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_DAP_Arg_deC

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	Y2H Array	31515488
种属内	AZIN1	O14977	OAZ3	Homo sapiens	Q9UMX2	Y2H Prey Pooling	25416956
种属内	AZIN1	O14977	OAZ3	Homo sapiens	Q9UMX2	Validated Y2H	25416956
种属内	AZIN1	O14977	OAZ3	Homo sapiens	Q9UMX2	Y2H Array	25416956
种属内	AZIN1	O14977	OAZ3	Homo sapiens	Q9UMX2-2	Validated Y2H	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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01296	AZIN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

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

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