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

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

重组 DEFA1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P72171	DEFA1 Protein, Human (GST)	P59665 (D1-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

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。沪(浦)应急管危经许[2021]201709(QFYS)	站点地图隐私声明
Copyright © 2013-2024 MedChemExpress. All Rights Reserved.	沪ICP备15051369号-4

DEFA1 - defensin alpha 1 Gene

关于 DEFA1

功能概要

DEFA1 基因产物(1)

DEFA1 蛋白结构

重组 DEFA1 蛋白

关联疾病

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

DEFA1 - defensin alpha 1 Gene

关于 DEFA1

功能概要

DEFA1 基因产物(1)

DEFA1 蛋白结构

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