078
    UniProtKB/TrEMBL
    A0A140VK11
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    72285495..72434557 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274320.1XP_005274377.1  caseinolytic peptidase B protein homolog isoform X1

    Related
    ENSP00000439746.2, ENST00000543042.6
    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_011545289.2XP_011543591.1  caseinolytic peptidase B protein homolog isoform X2

    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]
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