UQCRC1 - ubiquinol-cytochrome c reductase core protein 1 Gene

中文名称：泛醇-细胞色素 c 还原酶核心蛋白 1

种属: Homo sapiens

同用名: QCR1; PKNPY; UQCR1; D3S3191

基因 ID: 7384 | 基因类型: protein coding

关于 UQCRC1

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,599,002-48,609,646 (from NCBI)

This gene has 10 transcripts (splice variants), 212 orthologues, 6 paralogues and is associated with 1 phenotype. Ubiquitous expression in heart (RPKM 170.6), kidney (RPKM 96.0) and 25 other tissues.

功能概要

启用泛素蛋白连接酶结合活性。预测参与氧化磷酸化。预计在线粒体电子传递上游或内部起作用，泛醇到细胞色素 c。位于线粒体中。与阿尔茨海默病有关。阿尔茨海默病的生物标志物。 [由基因组资源联盟提供，2022 年 4 月]

Enables ubiquitin protein Ligase binding activity. Predicted to be involved in Oxidative Phosphorylation. Predicted to act upstream of or within mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]

UQCRC1 基因产物(1)

mRNA	Protein	Name
NM_003365.3	NP_003356.2	cytochrome b-c1 complex subunit 1, mitochondrial precursor

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	32161263	GOA
enables ubiquitin protein ligase binding	IPI IPI: 通过物理相互作用推断	19725078	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

UQCRC1 蛋白结构

Peptidase_M16

Peptidase_M16_C

0
100
200
300
400
480 a.a.

蛋白主名

其他名称

cytochrome b-c1 complex subunit 1, mitochondrial

complex III subunit 1

UQCRC1 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	UQCRC1	P31930	C2orf15	Homo sapiens	Q8WU43	Validated Y2H	32814053
Intra	UQCRC1	P31930	C2orf15	Homo sapiens	Q8WU43	Y2H Array	32814053
Intra	UQCRC1	P31930	C2orf15	Homo sapiens	Q8WU43	Y2H Pooling	32814053
Intra	UQCRC1	P31930	THAP3	Homo sapiens	Q8WTV1	Validated Y2H	32814053
Intra	UQCRC1	P31930	THAP3	Homo sapiens	Q8WTV1	Y2H Array	32814053
Intra	UQCRC1	P31930	THAP3	Homo sapiens	Q8WTV1	Y2H Pooling	32814053
Intra	UQCRC1	P31930	CCNJL	Homo sapiens	Q8IV13	Validated Y2H	32814053
Intra	UQCRC1	P31930	CCNJL	Homo sapiens	Q8IV13	Y2H Pooling	32814053
Intra	UQCRC1	P31930	CCNJL	Homo sapiens	Q8IV13	Y2H Array	32814053
Intra	UQCRC1	P31930	MIER1	Homo sapiens	Q8N108-16	Y2H Array	32814053
Intra	UQCRC1	P31930	MIER1	Homo sapiens	Q8N108-16	Validated Y2H	32814053
Intra	UQCRC1	P31930	MIER1	Homo sapiens	Q8N108-16	Y2H Pooling	32814053
Intra	UQCRC1	P31930	NPHP1	Homo sapiens	C9J082	Y2H Pooling	32814053
Intra	UQCRC1	P31930	NPHP1	Homo sapiens	C9J082	Validated Y2H	32814053
Intra	UQCRC1	P31930	NPHP1	Homo sapiens	C9J082	Y2H Array	32814053
Intra	UQCRC1	P31930	ARHGDIB	Homo sapiens	P52566	Y2H Pooling	32814053
Intra	UQCRC1	P31930	ARHGDIB	Homo sapiens	P52566	Validated Y2H	32814053
Intra	UQCRC1	P31930	ARHGDIB	Homo sapiens	P52566	Y2H Array	32814053
Intra	UQCRC1	P31930	PRMT5	Homo sapiens	O14744	Y2H Array	32814053
Intra	UQCRC1	P31930	PRMT5	Homo sapiens	O14744	Validated Y2H	32814053
Intra	UQCRC1	P31930	PRMT5	Homo sapiens	O14744	Y2H Pooling	32814053
Intra	UQCRC1	P31930	ZNF232	Homo sapiens	Q9UNY5	Validated Y2H	32814053
Intra	UQCRC1	P31930	ZNF232	Homo sapiens	Q9UNY5	Y2H Array	32814053
Intra	UQCRC1	P31930	ZNF232	Homo sapiens	Q9UNY5	Y2H Pooling	32814053
Intra	UQCRC1	P31930	BECN1	Homo sapiens	Q14457	Y2H Array	32814053
Intra	UQCRC1	P31930	BECN1	Homo sapiens	Q14457	Y2H Pooling	32814053
Intra	UQCRC1	P31930	BECN1	Homo sapiens	Q14457	Validated Y2H	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

Parkinsonism With Polyneuropathy

PKNPY

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Polyneuropathy

Polyneuropathies

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

Mitochondrial Complex V Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency Nuclear Type 5	MC5DN3
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Mitochondrial Complex V Deficiency Nuclear Type 3
MC3DN5	Mitochondrial Complex V Deficiency, Atp5e Type
Mitochondrial Complex Iii Deficiency, Nuclear 5	Mitochondrial Complex V Deficiency, Nuclear Type 3
Mitochondrial Complex V Deficiency Atp5e Type	Mitochondrial Complex V Deficiency Type 3
Mitochondrial Complex V Deficiency, Nuclear, Type 3

Mitochondrial Complex Iv Deficiency, Nuclear Type 5

Leigh Syndrome, French Canadian Type	Mitochondrial Complex V Deficiency Nuclear Type 4
Cytochrome C Oxidase Deficiency, French Canadian Type	Lsfc
Cox Deficiency, French Canadian Type	MC5DN4
MC4DN5	Cox Deficiency, Saguenay-Lac-Saint-Jean Type
Leigh Syndrome, Saguenay-Lac-Saint-Jean Type	Mitochondrial Complex V Deficiency, Nuclear Type 4
French Canadian Leigh Disease	Leigh Syndrome, French-Canadian Type
Leigh Syndrome , French Canadian Type	Mitochondrial Complex V Deficiency, Atp5a1 Type
French Canadian Type Cox Deficiency	French Canadian Type Cytochrome C Oxidase Deficiency
French Canadian Type Leigh Syndrome	Saguenay Lac Saint Jean Type Cox Deficiency
Saguenay Lac Saint Jean Type Leigh Syndrome	Cox Deficiency, Saguenay Lac Saint Jean Type
Leigh Syndrome, Saguenay Lac Saint Jean Type	Mitochondrial Complex V Deficiency, Nuclear Type 4
Mitochondrial Complex V Deficiency Atp5a1 Type	Mitochondrial Complex V Deficiency Type 4
Mitochondrial Complex V Deficiency, Nuclear, Type 4

Mitochondrial Complex Iii Deficiency

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

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

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-RS15499	UQCRC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	UQCRC1	RGD	RGD:1303314
Macaca mulatta	UQCRC1	VGNC	VGNC:78729
Mus musculus	UQCRC1	MGD	MGI:107876
Felis catus	UQCRC1	VGNC	VGNC:66848
Bos taurus	UQCRC1	VGNC	VGNC:36695
Canis familiaris	UQCRC1	VGNC	VGNC:48163

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