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

CLPB - caseinolytic mitochondrial matrix peptidase chaperone subunit B Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：酪蛋白分解线粒体基质肽酶伴侣亚基 B

种属: Homo sapiens

同用名: SCN9; SKD3; HSP78; MGCA7; ANKCLB; MGCA7A; MEGCANN

基因 ID: 81570 | 基因类型: protein coding

关于 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.

功能概要

该基因属于与多种细胞活动 (AAA+) 超家族相关的 ATP 酶。这个超家族的成员形成环状同源六聚体，并具有高度保守的 ATP 酶结构域，这些结构域参与各种过程，包括 DNA 复制、蛋白质降解和错误折叠蛋白质的重新激活。该家族的所有成员都通过其 AAA+ 结构域水解 ATP，并利用 ATP 水解产生的能量对其底物施加机械力。除了 AAA+ 结构域外，该基因编码的蛋白质还包含一个 C 端 D2 结构域，这是该蛋白质所属的酪蛋白水解肽酶 AAA+ 亚家族的特征。它与 HSP70 合作分解蛋白质聚集体。该基因的等位基因变异与 3-甲基戊烯二酸尿症有关，后者会导致白内障和中性粒细胞减少症。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATP hydrolysis activity IMP
IMP: 通过突变表型推断
34115842 GOA
enables ATP-dependent protein disaggregase activity IDA
IDA: 通过直接分析推断
32573439 GOA
enables ATP-dependent protein disaggregase activity IMP
IMP: 通过突变表型推断
34115842 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19615732 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RIG-I signaling pathway IDA
IDA: 通过直接分析推断
31522117 GOA
involved in antiviral innate immune response IDA
IDA: 通过直接分析推断
31522117 GOA
involved in cellular response to heat IDA
IDA: 通过直接分析推断
2745427 GOA
involved in granulocyte differentiation IMP
IMP: 通过突变表型推断
34115842 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial intermembrane space IDA
IDA: 通过直接分析推断
31522117 GOA
located in mitochondrial intermembrane space IMP
IMP: 通过突变表型推断
34115842 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CLPB 蛋白结构

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.
蛋白主名 其他名称

caseinolytic peptidase B protein homolog

ClpB caseinolytic peptidase B homolog

CLPB 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CLPB Q9H078 CEP70 Homo sapiens Q8NHQ1
Y2H Prey Pooling
25416956
种属内
CLPB Q9H078 CEP70 Homo sapiens Q8NHQ1
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-150166 ClpB-IN-1 Inhibitor 98.00% 否
HY-W016969 2-Undecanone Inhibitor 98.96% 否
HY-RS02830 CLPB Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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