UQCRB - ubiquinol-cytochrome c reductase binding protein Gene

中文名称：泛醇-细胞色素 c 还原酶结合蛋白

种属: Homo sapiens

同用名: QPC; QCR7; QP-C; UQBC; UQBP; UQPC; UQCR6; MC3DN3

基因 ID: 7381 | 基因类型: protein coding

关于 UQCRB

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:96,222,947-96,235,545 (from NCBI)

This gene has 9 transcripts (splice variants), 273 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 51.3), kidney (RPKM 32.2) and 25 other tissues.

功能概要

该基因编码泛醇-细胞色素 c 氧化还原酶复合物的一个亚基，该复合物由一个线粒体编码亚基和 10 个核编码亚基组成。该基因编码的蛋白质与泛醌结合，并参与泛醌结合时的电子转移。该蛋白通过线粒体活性氧介导的信号传导在缺氧诱导的血管生成中发挥重要作用。该基因的突变与线粒体复合物 III 缺陷有关。已发现该基因的可变剪接转录物变体。已在 1 号、5 号和 X 号染色体上鉴定出相关的假基因。[RefSeq 提供，2011 年 12 月]

This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]

UQCRB 基因产物(3)

mRNA	Protein	Name
NM_001199975.3	NP_001186904.1	cytochrome b-c1 complex subunit 7 isoform 2
NM_001254752.2	NP_001241681.1	cytochrome b-c1 complex subunit 7 isoform 3
NM_006294.5	NP_006285.1	cytochrome b-c1 complex subunit 7 isoform 1

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial inner membrane	IDA IDA: 通过直接分析推断	28844695	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

UQCRB 蛋白结构

UCR_14kD

0
100
111 a.a.

蛋白主名

其他名称

cytochrome b-c1 complex subunit 7

complex III subunit 7

UQCRB 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
Intra	UQCRB	P14927	MAGEA4	Homo sapiens	Q1RN33	Y2H Array	25416956
Intra	UQCRB	P14927	MAGEA4	Homo sapiens	Q1RN33	Y2H Prey Pooling	25416956
Intra	UQCRB	P14927	LARP4B	Homo sapiens	Q92615	Y2H Pooling	32814053
Intra	UQCRB	P14927	LARP4B	Homo sapiens	Q92615	Validated Y2H	32814053
Intra	UQCRB	P14927	LARP4B	Homo sapiens	Q92615	Y2H Array	32814053
Intra	UQCRB	P14927	FYN	Homo sapiens	P06241-3	Validated Y2H	32814053
Intra	UQCRB	P14927	FYN	Homo sapiens	P06241-3	Y2H Array	32814053
Intra	UQCRB	P14927	FYN	Homo sapiens	P06241-3	Y2H Pooling	32814053
Intra	UQCRB	P14927	HPCA	Homo sapiens	P84074	Validated Y2H	32296183
Intra	UQCRB	P14927	CYC1	Homo sapiens	P08574	Anti Tag CoIP	33961781
Intra	UQCRB	P14927	THAP3	Homo sapiens	Q8WTV1	Validated Y2H	32814053
Intra	UQCRB	P14927	THAP3	Homo sapiens	Q8WTV1	Y2H Array	32814053
Intra	UQCRB	P14927	THAP3	Homo sapiens	Q8WTV1	Y2H Pooling	32814053
Intra	UQCRB	P14927	DPP9	Homo sapiens	Q86TI2-2	Y2H Pooling	32814053
Intra	UQCRB	P14927	DPP9	Homo sapiens	Q86TI2-2	Validated Y2H	32814053
Intra	UQCRB	P14927	DPP9	Homo sapiens	Q86TI2-2	Y2H Array	32814053
Intra	UQCRB	P14927	KIAA0355	Homo sapiens	A1A512	Validated Y2H	32814053
Intra	UQCRB	P14927	KIAA0355	Homo sapiens	A1A512	Y2H Array	32814053
Intra	UQCRB	P14927	KIAA0355	Homo sapiens	A1A512	Y2H Pooling	32814053
Intra	UQCRB	P14927	ZSWIM7	Homo sapiens	Q19AV6	Validated Y2H	32296183
Intra	UQCRB	P14927	ITGB3BP	Homo sapiens	Q13352	Y2H Pooling	32814053
Intra	UQCRB	P14927	ITGB3BP	Homo sapiens	Q13352	Validated Y2H	32814053
Intra	UQCRB	P14927	ITGB3BP	Homo sapiens	Q13352	Y2H Array	32814053
Intra	UQCRB	P14927	MAGEA4	Homo sapiens	P43358	Validated Y2H	32296183
Intra	UQCRB	P14927	MAGEA4	Homo sapiens	P43358	Y2H Array	32296183
Intra	UQCRB	P14927	MAGEA4	Homo sapiens	P43358	Y2H Prey Pooling	32296183
Intra	UQCRB	P14927	ACCS	Homo sapiens	Q96QU6	Validated Y2H	25416956
Intra	UQCRB	P14927	ACCS	Homo sapiens	Q96QU6	Y2H Array	25416956
Intra	UQCRB	P14927	ACAP1	Homo sapiens	Q15027	Validated Y2H	32296183
Intra	UQCRB	P14927	BECN1	Homo sapiens	Q14457	Y2H Pooling	32814053
Intra	UQCRB	P14927	BECN1	Homo sapiens	Q14457	Validated Y2H	32814053
Intra	UQCRB	P14927	BECN1	Homo sapiens	Q14457	Y2H Array	32814053

