1. Gene
  2. NCF4 - neutrophil cytosolic factor 4 Gene

NCF4 - neutrophil cytosolic factor 4 Gene

中文名称:中性粒细胞胞质因子 4

种属: Homo sapiens

同用名: NCF; CGD3; P40PHOX; SH3PXD4

基因 ID: 4689 | 基因类型: protein coding

关于 NCF4

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:36,861,006-36,878,015 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 201 orthologues, 12 paralogues and is associated with 3 phenotypes. Biased expression in bone marrow (RPKM 51.6), appendix (RPKM 18.9) and 11 other tissues.

功能概要

该基因编码的蛋白质是产生超氧化物的吞噬细胞 NADPH 氧化酶的细胞溶质调节成分,NADPH 氧化酶是一种对宿主防御很重要的多成分酶系统。这种蛋白质优先在骨髓系细胞中表达。它主要与中性粒细胞胞质因子 2 (NCF2/p67-phox) 相互作用,与中性粒细胞胞质因子 1 (NCF1/p47-phox) 形成复合物,后者进一步与小 G 蛋白 RAC1 相互作用,并在细胞刺激后转移至细胞膜。然后,该复合物激活黄素细胞色素 b,即酶系统的膜整合催化核心。这种蛋白质的 PX 域可以结合 PI (3) 激酶的磷脂产物,这表明它在 PI (3) 激酶介导的信号事件中的作用。发现这种蛋白质的磷酸化会负向调节酶活性。已经观察到编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent Enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the Enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the Enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

NCF4 基因产物(2)

mRNA Protein Name
NM_000631.5 NP_000622.2 neutrophil cytosol factor 4 isoform 1
NM_013416.4 NP_038202.2 neutrophil cytosol factor 4 isoform 2
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 phosphatidylinositol-3-phosphate binding IDA
IDA: 通过直接分析推断
11684018 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8280052 GOA
enables superoxide-generating NADPH oxidase activator activity IMP
IMP: 通过突变表型推断
8280052 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in superoxide anion generation IMP
IMP: 通过突变表型推断
8280052 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
8280052 GOA
located in cytosol IDA
IDA: 通过直接分析推断
8280052 GOA
located in endosome membrane IDA
IDA: 通过直接分析推断
11684018 GOA
located in membrane IDA
IDA: 通过直接分析推断
8280052 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

NCF4 蛋白结构

PX

PX: PX domain (25 - 135)

SH3_1

SH3_1: SH3 domain (177 - 220)

PB1

PB1: PB1 domain (237 - 329)

  • 0
  • 100
  • 200
  • 300
  • 339 a.a.
蛋白主名 其他名称

neutrophil cytosol factor 4

NCF-4

NCF4 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 NCF4 Q15080 NCF1 Homo sapiens P14598
Fluorescence Spectr
15657040
Intra NCF4 Q15080 NCF2 Homo sapiens P19878
X-Ray Diffraction
12887891
Intra NCF4 Q15080 NCF2 Homo sapiens P19878
Y2H
11483497
Intra NCF4 Q15080 NCF2 Homo sapiens P19878
Anti Bait CoIP
16297854
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, 3

CGD3

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Iii

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 3

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

Cgd, Autosomal Recessive Cytochrome B-Positive, Type Iii

Granulomatous Disease, Chronic, Due To Ncf4 Deficiency

Chronic Granulomatous Disease 3, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 3

Autosomal Recessive Cytochrome B-Positive Cgd Type Iii

Cdg3

Chronic Granulomatous Disease Due To Ncf4 Deficiency

Cgd Autosomal Recessive Cytochrome B-Positive Type Iii

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii

Granulomatous Disease Chronic Due To Ncf4 Deficiency

Granulomatous Disease, Chronic, Autosomal Recessive Cytochrome B-Positive, Type 3

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

Corneal Dystrophy, Avellino Type

Avellino Corneal Dystrophy

CDA

Combined Granular-Lattice Corneal Dystrophy

Cgd2

Granular Corneal Dystrophy Type 2

Acd

Granular Corneal Dystrophy 2

Corneal Dystrophy Avellino Type

Granular Corneal Dystrophy Type Ii

Granular Corneal Dystrophy, Type Ii

Combined Granular-Lattice Corneal Dystrophies

Granular And Lattice Corneal Dystrophies

Granular-Lattice Corneal Dystrophy

Gcd2

Gcdii

Granular-Lattice Corneal Dystrophy

Granular Corneal Dystrophy

Granular Dystrophy Corneal

Corneal Dystrophies, Hereditary

Hereditary Corneal Dystrophy

Corneal Dystrophy Nos

Familial Hereditary Corneal Degeneration

Hereditary Corneal Opacity

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

Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung

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

Lung Abscess

Apical Lung Abscess

Abscess Of Lung

Abscess Of Lung Nos

Pulmonary Abscess

Multiple Abscess Of Lung

Epithelial-Stromal Tgfbi Dystrophy
Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome

Fipa

Gastrointestinal Defects And Immunodeficiency Syndrome

Multiple Gastrointestinal Atresias

Familial Isolated Pituitary Adenoma

Intestinal Atresia, Multiple

Multiple Intestinal Atresia

GIDID1

Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Minat

Gidid

Meddra:10028210

Familial Isolated Pituitary Adenoma Syndrome

Intestinal Atresia Multiple

Combined Immunodeficiency-Enteropathy Spectrum

Cid-Mia/Early-Onset Ibd

Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Mia

Gastrointestinal Defect And Immunodeficiency Syndrome

Pituitary Adenoma Predisposition

Pituitary Adenoma, Familial Isolated

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

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
Rattus norvegicus NCF4 RGD RGD:1593157
Bos taurus NCF4 VGNC VGNC:31913
Mus musculus NCF4 MGD MGI:109186
Macaca mulatta NCF4 VGNC VGNC:75141
Felis catus NCF4 VGNC VGNC:68426
Canis familiaris NCF4 VGNC VGNC:43651