COX14 - cytochrome c oxidase assembly factor COX14 Gene

中文名称：细胞色素 c 氧化酶组装因子 COX14

种属: Homo sapiens

同用名: PCAG1; MC4DN10; C12orf62

基因 ID: 84987 | 基因类型: protein coding

关于 COX14

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:50,112,236-50,120,453 (from NCBI)

This gene has 4 transcripts (splice variants), 108 orthologues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 29.8), heart (RPKM 27.0) and 25 other tissues.

功能概要

该基因编码一种小的单次跨膜蛋白，定位于线粒体。这种蛋白质可能在协调细胞色素 c 氧化酶 (COX；也称为复合物 IV) 亚基组装的早期步骤中发挥作用，特别是在全酶的 COX I 亚基的合成和组装中。该基因的突变与线粒体复合物 IV 缺陷有关。可变剪接导致多个转录本变体。[RefSeq 提供，2012 年 11 月]

This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

COX14 基因产物(3)

mRNA	Protein	Name
NM_001257133.2	NP_001244062.1	cytochrome c oxidase assembly protein COX14
NM_001257134.2	NP_001244063.1	cytochrome c oxidase assembly protein COX14
NM_032901.4	NP_116290.1	cytochrome c oxidase assembly protein COX14

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	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mitochondrial cytochrome c oxidase assembly	IMP IMP: 通过突变表型推断	22243966	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial outer membrane	IDA IDA: 通过直接分析推断	27184847	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	22243966	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

COX14 蛋白结构

COX14

0
57 a.a.

蛋白主名

其他名称

cytochrome c oxidase assembly protein COX14

COX14 cytochrome c oxidase assembly homolog

COX14 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	COX14	Q96I36	MESD	Homo sapiens	Q14696	Y2H Array	32296183
种属内	COX14	Q96I36	MESD	Homo sapiens	Q14696	Y2H Prey Pooling	32296183

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 Iv Deficiency, Nuclear Type 10

MC4DN10

Mitochondrial Complex 4 Deficiency, Nuclear Type 10

Isolated Cytochrome C Oxidase Deficiency

Isolated Cox Deficiency

Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency

Renal Hypoplasia

Non-Syndromic X-Linked Intellectual Disability 9

Mrx44	Mrx9
X-Linked Mental Retardation 44

Metabolic Acidosis

Cerebral Amyloid Angiopathy, App-Related

Hchwad	Amyloidosis, Cerebroarterial, App-Related
Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant	Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
Cerebral Amyloid Angiopathy, App-Related, Iowa Variant	Cerebral Amyloid Angiopathy, App-Related, Italian Variant
Cerebral Amyloid Angiopathy, App-Related, Flemish Variant	Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants	App-Related Cerebral Amyloid Angiopathy
Abetaa21g Amyloidosis	Abeta Amyloidosis, Italian Type
Abeta Amyloidosis, Arctic Type	Abeta Amyloidosis, Iowa Type
Abeta Amyloidosis, Dutch Type	Hchwa-D
Abeta Amyloidosis, Flemish Type	Abetaa21g-Related Amyloidosis
Hchwa, Flemish Type	Hereditary Cerebral Hemorrhage With Amyloidosis, Flemish Type
Abetae22k Amyloidosis	Hchwa, Italian Type
Hereditary Cerebral Hemorrhage With Amyloidosis, Italian Type	Abetae22g Amyloidosis
Hchwa, Arctic Type	Hereditary Cerebral Hemorrhage With Amyloidosis, Arctic Type
Abetad23n Amyloidosis	Hchwa, Iowa Type
Hereditary Cerebral Hemorrhage With Amyloidosis, Iowa Type	Abetal34v Amyloidosis
Abeta Amyloidosis, Piedmont Type	Abetal34v-Related Amyloidosis
Hchwa, Piedmont Type	Hereditary Cerebral Hemorrhage With Amyloidosis, Piedmont Type
Abetae22q Amyloidosis	Hchwa, Dutch Type
Hereditary Cerebral Hemorrhage With Amyloidosis, Dutch Type	CAA-APP
Amyloidosis Cerebroarterial App-Related	Amyloidosis Hereditary With Cerebral Hemorrhage Dutch Variant
Cerebral Amyloid Angiopathy App-Related Arctic Variant	Cerebral Amyloid Angiopathy App-Related Dutch Variant
Cerebral Amyloid Angiopathy App-Related Flemish Variant	Cerebral Amyloid Angiopathy App-Related Iowa Variant
Cerebral Amyloid Angiopathy App-Related Italian Variant	Familial Occipital Calcifications With Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia
Fochs-Ladd	Hereditary Cerebral Amyloid Angiopathy Dutch Type
Hereditary Cerebral Hemorrhage With Amyloidosis Dutch Type	Hereditary Cerebral Hemorrhage With Amyloidosis Italian Type
Cerebral Hemorrhage With Amyloidosis, Hereditary, Dutch Type

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

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency	Mitochondrial Complex Iv Deficiency
Cox Deficiency	Cytochrome-C Oxidase Deficiency Disease
MC1DN4	Cytochrome-C Oxidase Deficiency
MC4DN1	Mitochondrial Complex I Deficiency, Nuclear Type 4
Complex 4 Mitochondrial Respiratory Chain Deficiency	Complex Iv Deficiency
Mitochondrial Complex 1 Deficiency, Nuclear Type 4	Nuclear Type Mitochondrial Complex I Deficiency 4
Deficiency Of Mitochondrial Respiratory Chain Complex4	MT-C4D
Complex Iv Mitochondrial Respiratory Chain Deficiency	Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

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

Non-Syndromic X-Linked Intellectual Disability

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

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-RS03058	COX14 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	COX14	VGNC	VGNC:39534
Mus musculus	COX14	MGD	MGI:1913629
Rattus norvegicus	COX14	RGD	RGD:1598052
Bos taurus	COX14	VGNC	VGNC:27628

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站点地图隐私声明

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

COX14 - cytochrome c oxidase assembly factor COX14 Gene

关于 COX14

功能概要

COX14 基因产物(3)

COX14 蛋白结构

COX14 蛋白互作信息

关联疾病

直系同源

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COX14 - cytochrome c oxidase assembly factor COX14 Gene

关于 COX14

功能概要

COX14 基因产物(3)

COX14 蛋白结构

COX14 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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C

F

G

H

J

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Q

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