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Aliases for CLPB Gene

Aliases for CLPB Gene

  • ClpB Homolog, Mitochondrial AAA ATPase Chaperonin 2 3 5
  • Suppressor Of Potassium Transport Defect 3 2 3 4
  • Ankyrin-Repeat Containing Bacterial Clp Fusion 2 3
  • HSP78 3 4
  • SKD3 3 4
  • ClpB Caseinolytic Peptidase B Homolog (E. Coli) 2
  • ClpB Caseinolytic Peptidase B Homolog 3
  • Testicular Secretory Protein Li 11 3
  • EC 3.6.1.3 4
  • MEGCANN 3
  • ANKCLB 3
  • MGCA7 3

External Ids for CLPB Gene

Previous GeneCards Identifiers for CLPB Gene

  • GC11M071682
  • GC11M071683
  • GC11M072008
  • GC11M068296

Summaries for CLPB Gene

Entrez Gene Summary for CLPB Gene

  • 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]

GeneCards Summary for CLPB Gene

CLPB (ClpB Homolog, Mitochondrial AAA ATPase Chaperonin) is a Protein Coding gene. Diseases associated with CLPB include 3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia and 3-methylglutaconic aciduria. Among its related pathways are Longevity regulating pathway - multiple species. GO annotations related to this gene include transcription factor binding and kinase activity.

UniProtKB/Swiss-Prot for CLPB Gene

  • May function as a regulatory ATPase and be related to secretion/protein trafficking process.

Gene Wiki entry for CLPB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLPB Gene

Genomics for CLPB Gene

Regulatory Elements for CLPB Gene

Enhancers for CLPB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CLPB on UCSC Golden Path with GeneCards custom track

Promoters for CLPB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CLPB on UCSC Golden Path with GeneCards custom track

Genomic Location for CLPB Gene

Chromosome:
11
Start:
72,292,425 bp from pter
End:
72,434,680 bp from pter
Size:
142,256 bases
Orientation:
Minus strand

Genomic View for CLPB Gene

Genes around CLPB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLPB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLPB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLPB Gene

Proteins for CLPB Gene

  • Protein details for CLPB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H078-CLPB_HUMAN
    Recommended name:
    Caseinolytic peptidase B protein homolog
    Protein Accession:
    Q9H078
    Secondary Accessions:
    • B4DXJ7
    • B4DXP7
    • B4DXW4
    • E7EWN6
    • F8W7P6
    • Q8ND11
    • Q9H8Y0

    Protein attributes for CLPB Gene

    Size:
    707 amino acids
    Molecular mass:
    78729 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CLPB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLPB Gene

Proteomics data for CLPB Gene at MOPED

Post-translational modifications for CLPB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for CLPB

No data available for DME Specific Peptides for CLPB Gene

Domains & Families for CLPB Gene

Suggested Antigen Peptide Sequences for CLPB Gene

Graphical View of Domain Structure for InterPro Entry

Q9H078

UniProtKB/Swiss-Prot:

CLPB_HUMAN :
  • Belongs to the ClpA/ClpB family.
  • Contains 4 ANK repeats.
Family:
  • Belongs to the ClpA/ClpB family.
Similarity:
  • Contains 4 ANK repeats.
genes like me logo Genes that share domains with CLPB: view

Function for CLPB Gene

Molecular function for CLPB Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
May function as a regulatory ATPase and be related to secretion/protein trafficking process.

Enzyme Numbers (IUBMB) for CLPB Gene

Gene Ontology (GO) - Molecular Function for CLPB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 25416956
genes like me logo Genes that share ontologies with CLPB: view
genes like me logo Genes that share phenotypes with CLPB: view

Human Phenotype Ontology for CLPB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CLPB Gene

miRTarBase miRNAs that target CLPB

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CLPB Gene

Localization for CLPB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLPB Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLPB Gene COMPARTMENTS Subcellular localization image for CLPB gene
Compartment Confidence
mitochondrion 5
cytosol 4
chloroplast 2

No data available for Gene Ontology (GO) - Cellular Components for CLPB Gene

Pathways & Interactions for CLPB Gene

genes like me logo Genes that share pathways with CLPB: view

Pathways by source for CLPB Gene

Gene Ontology (GO) - Biological Process for CLPB Gene

None

No data available for SIGNOR curated interactions for CLPB Gene

Drugs & Compounds for CLPB Gene

(1) Drugs for CLPB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CLPB: view

Transcripts for CLPB Gene

Unigene Clusters for CLPB Gene

ClpB caseinolytic peptidase B homolog (E. coli):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CLPB Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c
SP1: -
SP2: - -
SP3:
SP4: -
SP5: - -

Relevant External Links for CLPB Gene

GeneLoc Exon Structure for
CLPB
ECgene alternative splicing isoforms for
CLPB

Expression for CLPB Gene

mRNA expression in normal human tissues for CLPB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLPB Gene

This gene is overexpressed in Testis (x21.8).

