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    AZIN1 antizyme inhibitor 1 [ Homo sapiens (human) ]

    Gene ID: 51582, updated on 10-Dec-2024

    Summary

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    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

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    See AZIN1 in Genome Data Viewer
    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_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:103789111-103789615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:103793799-103794298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:103794977-103795477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27773 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:103801212-103802107 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:103804910-103805114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:103807313-103807823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:103820470-103821096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27779 Neighboring gene Sharpr-MPRA regulatory region 950 Neighboring gene growth arrest associated lncRNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:103874535-103875268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19447 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:103876737-103877469 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:103884433-103884932 Neighboring gene uncharacterized LOC124902000 Neighboring gene macrophage interferon regulatory lncRNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19449 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:103907133-103907680 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:103908196-103908325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27782 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:103917298-103917873 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:103918088-103919287 Neighboring gene Sharpr-MPRA regulatory region 791 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19450 Neighboring gene ribosomal protein L5 pseudogene 24

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A polymorphism that delays fibrosis in hepatitis C promotes alternative splicing of AZIN1, reducing fibrogenesis. Paris AJ, et al. Hepatology, 2011 Dec. PMID 21837750, Free PMC Article
    2. A novel mechanism for A-to-I RNA-edited AZIN1 in promoting tumor angiogenesis in colorectal cancer. Wei Y, et al. Cell Death Dis, 2022 Apr 2. PMID 35365616, Free PMC Article
    3. Cloning and sequencing of a human cDNA encoding ornithine decarboxylase antizyme inhibitor. Koguchi K, et al. Biochim Biophys Acta, 1997 Sep 12. PMID 9349715
    4. A role for antizyme inhibitor in cell proliferation. Silva TM, et al. Amino Acids, 2015 Jul. PMID 25813938, Free PMC Article
    5. Control of the polyamine biosynthesis pathway by G(2)-quadruplexes. Lightfoot HL, et al. Elife, 2018 Jul 31. PMID 30063205, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. AzI1 fulfils an essential regulatory function in polyamine homeostasis and cell proliferation.
      Title: A role for antizyme inhibitor in cell proliferation.
    9. 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.
    10. 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC691, MGC3832

    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)

    1. 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

    2. 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

    3. 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

    4. 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

    5. 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

    6. 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

    7. 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

    8. 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

    9. 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

    10. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047421861.1 → XP_047277817.1  antizyme inhibitor 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HLH4, A8K3A1

    2. XM_047421862.1 → XP_047277818.1  antizyme inhibitor 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HLH4, A8K3A1

    3. XM_047421860.1 → XP_047277816.1  antizyme inhibitor 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NCD5, O14977, Q6IBQ7, Q96D20
      UniProtKB/TrEMBL
      A8K3A1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      103954549..103992441 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360642.1 → XP_054216617.1  antizyme inhibitor 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HLH4, A8K3A1

    2. XM_054360643.1 → XP_054216618.1  antizyme inhibitor 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HLH4, A8K3A1

    3. XM_054360641.1 → XP_054216616.1  antizyme inhibitor 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NCD5, O14977, Q6IBQ7, Q96D20
      UniProtKB/TrEMBL
      A8K3A1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14977.2 GenPept UniProtKB/Swiss-Prot:O14977

    Gene LinkOut

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