AZIN1 antizyme inhibitor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AZIN1provided by HGNC
Official Full Name: antizyme inhibitor 1provided by HGNC
Primary source: HGNC:HGNC:16432
See related: Ensembl:ENSG00000155096 MIM:607909; AllianceGenome:HGNC:16432
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AZI; AZI1; OAZI; AZIA1; OAZIN; ODC1L
Summary: 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]
Expression: Ubiquitous expression in brain (RPKM 50.0), bone marrow (RPKM 45.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (102826302..102864200, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (103954549..103992441, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (103838530..103876428, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNA editing of AZIN1 coding sites is catalyzed by ADAR1 p150 after splicing.
Title: RNA editing of AZIN1 coding sites is catalyzed by ADAR1 p150 after splicing.
ADAR1 and AZIN1 RNA editing function as an oncogene and contributes to immortalization in endometrial cancer.
Title: ADAR1 and AZIN1 RNA editing function as an oncogene and contributes to immortalization in endometrial cancer.
A novel mechanism for A-to-I RNA-edited AZIN1 in promoting tumor angiogenesis in colorectal cancer.
Title: A novel mechanism for A-to-I RNA-edited AZIN1 in promoting tumor angiogenesis in colorectal cancer.
Activation of AZIN1 RNA editing is associated with invasive potential of cancer-associated fibroblasts in colorectal cancer.
Title: Activation of AZIN1 RNA editing is a novel mechanism that promotes invasive potential of cancer-associated fibroblasts in colorectal cancer.
AZIN1 RNA editing levels and ADAR1 expression were significantly elevated in gastric cancer tissues compared with matched normal mucosa.
Title: Enhanced AZIN1 RNA editing and overexpression of its regulatory enzyme ADAR1 are important prognostic biomarkers in gastric cancer.
Using high-resolution (1)H-NMR spectroscopy, we demonstrated that a long-looped quadruplex in the AZIN1 mRNA co-exists in salt-dependent equilibria with a hairpin structure.
Title: Control of the polyamine biosynthesis pathway by G(2)-quadruplexes.
e in vivo experiment confirmed that this RNA editing confers higher capacity of tumor migration as well. In conclusion, antizyme inhibitor 1 RNA editing and its involvement in tumorigenesis of non-small-cell lung cancer pave a new way for potential clinical management of non-small-cell lung cancer.
Title: RNA editing of AZIN1 induces the malignant progression of non-small-cell lung cancers.
AzI1 fulfils an essential regulatory function in polyamine homeostasis and cell proliferation.
Title: A role for antizyme inhibitor in cell proliferation.
Data show the the interplay between the enzyme ornithine decarboxylase (ODC) and two regulatory proteins: antizyme (Az) and inhibitor (AzIN).
Title: Structural basis of antizyme-mediated regulation of polyamine homeostasis.
This study also suggests that highly expressed AZI may be partly responsible for increased ODC activity and cellular transformation.
Title: Stable siRNA-mediated silencing of antizyme inhibitor: regulation of ornithine decarboxylase activity.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HSC12A042 (e-PCR)
- UniSTS:2312

WI-9274 (e-PCR)
- UniSTS:44565

WIAF-1666 (e-PCR)
- UniSTS:61725

WI-19200 (e-PCR)
- UniSTS:16928

G19701 (e-PCR)
- UniSTS:54919

A001V45 (e-PCR)
- UniSTS:54920

RH18526 (e-PCR)
- UniSTS:10707

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ornithine decarboxylase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables ornithine decarboxylase activator activity	IDA Inferred from Direct Assay more info
enables ornithine decarboxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein catabolic process	IDA Inferred from Direct Assay more info
involved_in positive regulation of polyamine transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of polyamine transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in putrescine biosynthetic process from ornithine	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: antizyme inhibitor 1

Names: ornithine decarboxylase antizyme inhibitor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001301668.3 → NP_001288597.1 antizyme inhibitor 1 isoform 2

See identical proteins and their annotated locations for NP_001288597.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as AZIN1 SV2) is alternatively spliced in the 3' coding region, which causes a frame-shift, compared to variant 1. The resulting isoform (2) is shorter with a distinct C-terminus compared to isoform 1. This isoform is thought to play a role in reducing fibrogenicity of hepatic stellate cells via a polyamine-independent pathway (PMID:21837750).

