HSCB - HscB mitochondrial iron-sulfur cluster cochaperone Gene

中文名称：HscB 线粒体铁硫簇辅伴侣

种属: Homo sapiens

同用名: JAC1; HSC20; SIDBA5; DNAJC20

基因 ID: 150274 | 基因类型: protein coding

关于 HSCB

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:28,742,032-28,757,510 (from NCBI)

Ubiquitous expression in ovary (RPKM 4.7), prostate (RPKM 4.7) and 25 other tissues.

功能概要

该基因编码 DnaJ 型共伴侣蛋白和热休克同源 B (HscB) 蛋白家族的成员。编码的蛋白质在铁硫簇的合成中发挥作用，铁硫簇是参与线粒体电子传递和其他过程的氧化还原反应的蛋白质辅助因子。该基因被敲低的细胞表现出铁硫簇依赖性酶 (包括琥珀酸脱氢酶和乌头酸酶) 的活性降低。编码的蛋白质可以刺激线粒体 stress-70 蛋白的 ATPase 活性。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 12 月]

This gene encodes a DnaJ-type co-chaperone and member of the heat shock cognate B (HscB) family of proteins. The encoded protein plays a role in the synthesis of iron-sulfur clusters, protein cofactors that are involved in the redox reactions of mitochondrial electron transport and Other processes. Cells in which this gene is knocked down exhibit reduced activity of iron-sulfur cluster-dependent Enzymes including Succinate Dehydrogenase and aconitase. The encoded protein may stimulate the ATPase activity of the mitochondrial stress-70 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

HSCB 基因产物(5)

mRNA	Protein	Name
NM_001318314.2	NP_001305243.1	iron-sulfur cluster co-chaperone protein HscB isoform 2 precursor
NM_001318315.2	NP_001305244.1	iron-sulfur cluster co-chaperone protein HscB isoform 3 precursor
NM_001318316.2	NP_001305245.1	iron-sulfur cluster co-chaperone protein HscB isoform 4
NM_001363856.1	NP_001350785.1	iron-sulfur cluster co-chaperone protein HscB isoform 3 precursor
NM_172002.5	NP_741999.3	iron-sulfur cluster co-chaperone protein HscB isoform 1 precursor

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 identical protein binding	IPI IPI: 通过物理相互作用推断	24606901	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20668094	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in iron-sulfur cluster assembly	IMP IMP: 通过突变表型推断	20668094	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	20668094	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	20668094	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

HSCB 蛋白结构

DnaJ

HSCB_C

0
100
200
235 a.a.

蛋白主名

其他名称

iron-sulfur cluster co-chaperone protein HscB

DnaJ (Hsp40) homolog, subfamily C, member 20

HSCB 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	HSCB	Q8IWL3	GLRX5	Homo sapiens	Q86SX6	Anti Bait CoIP	24606901
种属内	HSCB	Q8IWL3	GLRX5	Homo sapiens	Q86SX6	Anti Tag CoIP	24606901
种属内	HSCB	Q8IWL3	GLRX5	Homo sapiens	Q86SX6	Anti Bait CoIP	28380382
种属内	HSCB	Q8IWL3	ETFA	Homo sapiens	P13804	Anti Bait CoIP	28380382
种属内	HSCB	Q8IWL3	ETFA	Homo sapiens	P13804	Anti Tag CoIP	28380382
种属内	HSCB	Q8IWL3	ETFA	Homo sapiens	P13804	Y2H	24606901
种属内	HSCB	Q8IWL3	SDHB	Homo sapiens	P21912	Y2H	24606901
种属内	HSCB	Q8IWL3	SDHB	Homo sapiens	P21912	Anti Tag CoIP	24606901
种属内	HSCB	Q8IWL3	SDHB	Homo sapiens	P21912	Anti Bait CoIP	24606901
种属内	HSCB	Q8IWL3	SDHB	Homo sapiens	P21912	Anti Bait CoIP	28380382
种属内	HSCB	Q8IWL3	SDHB	Homo sapiens	P21912	Anti Tag CoIP	28380382
种属内	HSCB	Q8IWL3	SDHAF1	Homo sapiens	A6NFY7	Anti Bait CoIP	28380382
种属内	HSCB	Q8IWL3	SDHAF1	Homo sapiens	A6NFY7	Anti Tag CoIP	24606901
种属内	HSCB	Q8IWL3	HELZ	Homo sapiens	P42694	Anti Tag CoIP	24606901
种属内	HSCB	Q8IWL3	HELZ	Homo sapiens	P42694	Y2H	24606901
种属内	HSCB	Q8IWL3	HELZ	Homo sapiens	P42694	Anti Bait CoIP	24606901
种属内	HSCB	Q8IWL3	LYRM7	Homo sapiens	Q5U5X0	Anti Bait CoIP	24606901
种属内	HSCB	Q8IWL3	LYRM7	Homo sapiens	Q5U5X0	Anti Tag CoIP	28380382
种属内	HSCB	Q8IWL3	LYRM7	Homo sapiens	Q5U5X0	Y2H	24606901
种属内	HSCB	Q8IWL3	LYRM7	Homo sapiens	Q5U5X0	Anti Bait CoIP	28380382
种属内	HSCB	Q8IWL3	SUCLG2	Homo sapiens	Q96I99	Y2H	24606901
种属内	HSCB	Q8IWL3	SUCLG2	Homo sapiens	Q96I99	Anti Bait CoIP	28380382
种属内	HSCB	Q8IWL3	SUCLG2	Homo sapiens	Q96I99	Anti Tag CoIP	28380382
种属内	HSCB	Q8IWL3	SUCLG2	Homo sapiens	Q96I99	Anti Bait CoIP	24606901
种属内	HSCB	Q8IWL3	HSPA9	Homo sapiens	P38646	Anti Tag CoIP	28380382
种属内	HSCB	Q8IWL3	HSPA9	Homo sapiens	P38646	Anti Tag CoIP	24606901
种属内	HSCB	Q8IWL3	HSPA9	Homo sapiens	P38646	Anti Bait CoIP	28380382
种属内	HSCB	Q8IWL3	HSPA9	Homo sapiens	P38646	Anti Bait CoIP	24606901
种属内	HSCB	Q8IWL3	EPRS1	Homo sapiens	P07814	Y2H	24606901
种属内	HSCB	Q8IWL3	EPRS1	Homo sapiens	P07814	Anti Tag CoIP	24606901
种属内	HSCB	Q8IWL3	EPRS1	Homo sapiens	P07814	Anti Bait CoIP	28380382
种属内	HSCB	Q8IWL3	NQO2	Homo sapiens	P16083	Y2H	24606901
种属内	HSCB	Q8IWL3	NQO2	Homo sapiens	P16083	Anti Bait CoIP	24606901
种属内	HSCB	Q8IWL3	NQO2	Homo sapiens	P16083	Anti Tag CoIP	24606901
种属内	HSCB	Q8IWL3	NDUFV2	Homo sapiens	P19404	Anti Bait CoIP	28380382
种属内	HSCB	Q8IWL3	NDUFV2	Homo sapiens	P19404	Anti Tag CoIP	28380382
种属内	HSCB	Q8IWL3	AGTRAP	Homo sapiens	Q6RW13	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

