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AZIN1 antizyme inhibitor 1 [ Homo sapiens (human) ]

Gene ID: 51582, updated on 13-Mar-2020

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
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

Genomic context

See AZIN1 in Genome Data Viewer
Location:
8q22.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (102826302..102864200, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (103838536..103876905, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene acireductone dioxygenase 1 pseudogene 2 Neighboring gene growth arrest associated lncRNA 1 Neighboring gene AZIN1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 791 Neighboring gene ribosomal protein L5 pseudogene 24

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC691, MGC3832

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ornithine decarboxylase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ornithine decarboxylase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
ornithine decarboxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
antizyme inhibitor 1
Names
ornithine decarboxylase antizyme inhibitor

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001301668.2NP_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
    B3KTF6
    Conserved Domains (1) summary
    cl00261
    Location:26361
    PLPDE_III; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzymes
  2. NM_001363010.1NP_001349939.1  antizyme inhibitor 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AI671875, BC013420, BC042404, BM716557, CV569168, DB092816
    Conserved Domains (1) summary
    cd06831
    Location:26418
    PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor
  3. NM_001363011.1NP_001349940.1  antizyme inhibitor 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AI671875, BC013420, BC042404, BM716557, CN392320, CV569168, DA333832, DB092816
    Conserved Domains (1) summary
    cd06831
    Location:26418
    PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor
  4. NM_001363012.1NP_001349941.1  antizyme inhibitor 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AI671875, AP003696, BC013420, BC042404, BM716557, BX956991, CN392292, CV569168, DB092816
    Conserved Domains (1) summary
    cd06831
    Location:26418
    PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor
  5. NM_001363013.1NP_001349942.1  antizyme inhibitor 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AI671875, BC013420, BC042404, BM716557, BU507334, DB092816
    Conserved Domains (1) summary
    cl00261
    Location:1252
    PLPDE_III; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzymes
  6. NM_001363014.1NP_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:1252
    PLPDE_III; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzymes
  7. NM_001363024.1NP_001349953.1  antizyme inhibitor 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AI671875, BC013420, BC042404, BM716557, DA830883, DB092816
    Consensus CDS
    CCDS6295.1
    Conserved Domains (1) summary
    cd06831
    Location:26419
    PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor
  8. NM_001363083.1NP_001350012.1  antizyme inhibitor 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AI671875, BC013420, BC042404, BM716557, DA414234, DB092816, DB139218, DB236925
    Consensus CDS
    CCDS6295.1
    Conserved Domains (1) summary
    cd06831
    Location:26419
    PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor
  9. NM_015878.5NP_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
    O14977
    UniProtKB/TrEMBL
    A0A024R9C7
    Related
    ENSP00000321507.4, ENST00000347770.8
    Conserved Domains (1) summary
    cd06831
    Location:26419
    PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor
  10. NM_148174.4NP_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
    O14977
    UniProtKB/TrEMBL
    A0A024R9C7
    Related
    ENSP00000337180.5, ENST00000337198.10
    Conserved Domains (1) summary
    cd06831
    Location:26419
    PLPDE_III_ODC_like_AZI; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzyme Ornithine Decarboxylase-like Antizyme Inhibitor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    102826302..102864200 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013566.2XP_016869055.1  antizyme inhibitor 1 isoform X4

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