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    OAZ3 ornithine decarboxylase antizyme 3 [ Homo sapiens (human) ]

    Gene ID: 51686, updated on 2-Nov-2024

    Summary

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    Official Symbol
    OAZ3provided by HGNC
    Official Full Name
    ornithine decarboxylase antizyme 3provided by HGNC
    Primary source
    HGNC:HGNC:8097
    See related
    Ensembl:ENSG00000143450 MIM:605138; AllianceGenome:HGNC:8097
    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
    AZ3; OAZ-t; TISP15
    Summary
    The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 3, the third member of the antizyme family. Like antizymes 1 and 2, antizyme 3 inhibits ODC activity and polyamine uptake; however, it does not stimulate ODC degradation. Also, while antizymes 1 and 2 have broad tissue distribution, expression of antizyme 3 is restricted to haploid germ cells in testis, suggesting a distinct role for this antizyme in spermiogenesis. Antizyme 3 gene knockout studies showed that homozygous mutant male mice were infertile, and indicated the likely role of this antizyme in the formation of a rigid connection between the sperm head and tail during spermatogenesis. Alternatively spliced transcript variants encoding different isoforms, including one resulting from the use of non-AUG (CUG) translation initiation codon, have been found for this gene. [provided by RefSeq, Dec 2014]
    Expression
    Biased expression in testis (RPKM 63.7) and prostate (RPKM 6.3) See more
    Orthologs
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    Genomic context

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    See OAZ3 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151762969..151771330)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150886358..150894807)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151735445..151743806)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 662, pseudogene Neighboring gene ribosomal protein S11 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1724 Neighboring gene mitochondrial ribosomal protein L9 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:151741546-151742242 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151742243-151742937 Neighboring gene tudor and KH domain containing Neighboring gene chloride nucleotide-sensitive channel 1A pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1326 Neighboring gene TDRKH antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3. Christensen GL, et al. BMC Med Genet, 2006 Mar 16. PMID 16542438, Free PMC Article
    2. Discovery of a spermatogenesis stage-specific ornithine decarboxylase antizyme: antizyme 3. Ivanov IP, et al. Proc Natl Acad Sci U S A, 2000 Apr 25. PMID 10781085, Free PMC Article
    3. Regulation of all members of the antizyme family by antizyme inhibitor. Mangold U, et al. Biochem J, 2005 Jan 1. PMID 15355308, Free PMC Article
    4. ODCp, a brain- and testis-specific ornithine decarboxylase paralogue, functions as an antizyme inhibitor, although less efficiently than AzI1. Snapir Z, et al. Biochem J, 2008 Mar 15. PMID 18062773
    5. Dendritic growth induced by BMP-7 requires Smad1 and proteasome activity. Guo X, et al. J Neurobiol, 2001 Aug. PMID 11438941

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3.
    2. Mutations in the OAZ3 gene are not a common cause of male infertility.
      Title: Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3.
    3. antizyme expression requires programmed, ribosomal frameshifting
      Title: Discovery of a spermatogenesis stage-specific ornithine decarboxylase antizyme: antizyme 3.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ornithine decarboxylase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ornithine decarboxylase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		  
    enables ornithine decarboxylase inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of polyamine transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in polyamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in viral translational frameshifting IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ornithine decarboxylase antizyme 3
    Names
    ODC-Az 3
    antizyme 3
    testicular secretory protein Li 31

    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_001134939.1 → NP_001128411.1  ornithine decarboxylase antizyme 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation from an AUG start codon, compared to variant 1. The resulting isoform (2) is shorter with a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AF175296, BC073949
      Consensus CDS
      CCDS58028.1
      UniProtKB/TrEMBL
      A0A0G2JH29
      Related
      ENSP00000313922.5, ENST00000321531.10
      Conserved Domains (2) summary
      pfam02100
      Location:87 → 178
      ODC_AZ; Ornithine decarboxylase antizyme
      cl19115
      Location:67 → 94
      Cupredoxin; Cupredoxin superfamily

    2. NM_001301371.1 → NP_001288300.1  ornithine decarboxylase antizyme 3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and initiates translation from an AUG start codon, compared to variant 1. The resulting isoform (3) is shorter with a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      BC073949, BI830988
      Consensus CDS
      CCDS76216.1
      UniProtKB/TrEMBL
      H0Y7Y4
      Related
      ENSP00000415904.2, ENST00000453029.2
      Conserved Domains (2) summary
      pfam02100
      Location:100 → 191
      ODC_AZ; Ornithine decarboxylase antizyme
      cl19115
      Location:80 → 107
      Cupredoxin; Cupredoxin superfamily

    3. NM_016178.2 → NP_057262.2  ornithine decarboxylase antizyme 3 isoform 1

      See identical proteins and their annotated locations for NP_057262.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) initiates translation from a non-AUG (CUG) start codon, and encodes the longest isoform (1).
      Source sequence(s)
      AF175296, BC073949
      Consensus CDS
      CCDS81378.1
      UniProtKB/Swiss-Prot
      E7EUE7, Q6GMR0, Q9UMX2
      UniProtKB/TrEMBL
      A8MW57
      Related
      ENSP00000383784.3, ENST00000400999.7
      Conserved Domains (2) summary
      pfam02100
      Location:132 → 223
      ODC_AZ; Ornithine decarboxylase antizyme
      cl19115
      Location:112 → 139
      Cupredoxin; Cupredoxin superfamily

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      151762969..151771330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      150886358..150894807
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UMX2.2 GenPept UniProtKB/Swiss-Prot:Q9UMX2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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