2. Gene
  3. COX19 - cytochrome c oxidase assembly factor COX19 Gene

COX19 - cytochrome c oxidase assembly factor COX19 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：细胞色素 c 氧化酶组装因子 COX19

种属: Homo sapiens

基因 ID: 90639 | 基因类型: protein coding

关于 COX19

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:964,852-975,549 (from NCBI)

This gene has 4 transcripts (splice variants), 146 orthologues and 1 paralogue. Ubiquitous expression in skin (RPKM 2.7), duodenum (RPKM 2.6) and 25 other tissues.

功能概要

COX19 编码细胞色素 c 氧化酶 (COX) 组装蛋白。酿酒酵母 Cox19 蛋白可能在金属转运至线粒体膜间隙和组装线粒体呼吸链复合物 IV 中发挥作用 (Sacconi 等人，2005 [PubMed 16212937]) 。[OMIM 提供，2008 年 3 月]

COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008]

COX19 基因产物(1)

mRNA Protein Name
NM_001031617.3 NP_001026788.1 cytochrome c oxidase assembly protein COX19
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
23676665 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular copper ion homeostasis IMP
IMP: 通过突变表型推断
23345593 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
23345593 GOA
located in mitochondrial intermembrane space IDA
IDA: 通过直接分析推断
23345593 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
23345593 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

COX19 蛋白结构

CHCH

CHCH: CHCH domain (30 - 64)

  • 0
  • 90 a.a.
蛋白主名 其他名称

cytochrome c oxidase assembly protein COX19

COX19 cytochrome c oxidase assembly homolog

关联疾病

疾病名称 别名
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
Menkes Disease

Copper Transport Disease

Menkes Syndrome

MNK

Kinky Hair Disease

Steely Hair Disease

Menkes Kinky-Hair Syndrome

Mk

Steely Hair Syndrome

Menkea Syndrome

Md

Menkes Kinky Hair Syndrome

Hypocupremia, Congenital

Kinky Hair Syndrome

X-Linked Copper Deficiency

Menkes Kinky Hair Disease
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03062 COX19 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus COX19 RGD RGD:1305631
Bos taurus COX19 VGNC VGNC:27632
Mus musculus COX19 MGD MGI:1915283
Canis familiaris COX19 VGNC VGNC:39538
Felis catus COX19 VGNC VGNC:107751
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