CLPB - caseinolytic mitochondrial matrix peptidase chaperone subunit B Gene

Also Known as SCN9; SKD3; HSP78; MGCA7; ANKCLB; MGCA7A; MEGCANN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81570

About CLPB

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:72,285,495-72,434,531 (from NCBI)

This gene has 22 transcripts (splice variants), 201 orthologues and is associated with 6 phenotypes. Biased expression in testis (RPKM 59.2), brain (RPKM 5.3) and 5 other tissues.

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]

CLPB Products (4)

mRNA	Protein	Name
NM_001258392.3	NP_001245321.1	caseinolytic peptidase B protein homolog isoform 2
NM_001258393.3	NP_001245322.1	caseinolytic peptidase B protein homolog isoform 3
NM_001258394.3	NP_001245323.1	caseinolytic peptidase B protein homolog isoform 4
NM_030813.6	NP_110440.1	caseinolytic peptidase B protein homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP hydrolysis activity	IMP IMP: Inferred from mutant phenotype	34115842	GOA
enables ATP-dependent protein disaggregase activity	IDA IDA: Inferred from direct assay	32573439	GOA
enables ATP-dependent protein disaggregase activity	IMP IMP: Inferred from mutant phenotype	34115842	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19615732	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in RIG-I signaling pathway	IDA IDA: Inferred from direct assay	31522117	GOA
involved in antiviral innate immune response	IDA IDA: Inferred from direct assay	31522117	GOA
involved in cellular response to heat	IDA IDA: Inferred from direct assay	2745427	GOA
involved in granulocyte differentiation	IMP IMP: Inferred from mutant phenotype	34115842	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	31522117	GOA
located in mitochondrial intermembrane space	IMP IMP: Inferred from mutant phenotype	34115842	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLPB Protein Structure

Ank_2

Ank

AAA_2

ClpB_D2-small

0
200
400
600
707 a.a.

Protein Preferred Names	Protein Names
caseinolytic peptidase B protein homolog	ClpB caseinolytic peptidase B homolog

CLPB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CLPB	Q9H078	CEP70	Homo sapiens	Q8NHQ1	Y2H Prey Pooling	25416956
Intra	CLPB	Q9H078	CEP70	Homo sapiens	Q8NHQ1	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
3-Methylglutaconic Aciduria, Type Viib	3-Methylglutaconic Aciduria, Type Vii, With Cataracts, Neurologic Involvement And Neutropenia MGCA7B Mgca7 Megcann 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement, And Neutropenia, Autosomal Recessive 3-Methylglutaconic Aciduria, Type Viib, Autosomal Recessive 3-Methylglutaconic Aciduria Type 7b 3-Methylglutaconic Aciduria 7b 3-Methylglutaconic Aciduria, Type Vii 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia
Neutropenia, Severe Congenital, 9, Autosomal Dominant	SCN9 Neutropenia, Severe Congenital 9, Autosomal Dominant
3-Methylglutaconic Aciduria, Type Viia	MGCA7A 3-Methylglutaconic Aciduria With Neurologic Involvement And Neutropenia, Autosomal Dominant 3-Methylglutaconic Aciduria, Type Viia, Autosomal Dominant 3-Methylglutaconic Aciduria Type 7a 3-Methylglutaconic Aciduria 7a
3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia	3-Methylglutaconic Aciduria Type 7 Mga7 3-Methylglutaconic Aciduria Type Vii Megcann Mgca7 3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement, And Neutropenia
Autosomal Dominant Severe Congenital Neutropenia	Severe Congenital Neutropenia Autosomal Dominant Neutropenia, Congenital, Severe, Autosomal Dominant
3-Methylglutaconic Aciduria	3-Methyl Glutaconic Aciduria
Clpb Deficiency	Caseinolytic Peptidase B Deficiency Clpb Defect 3-Methylglutaconic Aciduria Type 7 3-Methylglutaconic Aciduria Type Vii 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia 3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome Megcann Mga7 Mgca7
Neutropenia	Leukopenia
Pneumonic Tularemia	Pulmonary Tularemia Bronchopneumonic Tularemia Pneumonic Tularaemia
Typhoidal Tularemia
Tularemia	Francisella Tularensis Infection Deerfly Fever Lemming Fever Ohara Disease Pahvant Valley Plague Rabbit Fever Yatobyo
Superior Mesenteric Artery Syndrome	Wilkie Syndrome Wilkie'S Syndrome Arteriomesenteric Duodenal Compression Syndrome Cast Syndrome Vascular Compression Of The Duodenum Smas Arteriomesenteric Compression Of Duodenojejunal Flexure
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Mrx12 Mrx35 X-Linked Mental Retardation 12 X-Linked Mental Retardation 35
Gastrointestinal Tularemia	Enteric Tularemia Intestinal Tularaemia
Urethral Syndrome	Urethral Disease Urethral Diseases Urethra Disease Abnormality Of The Urethra Urethral Disorders
Oculoglandular Tularemia
Campylobacteriosis	Campylobacter Infections Campylobacter Infection Enteric Campylobacteriosis
Deafness, Autosomal Recessive 63	DFNB63 Autosomal Recessive Nonsyndromic Deafness 63 Autosomal Recessive Deafness 63 Deafness, Autosomal Recessive, 63 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63 Deafness, Autosomal Recessive, Type 63
Human Monocytic Ehrlichiosis	Ehrlichiosis Chafeensis Hme Human Ehrlichial Infection, Human Monocytic Type
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150166	ClpB-IN-1	Inhibitor	99.68%	Unkown
HY-Y0999	2-Nonanone		99.82%	Unkown
HY-RS02830	CLPB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22124	Clpb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CLPB	VGNC	VGNC:60972
Canis familiaris	CLPB	VGNC	VGNC:39355
Macaca mulatta	CLPB	VGNC	VGNC:71375
Rattus norvegicus	CLPB	RGD	RGD:621328
Mus musculus	CLPB	MGD	MGI:1100517
Bos taurus	CLPB	VGNC	VGNC:27458
Others	CLPB	NCBI