1. Gene
  2. AZIN2 - antizyme inhibitor 2 Gene

AZIN2 - antizyme inhibitor 2 Gene

中文名称:抗酶抑制因子 2

种属: Homo sapiens

同用名: ADC; AZI2; ODCp; AZIB1; ODC-p; ODC1L

基因 ID: 113451 | 基因类型: protein coding

关于 AZIN2

Cytogenetic location: 1p35.1 Genomic coordinates (GRCh38): 1:33,081,153-33,166,795 (from NCBI)

This gene has 21 transcripts (splice variants), 134 orthologues and 2 paralogues. Broad expression in testis (RPKM 8.2), brain (RPKM 4.1) and 15 other tissues.

功能概要

该基因编码的蛋白质属于抗酶抑制剂家族,通过维持细胞内的多胺稳态在细胞生长和增殖中发挥作用。抗酶抑制剂是鸟氨酸脱羧酶 (ODC,多胺生物合成中的关键酶) 的同系物,已失去鸟氨酸脱羧酶的能力;但是,保留与抗酶结合的能力。抗酶通过与 ODC 结合并靶向其降解以及通过抑制多胺摄取来负向调节细胞内多胺水平。抗酶抑制剂通过隔离抗酶并中和它们的作用而作为多胺水平的正调节剂发挥作用。该基因编码抗酶抑制剂 2,是该基因家族的第二个成员。与抗酶抑制剂 1 一样,抗酶抑制剂 2 与所有 3 种抗酶相互作用并刺激 ODC 活性和多胺摄取。然而,与普遍表达并定位于细胞核和细胞质中的抗酶抑制剂 1 不同,抗酶抑制剂 2 主要表达于脑和睾丸,并定位于内质网-高尔基体中间室。最近的研究表明,抗酶抑制剂 2 也在卵巢、肾上腺和胰腺的特定细胞类型以及肥大细胞中表达。该基因的确切功能尚不清楚,但现有数据表明其在细胞生长、精子发生、水泡运输和分泌中的作用。在阿尔茨海默病患者的大脑中也观察到了抗酶抑制剂 2 的积累。文献和数据库中对该基因的命名存在混淆,源于早期的一份报告,即人类 cDNA 克隆 (与 ODCp/AZIN2 相同) 具有精氨酸脱羧酶 (ADC) 活性 (PMID:14738999) 。随后对人类和小鼠的研究表明,抗酶抑制剂 2 缺乏精氨酸脱羧酶活性 (PMID:19956990) 。已经描述了该基因的可变剪接转录物变体。[RefSeq 提供,2014 年 9 月]

The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key Enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. Accumulation of antizyme inhibitor 2 has also been observed in brains of patients with Alzheimer's disease. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]

AZIN2 基因产物(18)

mRNA Protein Name
NM_001293562.2 NP_001280491.1 antizyme inhibitor 2 isoform 1
NM_001301823.2 NP_001288752.1 antizyme inhibitor 2 isoform 2
NM_001301824.2 NP_001288753.1 antizyme inhibitor 2 isoform 2
NM_001301825.1 NP_001288754.1 antizyme inhibitor 2 isoform 3
NM_001301826.1 NP_001288755.1 antizyme inhibitor 2 isoform 4
NM_001350398.2 NP_001337327.1 antizyme inhibitor 2 isoform 2
NM_001350399.2 NP_001337328.1 antizyme inhibitor 2 isoform 2
NM_001350400.2 NP_001337329.1 antizyme inhibitor 2 isoform 2
NM_001350401.2 NP_001337330.1 antizyme inhibitor 2 isoform 2
NM_001350402.1 NP_001337331.1 antizyme inhibitor 2 isoform 5
NM_001376722.1 NP_001363651.1 antizyme inhibitor 2 isoform 1
NM_001376724.1 NP_001363653.1 antizyme inhibitor 2 isoform 1
NM_001376725.1 NP_001363654.1 antizyme inhibitor 2 isoform 2
NM_001376727.1 NP_001363656.1 antizyme inhibitor 2 isoform 2
NM_001376729.1 NP_001363658.1 antizyme inhibitor 2 isoform 2
NM_001376730.1 NP_001363659.1 antizyme inhibitor 2 isoform 6
NM_001376732.1 NP_001363661.1 antizyme inhibitor 2 isoform 5
NM_052998.4 NP_443724.1 antizyme inhibitor 2 isoform 1
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 ornithine decarboxylase activator activity IDA
IDA: 通过直接分析推断
17900240 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17900240 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of protein catabolic process IDA
IDA: 通过直接分析推断
17900240 GOA
involved in trans-Golgi network membrane organization IMP
IMP: 通过突变表型推断
20188728 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axon IDA
IDA: 通过直接分析推断
19832840 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
19832840 GOA
located in dendrite IDA
IDA: 通过直接分析推断
19832840 GOA
located in granular vesicle IDA
IDA: 通过直接分析推断
19718454 GOA
located in nucleus IDA
IDA: 通过直接分析推断
19718454 GOA
located in perikaryon IDA
IDA: 通过直接分析推断
19832840 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
20188728 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
20188728 GOA
located in transport vesicle IMP
IMP: 通过突变表型推断
20188728 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

AZIN2 蛋白结构

Orn_Arg_deC_N

Orn_Arg_deC_N: Pyridoxal-dependent decarboxylase, pyridoxal binding domain (47 - 282)

Orn_DAP_Arg_deC

Orn_DAP_Arg_deC: Pyridoxal-dependent decarboxylase, C-terminal sheet domain (292 - 406)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 460 a.a.
蛋白主名 其他名称

antizyme inhibitor 2

ODC antizyme inhibitor-2

AZIN2 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
AZIN2 Q96A70 OAZ3 Homo sapiens Q9UMX2 25416956
种属内
AZIN2 Q96A70 OAZ3 Homo sapiens Q9UMX2 25416956
种属内
AZIN2 Q96A70 OAZ3 Homo sapiens Q9UMX2-2 32296183
种属内
AZIN2 Q96A70 OAZ3 Homo sapiens Q9UMX2-2 32296183
种属内
AZIN2 Q96A70 OAZ3 Homo sapiens Q9UMX2-2 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
Uterine Corpus Sarcoma

Sarcoma Of Corpus Uteri

Sarcoma Of Uterus

Sarcoma Of The Corpus Uteri

Uterine Sarcoma

Sarcoma, Nos Of Uterus

Corpus Luteum Cyst

Cystic Corpus Luteum

Luteal Cystic Ovary Disease

Lutein Cyst

Granulosa Lutein Cyst

Orbit Lymphoma

Orbital Lymphoma

Lymphoma Of The Orbit

Secondary Progressive Multiple Sclerosis

Secondary-Progressive Ms

Spms

Multiple Sclerosis, Chronic Progressive

Chronic Progressive Multiple Sclerosis

Multiple Sclerosis, Secondary Progressive

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 AZIN2 RGD RGD:1564776
Felis catus AZIN2 VGNC VGNC:60053
Bos taurus AZIN2 VGNC VGNC:55327
Canis familiaris AZIN2 VGNC VGNC:38330
Mus musculus AZIN2 MGD MGI:2442093
Macaca mulatta AZIN2 VGNC VGNC:70153