1. Gene
  2. UQCRQ - ubiquinol-cytochrome c reductase complex III subunit VII Gene

UQCRQ - ubiquinol-cytochrome c reductase complex III subunit VII Gene

中文名称:泛醇-细胞色素 c 还原酶复合物 III 亚基 VII

种属: Homo sapiens

同用名: QPC; QCR8; QP-C; UQCR7; MC3DN4

基因 ID: 27089 | 基因类型: protein coding

关于 UQCRQ

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,866,642-132,868,847 (from NCBI)

This gene has 6 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 47.2), colon (RPKM 46.6) and 25 other tissues.

功能概要

该基因编码一种低分子量的泛醌结合蛋白。该蛋白是一种小的核心相关蛋白,是泛醇-细胞色素 c 还原酶复合物 III 的一个亚基,是线粒体呼吸链的一部分。[RefSeq 提供,2008 年 7 月]

This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]

UQCRQ 基因产物(1)

mRNA Protein Name
NM_014402.5 NP_055217.2 cytochrome b-c1 complex subunit 8
基因本体论
  • 细胞组分
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

UQCRQ 蛋白结构

UcrQ

UcrQ: UcrQ family (2 - 81)

  • 0
  • 82 a.a.
蛋白主名 其他名称

cytochrome b-c1 complex subunit 8

complex III subunit 8

关联疾病

疾病名称 别名
Mitochondrial Complex Iii Deficiency, Nuclear Type 4

Mitochondrial Complex Iii Deficiency Nuclear Type 4

MC3DN4

Mitochondrial Complex Iv Deficiency, Nuclear Type 3

MC4DN3

Mitochondrial Complex 4 Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency, Nuclear 4

Mitochondrial Complex Iv Deficiency, Nuclear, Type 3

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

Mitochondrial Complex Iii Deficiency

Complex 3 Mitochondrial Respiratory Chain Deficiency

Isolated Coq-Cytochrome C Reductase Deficiency

Ubiquinone-Cytochrome C Oxidoreductase Deficiency

Thyroid Hurthle Cell Adenoma

Benign Oncocytoma Of The Thyroid

Thyroid Gland Oncocytic Adenoma

Otosalpingitis

Eustachian Salpingitis

Eustachian Tube Salpingitis

Rhinosalpingitis

Tubotympanitis

Eustachian Tube Inflammation

Salpingitis Of Ear

Combined Oxidative Phosphorylation Deficiency 22

COXPD22

Oxidative Phosphorylation Deficiency, Combined, Type 22

Mitochondrial Complex V Deficiency, Mitochondrial Type 1

MC5DM1

Mitochondrial Complex V Deficiency Mitochondrial Type 1

Mitochondrial Complex V Deficiency, Mitochondrial 1

Adult-Onset Ataxia And Polyneuropathy

Infantile Hypertrophic Cardiomyopathy

Mitochondrial Complex 5 Deficiency, Mitochondrial Type 1

Eustachian Tube Disease

Eustachian Tube Disorder

Auditory Tube Disorder

Disease Of Eustachian Tube

Eustachian Tube Dysfunction

Et- [Eustachian Tube Disorder]

Etd - [Eustachian Tube Dysfunction]

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

Non-Suppurative Otitis Media

Nonsuppurative Otitis Media

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus UQCRQ VGNC VGNC:36697
Rattus norvegicus UQCRQ RGD RGD:1562350
Mus musculus UQCRQ MGD MGI:107807
Canis familiaris UQCRQ VGNC VGNC:48165
Felis catus UQCRQ VGNC VGNC:66850
Macaca mulatta UQCRQ VGNC VGNC:110422