LYRM7 - LYR motif containing 7 Gene

中文名称：含 LYR 基序 7

种属: Homo sapiens

同用名: MZM1L; MC3DN8; C5orf31

基因 ID: 90624 | 基因类型: protein coding

关于 LYRM7

Cytogenetic location: 5q23.3-q31.1 Genomic coordinates (GRCh38): 5:131,170,944-131,205,428 (from NCBI)

This gene has 4 transcripts (splice variants), 195 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 5.8), thyroid (RPKM 4.7) and 24 other tissues.

功能概要

线粒体内膜复合物 III (CIII) 是线粒体呼吸链中的主要酶复合物，Rieske Fe-S 蛋白 (UQCRFS1) 是添加到复合物中的最后一个催化亚基。该基因编码的蛋白质是核编码的线粒体基质蛋白，可稳定 UQCRFS1 并将其陪伴到 CIII 复合体。该基因的缺陷是导致线粒体复合物 III 缺陷 (8 型核) 的原因。已发现该基因的三种转录变体编码两种不同的亚型。[RefSeq 提供，2014 年 6 月]

Inner mitochondrial membrane complex III (CIII) is the main Enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

LYRM7 基因产物(2)

mRNA	Protein	Name
NM_001293735.2	NP_001280664.1	complex III assembly factor LYRM7 isoform 2
NM_181705.4	NP_859056.2	complex III assembly factor LYRM7 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 protein binding	IPI IPI: 通过物理相互作用推断	23168492	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular respiration	IDA IDA: 通过直接分析推断	23168492	GOA
involved in mitochondrial respiratory chain complex III assembly	IDA IDA: 通过直接分析推断	23168492	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial matrix	IDA IDA: 通过直接分析推断	23168492	GOA
located in mitochondrial membrane	IDA IDA: 通过直接分析推断	23168492	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

LYRM7 蛋白结构

Complex1_LYR

0
104 a.a.

蛋白主名

其他名称

complex III assembly factor LYRM7

LYR motif-containing protein 7

LYRM7 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	LYRM7	Q5U5X0	UQCRFS1	Homo sapiens	P47985	Anti Tag CoIP	27499296
种属内	LYRM7	Q5U5X0	UQCRFS1	Homo sapiens	P47985	Anti Bait CoIP	28380382
种属内	LYRM7	Q5U5X0	UQCRFS1	Homo sapiens	P47985	Anti Tag CoIP	28380382
种属内	LYRM7	Q5U5X0	HSCB	Homo sapiens	Q8IWL3	Anti Tag CoIP	28380382
种属内	LYRM7	Q5U5X0	HSCB	Homo sapiens	Q8IWL3	Anti Bait CoIP	28380382

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 8

Mitochondrial Complex Iii Deficiency Nuclear Type 8	MC3DN8
Mitochondrial Complex Iii Deficiency, Nuclear 8

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

Chromosome Xp11.22 Duplication Syndrome

Mrx17	Mental Retardation, X-Linked 31
Mrx31	Xp11.22 Microduplication Syndrome
X-Linked Mental Retardation 31	Mental Retardation, X-Linked 17

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

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

Combined Oxidative Phosphorylation Deficiency 18

Growth And Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome	COXPD18
Combined Oxidative Phosphorylation Deficiency, Type 18

Charcot-Marie-Tooth Disease, Type 4k

Charcot-Marie-Tooth Disease Type 4k	CMT4K
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k	Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k
Surf1-Related Charcot-Marie-Tooth Disease Type 4	Surf1-Related Cmt4
Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease	Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k	Charcot-Marie-Tooth Disease 4k
Charcot-Marie-Tooth Disease, Demyelinating, Type 4k	Charcot-Marie-Tooth Neuropathy, Type 4k

Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria

2-Aminoadipic 2-Oxoadipic Aciduria	Amoxad
AAKAD	2-Ketoadipic Aciduria
Alpha-Aminoadipic Aciduria	Amino Adipic Aciduria
Aciduria, 2-Aminoadipic 2-Oxoadipic

Charcot-Marie-Tooth Disease, Axonal, Type 2ee

CMT2EE	Charcot-Marie-Tooth Neuropathy, Type 2ee
Charcot-Marie-Tooth Disease Type 2ee	Charcot-Marie-Tooth Disease, Axonal, 2ee

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

Combined Oxidative Phosphorylation Deficiency 19

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

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

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency	Fatal Infantile Cox Deficiency
Fatal Infantile Cytochrome C Oxidase Deficiency	Fatal Infantile Encephalocardiomyopathy

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

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07925	LYRM7 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	LYRM7	VGNC	VGNC:63346
Bos taurus	LYRM7	VGNC	VGNC:31111
Rattus norvegicus	LYRM7	RGD	RGD:1596391
Mus musculus	LYRM7	MGD	MGI:1922780
Macaca mulatta	LYRM7	VGNC	VGNC:74376
Canis familiaris	LYRM7	VGNC	VGNC:42895

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