Source sequence(s)

AI671875, AK095493, BC042404, BM716557

UniProtKB/TrEMBL

A0A804HKE3, B3KTF6

Related

ENSP00000507850.1, ENST00000682969.1

Conserved Domains (1) summary

cl00261
Location:26 → 361

PLPDE_III; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzymes
NM_001363010.1 → NP_001349939.1 antizyme inhibitor 1 isoform 3

Status: REVIEWED

Source sequence(s)

AI671875, BC013420, BC042404, BM716557, CV569168, DB092816

Consensus CDS

CCDS94325.1

UniProtKB/TrEMBL

A0A804HLH4, A8K3A1

Related

ENSP00000507940.1, ENST00000682014.1

Conserved Domains (1) summary

cd06831
Location:26 → 418

PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor
NM_001363011.1 → NP_001349940.1 antizyme inhibitor 1 isoform 3

Status: REVIEWED

Source sequence(s)

AI671875, BC013420, BC042404, BM716557, CN392320, CV569168, DA333832, DB092816

Consensus CDS

CCDS94325.1

UniProtKB/TrEMBL

A0A804HLH4, A8K3A1

Conserved Domains (1) summary

cd06831
Location:26 → 418

PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor
NM_001363012.1 → NP_001349941.1 antizyme inhibitor 1 isoform 3

Status: REVIEWED

Source sequence(s)

AI671875, AP003696, BC013420, BC042404, BM716557, BX956991, CN392292, CV569168, DB092816

Consensus CDS

CCDS94325.1

UniProtKB/TrEMBL

A0A804HLH4, A8K3A1

Related

ENSP00000508352.1, ENST00000683787.1

Conserved Domains (1) summary

cd06831
Location:26 → 418

PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor
NM_001363013.1 → NP_001349942.1 antizyme inhibitor 1 isoform 4

Status: REVIEWED

Source sequence(s)

AI671875, BC013420, BC042404, BM716557, BU507334, DB092816

Conserved Domains (1) summary

cl00261
Location:1 → 252

PLPDE_III; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzymes
NM_001363014.1 → NP_001349943.1 antizyme inhibitor 1 isoform 4

Status: REVIEWED

Source sequence(s)

AI671875, BC013420, BC042404, BM716557, BU507334, CX781377, DB092816

Conserved Domains (1) summary

cl00261
Location:1 → 252

PLPDE_III; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzymes
NM_001363024.1 → NP_001349953.1 antizyme inhibitor 1 isoform 1

Status: REVIEWED

Source sequence(s)

AI671875, BC013420, BC042404, BM716557, DA830883, DB092816

Consensus CDS

CCDS6295.1

UniProtKB/Swiss-Prot

A6NCD5, O14977, Q6IBQ7, Q96D20

UniProtKB/TrEMBL

A8K3A1

Related

ENSP00000506895.1, ENST00000684566.1

Conserved Domains (1) summary

cd06831
Location:26 → 419

PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor
NM_001363083.1 → NP_001350012.1 antizyme inhibitor 1 isoform 1

Status: REVIEWED

Source sequence(s)

AI671875, BC013420, BC042404, BM716557, DA414234, DB092816, DB139218, DB236925

Consensus CDS

CCDS6295.1

UniProtKB/Swiss-Prot

A6NCD5, O14977, Q6IBQ7, Q96D20

UniProtKB/TrEMBL

A8K3A1

Conserved Domains (1) summary

cd06831
Location:26 → 419

PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor
NM_015878.5 → NP_056962.2 antizyme inhibitor 1 isoform 1

See identical proteins and their annotated locations for NP_056962.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.

Source sequence(s)

AI671875, BC013420, BC042404, BM716557, DB092816

Consensus CDS

CCDS6295.1

UniProtKB/Swiss-Prot

A6NCD5, O14977, Q6IBQ7, Q96D20

UniProtKB/TrEMBL

A8K3A1

Related

ENSP00000321507.4, ENST00000347770.8

Conserved Domains (1) summary

cd06831
Location:26 → 419

PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor
NM_148174.4 → NP_680479.1 antizyme inhibitor 1 isoform 1

See identical proteins and their annotated locations for NP_680479.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal 5' non-coding exon, thus has a shorter 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AI671875, BC013420, BC042404, BM716557

Consensus CDS

CCDS6295.1

UniProtKB/Swiss-Prot

A6NCD5, O14977, Q6IBQ7, Q96D20

UniProtKB/TrEMBL

A8K3A1

Related

ENSP00000337180.5, ENST00000337198.10

Conserved Domains (1) summary

cd06831
Location:26 → 419

PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor