1. Gene
  2. AZIN1 - antizyme inhibitor 1 Gene

AZIN1 - antizyme inhibitor 1 Gene

中文名称:抗酶抑制因子 1

种属: Homo sapiens

同用名: AZI; AZI1; OAZI; AZIA1; OAZIN; ODC1L

基因 ID: 51582 | 基因类型: protein coding

关于 AZIN1

Cytogenetic location: 8q22.3 Genomic coordinates (GRCh38): 8:102,826,302-102,864,200 (from NCBI)

This gene has 17 transcripts (splice variants), 293 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 50.0), bone marrow (RPKM 45.4) and 25 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 1,它是该基因家族中普遍表达的第一个成员,位于细胞核和细胞质中。抗酶抑制剂 1 基因的过度表达与增殖、细胞转化和肿瘤发生的增加有关。基因敲除研究表明,缺乏功能性抗酶抑制剂 1 基因的纯合子突变小鼠在出生时死亡,肝脏形态异常。该基因的 RNA 编辑 (主要在肝组织中) 与肝细胞癌的进展有关。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 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]

AZIN1 基因产物(10)

mRNA Protein Name
NM_001301668.3 NP_001288597.1 antizyme inhibitor 1 isoform 2
NM_001363010.1 NP_001349939.1 antizyme inhibitor 1 isoform 3
NM_001363011.1 NP_001349940.1 antizyme inhibitor 1 isoform 3
NM_001363012.1 NP_001349941.1 antizyme inhibitor 1 isoform 3
NM_001363013.1 NP_001349942.1 antizyme inhibitor 1 isoform 4
NM_001363014.1 NP_001349943.1 antizyme inhibitor 1 isoform 4
NM_001363024.1 NP_001349953.1 antizyme inhibitor 1 isoform 1
NM_001363083.1 NP_001350012.1 antizyme inhibitor 1 isoform 1
NM_015878.5 NP_056962.2 antizyme inhibitor 1 isoform 1
NM_148174.4 NP_680479.1 antizyme inhibitor 1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of polyamine transmembrane transport IDA
IDA: 通过直接分析推断
18508777 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

AZIN1 蛋白结构

Orn_Arg_deC_N

Orn_Arg_deC_N: Pyridoxal-dependent decarboxylase, pyridoxal binding domain (45 - 278)

Orn_DAP_Arg_deC

Orn_DAP_Arg_deC: Pyridoxal-dependent decarboxylase, C-terminal sheet domain (282 - 405)

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

antizyme inhibitor 1

ornithine decarboxylase antizyme inhibitor

AZIN1 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
AZIN1 O14977 OAZ3 Homo sapiens Q9UMX2 31515488
种属内
AZIN1 O14977 OAZ3 Homo sapiens Q9UMX2 25416956
种属内
AZIN1 O14977 OAZ3 Homo sapiens Q9UMX2 25416956
种属内
AZIN1 O14977 OAZ3 Homo sapiens Q9UMX2 25416956
种属内
AZIN1 O14977 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
Dyschromatosis Symmetrica Hereditaria

Dyschromatosis Symmetrica Hereditaria 1

Reticulate Acropigmentation Of Dohi

DSH

Dsh1

Symmetric Dyschromatosis Of The Extremities

Rad

Familial Reticulate Acropigmentation Of Dohi

Acropigmentation Of Dohi

Symmetrical Dyschromatosis Of Extremities

Corpus Luteum Cyst

Cystic Corpus Luteum

Luteal Cystic Ovary Disease

Lutein Cyst

Granulosa Lutein Cyst

Childhood Astrocytic Tumor

Juvenile Astrocytoma

Pediatric Astrocytoma

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome

Cree Encephalitis

Aicardi-Goutières Syndrome

Encephalopathy With Basal Ganglia Calcification

Ags

Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 1

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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 AZIN1 RGD RGD:61934
Felis catus AZIN1 VGNC VGNC:60052
Bos taurus AZIN1 VGNC VGNC:26369
Mus musculus AZIN1 MGD MGI:1859169
Canis familiaris AZIN1 VGNC VGNC:38329
Macaca mulatta AZIN1 VGNC VGNC:70080