1. Gene
  2. CYBA - cytochrome b-245 alpha chain Gene

CYBA - cytochrome b-245 alpha chain Gene

中文名称:细胞色素 b-245 α 链

种属: Homo sapiens

同用名: CGD4; p22-PHOX

基因 ID: 1535 | 基因类型: protein coding

关于 CYBA

Cytogenetic location: 16q24.2 Genomic coordinates (GRCh38): 16:88,643,289-88,651,053 (from NCBI)

This gene has 17 transcripts (splice variants), 191 orthologues and is associated with 3 phenotypes. Broad expression in bone marrow (RPKM 72.4), spleen (RPKM 55.1) and 18 other tissues.

功能概要

细胞色素 b 由轻链 (α) 和重链 (β) 组成。该基因编码已被提议作为吞噬细胞杀微生物氧化酶系统的主要成分的轻α亚基。该基因的突变与常染色体隐性慢性肉芽肿病 (CGD) 相关,其特征是活化的吞噬细胞无法产生超氧化物,而超氧化物对于这些细胞的杀微生物活性很重要。[RefSeq 提供,2008 年 7 月]

Cytochrome b is comprised of a LIGHT chain (alpha) and a heavy chain (beta). This gene encodes the LIGHT, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]

CYBA 基因产物(1)

mRNA Protein Name
NM_000101.4 NP_000092.2 cytochrome b-245 light chain
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 SH3 domain binding IPI
IPI: 通过物理相互作用推断
7938008 GOA
enables electron transfer activity IDA
IDA: 通过直接分析推断
12042318 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
3305576 GOA
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
12042318 GOA
contributes to superoxide-generating NAD(P)H oxidase activity IMP
IMP: 通过突变表型推断
1763037 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cytochrome complex assembly IDA
IDA: 通过直接分析推断
7938008 GOA
involved in inflammatory response IMP
IMP: 通过突变表型推断
2243141 GOA
involved in innate immune response IMP
IMP: 通过突变表型推断
2243141 GOA
involved in positive regulation of defense response to bacterium IDA
IDA: 通过直接分析推断
22423966 GOA
involved in positive regulation of interleukin-6 production IDA
IDA: 通过直接分析推断
22423966 GOA
involved in positive regulation of phagocytosis IDA
IDA: 通过直接分析推断
22423966 GOA
involved in positive regulation of reactive oxygen species biosynthetic process IDA
IDA: 通过直接分析推断
22423966 GOA
involved in positive regulation of toll-like receptor 2 signaling pathway IDA
IDA: 通过直接分析推断
22423966 GOA
involved in positive regulation of tumor necrosis factor production IDA
IDA: 通过直接分析推断
22423966 GOA
involved in respiratory burst IMP
IMP: 通过突变表型推断
2243141 GOA
involved in superoxide anion generation IMP
IMP: 通过突变表型推断
2243141 GOA
involved in superoxide metabolic process IMP
IMP: 通过突变表型推断
1763037 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of NADPH oxidase complex IDA
IDA: 通过直接分析推断
3305576 GOA
part of NADPH oxidase complex IMP
IMP: 通过突变表型推断
1763037 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
17140397 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

CYBA 蛋白结构

Cytochrom_B558a

Cytochrom_B558a: Cytochrome Cytochrome b558 alpha-subunit (2 - 195)

  • 0
  • 100
  • 195 a.a.
蛋白主名 其他名称

cytochrome b-245 light chain

cytochrome b light chain

CYBA 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
Intra CYBA P13498 NOXO1 Homo sapiens Q8NFA2-3
Pull Down
23957209
Intra CYBA P13498 NCF1 Homo sapiens P14598
Far-WB
17803994
Intra CYBA P13498 NCF1 Homo sapiens P14598
NMR
16326715
Intra CYBA P13498 NOXO1 Homo sapiens Q8NFA2
Pull Down
16460309
Intra CYBA P13498 NOXO1 Homo sapiens Q8NFA2
Pull Down
17126813
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
Granulomatous Disease, Chronic, Autosomal Recessive, 4

