DEFA1 - defensin alpha 1 Gene

中文名称：防御素α1

种属: Homo sapiens

同用名: HP1; MRS; DEF1; HP-1; DEFA2; HNP-1

基因 ID: 1667 | 基因类型: protein coding

关于 DEFA1

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:6,977,649-6,980,092 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 175 orthologues and 5 paralogues. Restricted expression toward bone marrow (RPKM 27404.8).

功能概要

防御素是一类被认为参与宿主防御的抗菌和细胞毒性肽。它们大量存在于中性粒细胞颗粒中，也存在于粘膜表面的上皮细胞中，例如肠道、呼吸道、泌尿道和阴道。防御素家族的成员在蛋白质序列上高度相似，并以保守的半胱氨酸基序为特征。由该基因编码的蛋白质防御素 alpha 1 存在于嗜中性粒细胞的杀微生物颗粒中，可能在吞噬细胞介导的宿主防御中发挥作用。几个 alpha 防御素基因聚集在 8 号染色体上。该基因与防御素 alpha 3 仅一个氨基酸不同。该基因和编码防御素的基因 alpha 3 都存在拷贝数变异。[RefSeq 提供，2014 年 10 月]

Defensins are a family of antimicrobial and cytotoxic Peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, Oct 2014]

DEFA1 基因产物(1)

mRNA	Protein	Name
NM_004084.4	NP_004075.1	neutrophil defensin 1 preproprotein

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 pore-forming activity	IDA IDA: 通过直接分析推断	17635867	GOA
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 T cell chemotaxis	IDA IDA: 通过直接分析推断	17088326	GOA
involved in antibacterial humoral response	IDA IDA: 通过直接分析推断	12860195	GOA
involved in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA IDA: 通过直接分析推断	12860195	GOA
involved in antimicrobial humoral immune response mediated by antimicrobial peptide	IMP IMP: 通过突变表型推断	17635867	GOA
involved in defense response to Gram-positive bacterium	IDA IDA: 通过直接分析推断	12860195	GOA
involved in defense response to protozoan	IMP IMP: 通过突变表型推断	17635867	GOA
involved in estrogen receptor signaling pathway	IDA IDA: 通过直接分析推断	21861873	GOA
involved in innate immune response in mucosa	IDA IDA: 通过直接分析推断	12860195	GOA
involved in killing by host of symbiont cells	IDA IDA: 通过直接分析推断	17635867	GOA
involved in killing of cells of another organism	IDA IDA: 通过直接分析推断	15616305	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in extracellular space	IDA IDA: 通过直接分析推断	12860195	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

DEFA1 蛋白结构

Defensin_propep

Defensin_1

0
94 a.a.

蛋白主名

其他名称

neutrophil defensin 1

defensin, alpha 1, myeloid-related sequence

DEFA1 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	DEFA1	P59665	UBQLN2	Homo sapiens	Q9UHD9	Y2H Prey Pooling	32296183
种属内	DEFA1	P59665	UBQLN2	Homo sapiens	Q9UHD9	Y2H Array	32296183
种属内	DEFA1	P59665	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 DEFA1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P72171	DEFA1 Protein, Human (GST)	P59665 (M1-C94)	≥95%

关联疾病

疾病名称

别名

Microsporidiosis

Infection By Microspora	Microsporidiasis
Infection By Microsporea	Infection By Microsporida
Intestinal Microsporidiosis	Microsporidia Infection
Infection By Microsporidia

Oral Candidiasis

Thrush	Candidiasis Of Mouth
Oral Moniliasis	Thrush, Oral
Candidiasis, Oral	Oral Thrush
Candidiasis	Equine Thrush

Retinitis Pigmentosa 13

RP13	Retinitis Pigmentosa-13
Retinitis Pigmentosa, Type 13

Preterm Premature Rupture Of The Membranes

Preterm Premature Rupture Of Membranes	PPROM
Preterm Premature Rupture Of The Membranes, Susceptibility To	Pprom - [Preterm Premature Rupture Of Membranes]
Preterm Rupture Of Membranes

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis	Ipf
Fibrocystic Pulmonary Dysplasia	Pulmonary Fibrosis, Idiopathic
Pulmonary Fibrosis, Idiopathic, Susceptibility To	Cryptogenic Fibrosing Alveolitis
ILD2	Idiopathic Pulmonary Fibrosis, Familial
Fibrosing Alveolitis, Cryptogenic	Uip
Fibrosing Alveolitis	Interstitial Pneumonitis, Usual
Familial Idiopathic Pulmonary Fibrosis	Idiopathic Fibrosing Alveolitis, Chronic Form
Usual Interstitial Pneumonia	Fibrosing Alveolitis Cryptogenic
Hamman-Rich Disease	Idiopathic Pulmonary Fibrosis Familial
Interstitial Pneumonitis Usual	Fibrosis Idiopathic Pulmonary
Fibrosis, Pulmonary, Idiopathic	Hamman-Rich Syndrome
Chronic Idiopathic Pulmonary Fibrosis	Acute Interstitial Pneumonia
Interstitial Pulmonary Fibrosis	Ipf - [Idiopathic Pulmonary Fibrosis]
Idiopathic Lung Fibrosis	Fibrosing Lung Disease
Pulmonary Fibrosis Nos	Fibrosing Pneumonitis

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DEFA1 - defensin alpha 1 Gene

关于 DEFA1

功能概要

DEFA1 基因产物(1)

DEFA1 蛋白结构

DEFA1 蛋白互作信息

重组 DEFA1 蛋白

关联疾病

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DEFA1 - defensin alpha 1 Gene

关于 DEFA1

功能概要

DEFA1 基因产物(1)

DEFA1 蛋白结构

DEFA1 蛋白互作信息

重组 DEFA1 蛋白

关联疾病

相关产品

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z