2. Gene
  3. COX7B - cytochrome c oxidase subunit 7B Gene

COX7B - cytochrome c oxidase subunit 7B Gene

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

中文名称：细胞色素 c 氧化酶亚基 7B

种属: Homo sapiens

同用名: APLCC; LSDMCA2

基因 ID: 1349 | 基因类型: protein coding

关于 COX7B

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:77,899,468-77,907,376 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in heart (RPKM 234.2), kidney (RPKM 174.2) and 24 other tissues.

功能概要

细胞色素 c 氧化酶 (COX) 是线粒体呼吸链的末端组分，它催化电子从还原的细胞色素 c 转移到氧气。该组分是由线粒体基因编码的 3 个催化亚基和核基因编码的多个结构亚基组成的异聚复合物。线粒体编码的亚基在电子传递中起作用，而核编码的亚基可能在复合物的调节和组装中起作用。该核基因编码 VIIb 亚基，与牛 COX VIIb 蛋白高度相似，存在于所有组织中。该基因可能在 1、2、20 和 22 号染色体上有多个假基因。[RefSeq 提供，2011 年 6 月]

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]

COX7B 基因产物(1)

mRNA Protein Name
NM_001866.3 NP_001857.1 cytochrome c oxidase subunit 7B, mitochondrial precursor
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 central nervous system development IMP
IMP: 通过突变表型推断
23122588 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
30030519 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

COX7B 蛋白结构

COX7B

COX7B: Cytochrome C oxidase chain VIIB (1 - 80)

  • 0
  • 80 a.a.
蛋白主名 其他名称

cytochrome c oxidase subunit 7B, mitochondrial

cytochrome c oxidase polypeptide VIIb

COX7B 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
COX7B P24311 GNMT Homo sapiens Q14749
Validated Y2H
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
Linear Skin Defects With Multiple Congenital Anomalies 2

LSDMCA2

Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism, And Other Congenital Anomalies

Aplcc

Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism And Other Congenital Anomalies
Linear Skin Defects With Multiple Congenital Anomalies 1

Midas Syndrome

Mcops7

Mls Syndrome

Microphthalmia, Syndromic 7

Microphthalmia With Linear Skin Defects Syndrome

Microphthalmia With Linear Skin Defects

Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome

Syndromic Microphthalmia Type 7

LSDMCA1

Mls

Microphthalmia, Dermal Aplasia, And Sclerocornea

Microphthalmia With Linear Skin Defect Syndrome

Syndromic Microphthalmia 7

Linear Skin Defects With Multiple Congenital Anomalies

Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome

Microphthalmia Dermal Aplasia And Sclerocornea Syndrome

Micropthalmia Syndromic 7

Microphthalmia Syndromic 7

Microphthalmia With Linear Skin Lesions Syndrome

Syndromic Microphthalmia-7

Microphthalmia, Dermal Aplasia And Sclerocornea

Microphthalmia, Syndromic, 7

Midas
Linear Skin Defects With Multiple Congenital Anomalies 3

LSDMCA3

Linear Skin Defects With Cardiomyopathy And Other Congenital Anomalies

Skin Defects, Linear, With Multiple Congenital Anomalies, Type 3
Thyroid Hurthle Cell Adenoma

Benign Oncocytoma Of The Thyroid

Thyroid Gland Oncocytic Adenoma
Aplasia Cutis Congenita

Aplasia Cutis Congenita Of Limbs Recessive

Congenital Absence Of Skin On The Upper Or Lower Limbs

Recessive Aplasia Cutis Congenita Of The Limbs

Aplasia Cutis Congenita Nonsyndromic

Congenital Defect Of Skull And Scalp

Scalp Defect Congenital
Bjornstad Syndrome

BJS

Pili Torti And Nerve Deafness

Ptd

Pili Torti-Deafness Syndrome

Deafness-Pili Torti-Hypogonadism Syndrome

Deafness And Pili Torti, Bjornstad Type

Pili Torti-Sensorineural Hearing Loss

Björnstad Syndrome

Ptnd

Hearing Loss-Pili Torti-Hypogonadism Syndrome

Bjoernstad Syndrome
Sclerocornea

Isolated Congenital Sclerocornea
Orbital Cyst
Combined Oxidative Phosphorylation Deficiency 6

Severe X-Linked Mitochondrial Encephalomyopathy

COXPD6

Mitochondrial Encephalomyopathy Due To Combined Oxidative Phosphorylation Defect 6

Mitochondrial Encephalomyopathy Due To Coxpd6

Encephalomyopathy, Mitochondrial, X-Linked

Encephalomyopathy Mitochondrial X-Linked

Oxidative Phosphorylation Deficiency, Combined, Type 6
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
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-RS03076 COX7B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus COX7B MGD MGI:1913392
Macaca mulatta COX7B VGNC VGNC:103801
Rattus norvegicus COX7B RGD RGD:727789
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