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    AZIN1 antizyme inhibitor 1 [ Homo sapiens (human) ]

    Gene ID: 51582, updated on 3-Apr-2024

    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
    NEW
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    Genomic context

    See AZIN1 in Genome Data Viewer
    Location:
    8q22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (102826302..102864200, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (103954549..103992441, complement)
    105.20220307 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

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    Preferred Names
    antizyme inhibitor 1
    Names
    ornithine decarboxylase antizyme inhibitor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001301668.3NP_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: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
      Consensus CDS
      CCDS94325.1
      UniProtKB/TrEMBL
      A0A804HLH4, A8K3A1
      Related
      ENSP00000507940.1, ENST00000682014.1
      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
      Consensus CDS
      CCDS94325.1
      UniProtKB/TrEMBL
      A0A804HLH4, A8K3A1
      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
      Consensus CDS
      CCDS94325.1
      UniProtKB/TrEMBL
      A0A804HLH4, A8K3A1
      Related
      ENSP00000508352.1, ENST00000683787.1
      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
      UniProtKB/Swiss-Prot
      A6NCD5, O14977, Q6IBQ7, Q96D20
      UniProtKB/TrEMBL
      A8K3A1
      Related
      ENSP00000506895.1, ENST00000684566.1
      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
      UniProtKB/Swiss-Prot
      A6NCD5, O14977, Q6IBQ7, Q96D20
      UniProtKB/TrEMBL
      A8K3A1
      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
      A6NCD5, O14977, Q6IBQ7, Q96D20
      UniProtKB/TrEMBL
      A8K3A1
      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
      A6NCD5, O14977, Q6IBQ7, Q96D20
      UniProtKB/TrEMBL
      A8K3A1
      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: GCF_000001405.40-RS_2023_10

    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_047421861.1XP_047277817.1  antizyme inhibitor 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HLH4
    2. XM_047421862.1XP_047277818.1  antizyme inhibitor 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HLH4
    3. XM_047421860.1XP_047277816.1  antizyme inhibitor 1 isoform X1

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

    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_054360642.1XP_054216617.1  antizyme inhibitor 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HLH4
    2. XM_054360643.1XP_054216618.1  antizyme inhibitor 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HLH4
    3. XM_054360641.1XP_054216616.1  antizyme inhibitor 1 isoform X1

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