Anemia, Sideroblastic, 5

SIDBA5

Sideroblastic Anemia

Anemia Sideroblastic	Anemia, Sideroblastic
Anemia, Hypochromic With Iron Loading

Epilepsy, Juvenile Absence 1

Epilepsy, Juvenile Absence, Susceptibility To, 1	EJA1
JAE1	Juvenile Absence Epilepsy 1
Susceptibility To Juvenile Absence Epilepsy 1	Epilepsy, Juvenile Absence, Susceptibility To, Type 1
Absence Epilepsy

Multiple Mitochondrial Dysfunctions Syndrome 1

MMDS1	Mmds
Nfu1 Deficiency	Multiple Mitochondrial Dysfunctions Syndrome Type 1
Mitochondrial Dysfunctions Syndrome, Multiple, Type 1

Combined Oxidative Phosphorylation Deficiency 19

COXPD19	Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency
Combined Oxidative Phosphorylation Deficiency, Type 19

Pica Disease

Pica

Anemia, Sideroblastic, And Spinocerebellar Ataxia

X-Linked Sideroblastic Anemia With Ataxia	ASAT
X-Linked Sideroblastic Anemia And Ataxia	X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Sideroblastic, With Ataxia	Anemia Sideroblastic And Spinocerebellar Ataxia
Pagon Bird Detter Syndrome	Pagon-Bird-Detter Syndrome
Xlsa-A	X-Linked Sideroblastic Anaemia And Ataxia
X-Linked Sideroblastic Anaemia With Ataxia	Sideroblastic Anemia With Spinocerebellar Ataxia
Xlsa/A	Anemia, Sideroblastic, Spinocerebellar Ataxia
Sideroblastic Anemia And Ataxia	Anemia Sideroblastic, And Spinocerebellar Ataxia

Anemia, Sideroblastic, 1

Xlsa	X-Linked Sideroblastic Anemia
Hypochromic Anemia	Anh1
Hereditary Iron-Loading Anemia	Anemia, Sideroblastic, X-Linked
Anemia, Hereditary Sideroblastic	Erythroid 5-Aminolevulinate Synthase Deficiency
Hereditary Sideroblastic Anemia	SIDBA1
Anemia, Hypochromic	Sideroblastic Anemia 1
Anemia Hypochromic	X Chromosome-Linked Sideroblastic Anemia
Sideroblastic Anaemia 1	X-Linked Sideroblastic Anaemia
Anemia Hereditary Sideroblastic	Anemia Sex-Linked Hypochromic Sideroblastic
Congenital Sideroblastic Anemia	Sideroblastic Anemia X-Linked
Anemia, Sex-Linked Hypochromic Sideroblastic	Congenital Sideroblastic Anaemia
X-Linked Pyridoxine-Responsive Sideroblastic Anemia	Anemia Congenital Sideroblastic
Anemia, Sideroblastic, Type 1	Sex-Linked Hypochromic Sideroblastic Anaemia
Autosomal Recessive Sideroblastic Anaemia	Familial Sex Linked Hypochromic Anaemia

Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay

SIFD	Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome
Sifd Syndrome

Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunctions Syndrome	Fatal Multiple Mitochondrial Dysfunction Syndrome
Mmds	Multiple Mitochondrial Dysfunction Syndrome
Mitochondrial Dysfunctions, Multiple, Syndrome	Multiple Mitochondrial Dysfunctions Syndrome 1

Protoporphyria, Erythropoietic, 1

Erythropoietic Protoporphyria	Epp
Ferrochelatase Deficiency	Protoporphyria, Erythropoietic
Erythrohepatic Protoporphyria	Heme Synthetase Deficiency
Autosomal Erythropoietic Protoporphyria	EPP1
Protoporphyria	Protoporphyria Erythropoietic

Autosomal Recessive Cerebellar Ataxia

Arca

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06386	HSCB 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	HSCB	VGNC	VGNC:107710
Macaca mulatta	HSCB	VGNC	VGNC:73454
Mus musculus	HSCB	MGD	MGI:2141135
Canis familiaris	HSCB	VGNC	VGNC:41796
Rattus norvegicus	HSCB	RGD	RGD:1311005
Bos taurus	HSCB	VGNC	VGNC:29964
Others	HSCB	NCBI

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