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  2. DEFA5 - defensin alpha 5 Gene

DEFA5 - defensin alpha 5 Gene

中文名称:防御素α5

种属: Homo sapiens

同用名: DEF5; HD-5

基因 ID: 1670 | 基因类型: protein coding

关于 DEFA5

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:7,055,304-7,056,739 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 200 orthologues and 5 paralogues. Restricted expression toward small intestine (RPKM 5886.0).

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。几个 alpha 防御素基因似乎聚集在 8 号染色体上。由该基因编码的蛋白质防御素 alpha 5 在回肠潘氏细胞的分泌颗粒中高度表达。[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. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]

DEFA5 基因产物(1)

mRNA Protein Name
NM_021010.3 NP_066290.1 defensin alpha 5 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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
17088326 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
9588893 GOA
located in secretory granule IDA
IDA: 通过直接分析推断
9588893 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

DEFA5 蛋白结构

Defensin_propep

Defensin_propep: Defensin propeptide (1 - 50)

Defensin_1

Defensin_1: Mammalian defensin (65 - 93)

  • 0
  • 94 a.a.
蛋白主名 其他名称

defensin alpha 5

HD5(20-94)

DEFA5 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
DEFA5 Q01523 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
DEFA5 Q01523 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
DEFA5 Q01523 MEOX2 Homo sapiens Q6FHY5 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
Urethritis

Nonspecific Urethritis

Non-Gonococcal Urethritis

Nongonococcal Urethritis

Microsporidiosis

Infection By Microspora

Microsporidiasis

Infection By Microsporea

Infection By Microsporida

Intestinal Microsporidiosis

Microsporidia Infection

Infection By Microsporidia

Gastritis

Acute Gastric Mucosal Erosion

Erosive Gastritis

Erosive Gastropathy

Gastritis Erosive

Idiopathic Erosive/Hemorrhagic Gastritis

Inflammation Of Gastric Mucosa

Gastroduodenitis

Gastritis Nos

Noninfectious Gastroenteritis

Nonbacterial Gastroenteritis Of Infant

Acute Gastric Infection

Acute Simple Gastritis

Chronic Antral Gastritis

Chronic Fundal Gastritis

Chronic Simple Gastritis

Acute Gastroduodenitis

Acute Antral Gastritis

Acute Erosive Gastritis

Bile Reflux Gastritis

Gastritis Due To Biliary Reflux

Inflammatory Bowel Disease 2

IBD2

Crohn'S Colitis

Crohn Disease

Pyelonephritis
Colitis
Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Febrile Seizures, Familial, 6

FEB6

Familial Febrile Seizures 6

Convulsions, Familial Febrile, 6

Familial Febrile Convulsions 6

Febrile Convulsions, Familial, 6

Chronic Pyelonephritis
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 DEFA5 RGD RGD:727951