2. Gene
  3. CLPB - caseinolytic mitochondrial matrix peptidase chaperone subunit B Gene

CLPB - caseinolytic mitochondrial matrix peptidase chaperone subunit B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 81570 | Gene type: protein coding

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

CLPB Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (134 - 196)

Ank

Ank: Ankyrin repeat (266 - 296)

AAA_2

AAA_2: AAA domain (Cdc48 subfamily) (376 - 565)

ClpB_D2-small

ClpB_D2-small: C-terminal, D2-small domain, of ClpB protein (573 - 649)

  • 0
  • 200
  • 400
  • 600
  • 707 a.a.
Protein Preferred Names Protein Names

caseinolytic peptidase B protein homolog

ClpB caseinolytic peptidase B homolog

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
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-150166 ClpB-IN-1 Inhibitor 98.00% Unkown
HY-W016969 2-Undecanone 98.96% Unkown
HY-RS02830 CLPB Human Pre-designed siRNA Set A / 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