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

Mitochondrial Complex Iii Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency Nuclear Type 3	MC3DN3
Mitochondrial Complex Iii Deficiency, Nuclear 3

Mitochondrial Complex Iii Deficiency

Complex 3 Mitochondrial Respiratory Chain Deficiency	Isolated Coq-Cytochrome C Reductase Deficiency
Ubiquinone-Cytochrome C Oxidoreductase Deficiency

Mitochondrial Complex Iii Deficiency, Nuclear Type 1

MC1DN3	Mitochondrial Complex Iii Deficiency Nuclear Type 1
MC3DN1	Mitochondrial Complex I Deficiency, Nuclear Type 3
Mitochondrial Complex 1 Deficiency, Nuclear Type 3	Nuclear Type Mitochondrial Complex I Deficiency 3
Renal Tubulopathy-Encephalopathy-Liver Failure Syndrome	Mitochondrial Complex Iii Deficiency, Nuclear 1
Complex 3 Mitochondrial Respiratory Chain Deficiency	Complex Iii Mitochondrial Respiratory Chain Deficiency
Mitochondrial Complex Iii Deficiency, Nuclear, Type 1 ]

Isolated Complex Iii Deficiency

Isolated Coq-Cytochrome C Reductase Deficiency	Isolated Coenzyme Q-Cytochrome C Reductase Deficiency
Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency	Isolated Ubiquinone-Cytochrome C Reductase Deficiency

Gracile Syndrome

Finnish Lethal Neonatal Metabolic Syndrome	Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death
Flnms	Fellman Syndrome
Fellman Disease	Finnish Lactic Acidosis With Hepatic Hemosiderosis
Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome	Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome
Lactic Acidosis, Finnish, With Hepatic Hemosiderosis	Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death
GRACILE

Bjornstad Syndrome

BJS	Pili Torti And Nerve Deafness
Ptd	Pili Torti-Deafness Syndrome
Deafness-Pili Torti-Hypogonadism Syndrome	Deafness And Pili Torti, Bjornstad Type
Pili Torti-Sensorineural Hearing Loss	Björnstad Syndrome
Ptnd	Hearing Loss-Pili Torti-Hypogonadism Syndrome
Bjoernstad 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-RS15498	UQCRB Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	UQCRB	MGD	MGI:1914780
Rattus norvegicus	UQCRB	RGD	RGD:1311971
Bos taurus	UQCRB	VGNC	VGNC:36694
Macaca mulatta	UQCRB	VGNC	VGNC:84134

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