Protein differential expression in normal tissues from HIPED for CLPB Gene

This gene is overexpressed in Brain (7.7), Peripheral blood mononuclear cells (6.7), and Testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CLPB Gene



SOURCE GeneReport for Unigene cluster for CLPB Gene Hs.523877

mRNA Expression by UniProt/SwissProt for CLPB Gene

Q9H078-CLPB_HUMAN
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 granulocytes (PubMed:25597510).
genes like me logo Genes that share expression patterns with CLPB: view

Protein tissue co-expression partners for CLPB Gene

Primer Products

In Situ Assay Products

Orthologs for CLPB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CLPB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CLPB 35
  • 90 (n)
  • 92.61 (a)
CLPB 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLPB 35
  • 91.61 (n)
  • 92.36 (a)
CLPB 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clpb 35
  • 86.02 (n)
  • 88.33 (a)
Clpb 16
Clpb 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLPB 35
  • 99.58 (n)
  • 99.58 (a)
CLPB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clpb 35
  • 85.87 (n)
  • 88.77 (a)
oppossum
(Monodelphis domestica)
Mammalia CLPB 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLPB 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLPB 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLPB 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clpb 35
  • 74.42 (n)
  • 80.26 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5964 35
zebrafish
(Danio rerio)
Actinopterygii LOC100331587 35
  • 73.55 (n)
  • 77.15 (a)
CLPB 36
  • 77 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HSP104 36
  • 16 (a)
OneToMany
HSP78 36
  • 18 (a)
OneToMany
HSP78 38
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7808 35
barley
(Hordeum vulgare)
Liliopsida Hv.3721 35
rice
(Oryza sativa)
Liliopsida Os.4859 35
Os04g0397100 35
  • 53.6 (n)
  • 43.53 (a)
corn
(Zea mays)
Liliopsida Zm.438 35
Species with no ortholog for CLPB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CLPB Gene

ENSEMBL:
Gene Tree for CLPB (if available)
TreeFam:
Gene Tree for CLPB (if available)

Paralogs for CLPB Gene

No data available for Paralogs for CLPB Gene

Variants for CLPB Gene

Sequence variations from dbSNP and Humsavar for CLPB Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs7938203 - 72,329,786(+) CATTC(C/G)TCTGC reference, missense
VAR_073397 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN)
VAR_073398 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN)
VAR_073399 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN)
VAR_073400 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN)

Structural Variations from Database of Genomic Variants (DGV) for CLPB Gene

Variant ID Type Subtype PubMed ID
nsv385 CNV Insertion 18451855
nsv832206 CNV Gain 17160897
esv2744769 CNV Deletion 23290073
esv2339545 CNV Deletion 18987734
esv2662493 CNV Deletion 23128226
nsv825990 CNV Loss 20364138
esv1000322 CNV Deletion 20482838
esv8221 CNV Gain 19470904
esv267422 CNV Insertion 20981092
esv274124 CNV Insertion 20981092

Variation tolerance for CLPB Gene

Residual Variation Intolerance Score: 91.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.11; 61.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLPB Gene

HapMap Linkage Disequilibrium report
CLPB
Human Gene Mutation Database (HGMD)
CLPB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLPB Gene

Disorders for CLPB Gene

MalaCards: The human disease database

(5) MalaCards diseases for CLPB Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia
  • 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria
neutropenia
  • leukopenia
pneumonic tularemia
  • bronchopneumonic tularemia
tularemia
  • deerfly fever
- elite association - COSMIC cancer census association via MalaCards
Search CLPB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLPB_HUMAN
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN) [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, cataracts, seizures, and recurrent infections. {ECO:0000269 PubMed:25597510, ECO:0000269 PubMed:25597511}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CLPB

Genetic Association Database (GAD)
CLPB
Human Genome Epidemiology (HuGE) Navigator
CLPB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLPB
genes like me logo Genes that share disorders with CLPB: view

No data available for Genatlas for CLPB Gene

Publications for CLPB Gene

  1. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. (PMID: 25597510) Wortmann S.B. … Wevers R.A. (Am. J. Hum. Genet. 2015) 3 4 67
  2. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. (PMID: 25650066) Capo-Chichi J.M. … Michaud J.L. (J. Med. Genet. 2015) 2 3
  3. Metabolic and chaperone gene loss marks the origin of animals: evidence for Hsp104 and Hsp78 chaperones sharing mitochondrial enzymes as clients. (PMID: 25710177) Erives A.J. … Fassler J.S. (PLoS ONE 2015) 2 3
  4. Expression of a putative ATPase suppresses the growth defect of a yeast potassium transport mutant: identification of a mammalian member of the Clp/HSP104 family. (PMID: 7835694) PAcrier F. … Vandenberg C.A. (Gene 1995) 2 3
  5. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. (PMID: 25595726) Kanabus M. … Rahman S. (J. Inherit. Metab. Dis. 2015) 3

Products for CLPB Gene

Sources for CLPB Gene

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