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative

Cyba Deficiency

CGD4

Cgd Due To Deficiency Of The Alpha Subunit Of Cytochrome B

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Negative

Cgd, Autosomal Recessive Cytochrome B-Negative

Chronic Granulomatous Disease 4, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 4

Autosomal Recessive Cytochrome B-Negative Cgd

Chronic Granulomatous Disease Due To Deficiency Of Cyba

Cgd Due To Deficiency Of Alpha Subunit Of Cytochrome B

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative

Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive

Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Granulomatous Disease, Chronic, Autosomal Recessive, 1

Chronic Granulomatous Disease Due To Deficiency Of Ncf-1

CGD1

Ncf1 Deficiency

Soluble Oxidase Component Ii Deficiency

Soc2 Deficiency

P47-Phox Deficiency

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type I

Deficiency Of Neutrophil Cytosol Factor 1

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 1

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I

Cgd, Autosomal Recessive Cytochrome B-Positive, Type I

Granulomatous Disease, Chronic, Due To Ncf1 Deficiency

Neutrophil Cytosol Factor 1 Deficiency

Chronic Granulomatous Disease 1, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 1

Cdg1

Deficiency Of Ncf1

Deficiency Of P47-Phox

Deficiency Of Soc2

Deficiency Of Soluble Oxidase Component Ii

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type I

Chronic Granulomatous Disease Due To Ncf1 Deficiency

Granulomatous Disease, Chronic, X-Linked

CGDX

Chronic Granulomatous Disease, X-Linked

X-Linked Chronic Granulomatous Disease

Cgd

Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked

Cdgx

X-Linked Chronic Cytochrome B-Negative Granulomatous Disease

Chronic Granulomatous Disease Cytochrome B-Negative X-Linked

Chronic Granulomatous Disease Cytochrome B-Positive X-Linked

Granulomatous Disease, Chronic, X-Linked, Variant

Granulomatous Disease, Chronic, Autosomal Recessive, 2

Chronic Granulomatous Disease Due To Deficiency Of Ncf-2

CGD2

Ncf2 Deficiency

P67-Phox Deficiency

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii

Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii

Granulomatous Disease, Chronic, Due To Ncf2 Deficiency

Neutrophil Cytosol Factor 2 Deficiency

Chronic Granulomatous Disease 2, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 2

Cdg2

Deficiency Of Ncf2

Deficiency Of P67-Phox

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii

Deficiency Of Neutrophil Cytosol Factor 2

Avellino Corneal Dystrophy

Atherosclerosis Susceptibility

Atherosclerosis

Atherosclerosis, Susceptibility To

ATHS

Atherogenic Lipoprotein Phenotype

Alp

Arteriosclerosis

Cardiovascular System Disease

Abnormality Of The Cardiovascular System

Cardiovascular Disease

Disease Of Subdivision Of Hemolymphoid System

Disorder Of Cardiovascular System

Cardiovascular Diseases

Lung Abscess

Apical Lung Abscess

Abscess Of Lung

Abscess Of Lung Nos

Pulmonary Abscess

Multiple Abscess Of Lung

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder

LPAQTL

Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital

Chd

Coronary Syndrome

Congenital Malformations Of Coronary Vessels

Malformation Of Coronary Vessels

Congenital Coronary Artery Anomaly

Congenital Coronary Artery Deformity

Congenital Coronary Artery Disorder

Abnormal Coronary Artery

Congenital Coronary Artery Malposition

Congenital Coronary Disease

Congenital Anomaly Of Coronary Arteries

Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Diabetes Mellitus

Diabetes

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

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 CYBA VGNC VGNC:49140
Felis catus CYBA VGNC VGNC:61312
Canis familiaris CYBA VGNC VGNC:50284
Mus musculus CYBA MGD MGI:1316658
Rattus norvegicus CYBA RGD RGD:620573
Macaca mulatta CYBA VGNC VGNC:71575