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    Ampd3 adenosine monophosphate deaminase 3 [ Mus musculus (house mouse) ]

    Gene ID: 11717, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ampd3provided by MGI
    Official Full Name
    adenosine monophosphate deaminase 3provided by MGI
    Primary source
    MGI:MGI:1096344
    See related
    Ensembl:ENSMUSG00000005686 AllianceGenome:MGI:1096344
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    This gene encodes a member of the adenosine and AMP deaminases family. The encoded protein is an AMP deaminase involved in nucleotide and energy metabolism in erythrocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in ovary adult (RPKM 15.7), subcutaneous fat pad adult (RPKM 12.5) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ampd3 in Genome Data Viewer
    Location:
    7 E3; 7 57.85 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (110367291..110411612)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (110767790..110812409)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_19832 Neighboring gene predicted gene, 39068 Neighboring gene RIKEN cDNA B430319F04 gene Neighboring gene predicted gene, 39069 Neighboring gene ring finger protein 141 Neighboring gene STARR-positive B cell enhancer ABC_E2250 Neighboring gene lymphatic vessel endothelial hyaluronan receptor 1 Neighboring gene STARR-seq mESC enhancer starr_19833 Neighboring gene inositol 1,4,5-triphosphate receptor associated 1 Neighboring gene predicted gene 16336

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Adenosine monophosphate deaminase 3 null mutation causes reduction of naive T cells in mouse peripheral blood. Zhan X, et al. Blood Adv, 2020 Aug 11. PMID 32761233, Free PMC Article
    2. AMPD3 is involved in anthrax LeTx-induced macrophage cell death. Lee S, et al. Protein Cell, 2011 Jul. PMID 21822801, Free PMC Article
    3. Adenosine monophosphate deaminase 3 activation shortens erythrocyte half-life and provides malaria resistance in mice. Hortle E, et al. Blood, 2016 Sep 1. PMID 27465915, Free PMC Article
    4. CD73 and AMPD3 deficiency enhance metabolic performance via erythrocyte ATP that decreases hemoglobin oxygen affinity. O'Brien WG 3rd, et al. Sci Rep, 2015 Aug 7. PMID 26249166, Free PMC Article
    5. Genomic organization of Ampd3, heart-type AMPD gene, located in mouse chromosome 7. Sermsuvitayawong K, et al. Mamm Genome, 1997 Oct. PMID 9321472

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Erythrocyte ENT1-AMPD3 Axis is an Essential Purinergic Hypoxia Sensor and Energy Regulator Combating CKD in a Mouse Model.
      Title: Erythrocyte ENT1-AMPD3 Axis is an Essential Purinergic Hypoxia Sensor and Energy Regulator Combating CKD in a Mouse Model.
    2. Adenosine monophosphate deaminase 3 null mutation causes reduction of naive T cells in mouse peripheral blood.
      Title: Adenosine monophosphate deaminase 3 null mutation causes reduction of naive T cells in mouse peripheral blood.
    3. Data show that AMP deaminase 3 (Ampd3)-/-/5'-nucleotidase (CD73)-/- knockout mice are more sensitive to AMP-induced hypometabolism than mice with a single enzyme deficiency, which are more sensitive than wild type.
      Title: New insights on the regulation of the adenine nucleotide pool of erythrocytes in mouse models.
    4. depletion of the epigenome modifier histone deacetylase 3 (HDAC3) specifically in skeletal muscle causes severe systemic insulin resistance in mice but markedly enhances endurance and resistance to muscle fatigue, despite reducing muscle force. This is due to lower glucose utilization and greater lipid oxidation in HDAC3-depleted muscles, a fuel switch caused by the activation of anaplerotic reactions driven by Ampd3.
      Title: Dissociation of muscle insulin sensitivity from exercise endurance in mice by HDAC3 depletion.
    5. Mice carrying the mutation exhibit rapid RBC turnover, with increased erythropoiesis, dramatically shortened RBC lifespan, and signs of increased RBC senescence/eryptosis, suggesting a key role for AMPD3 in determining RBC half-life. Mice were also found to be resistant to infection with the rodent malaria Plasmodium chabaudi.
      Title: Adenosine monophosphate deaminase 3 activation shortens erythrocyte half-life and provides malaria resistance in mice.
    6. Erythrocytes from Ampd3(-/-) mice exhibited higher half-saturation pressure of oxygen.
      Title: CD73 and AMPD3 deficiency enhance metabolic performance via erythrocyte ATP that decreases hemoglobin oxygen affinity.
    7. effect of AMP-deaminase 3 knock-out in mice on enzyme activity in heart and other organs
      Title: Effect of AMP-deaminase 3 knock-out in mice on enzyme activity in heart and other organs.
    8. AMP deaminase-deficient models demonstrate for the first time that AMPD3 plays a critical role in remote reperfusion lung injury via generation of inosine monophosphate (IMP).
      Title: AMP deaminase 3 plays a critical role in remote reperfusion lung injury.
    9. AMPD3 deficiency increases the level of ATP in erythrocytes, but does not improve anemia due to pyruvate kinase deficiency and leads to erythrocyte dysfunction.
      Title: AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency.
    10. Along with the activation of AMPD3, ischemia-reperfusion-induced lung inflammation is associated with increased MPO activity and TNF-alpha level.
      Title: Remote reperfusion lung injury is associated with AMP deaminase 3 activation and attenuated by inosine monophosphate.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables AMP deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables AMP deaminase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables AMP deaminase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables AMP deaminase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in ADP catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within ADP metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ADP metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in AMP catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in AMP metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within AMP metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in AMP metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ATP metabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within ATP metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ATP metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in GTP metabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in GTP metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in IMP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within IMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within IMP biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in IMP salvage IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in IMP salvage IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within energy homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in erythrocyte homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    AMP deaminase 3
    Names
    AMP deaminase H-type
    heart-type AMPD
    NP_001263230.1
    NP_001359368.1
    NP_001359370.1
    NP_001398841.1
    NP_001398842.1
    NP_001398843.1
    NP_001398844.1
    NP_033797.2
    XP_030097862.1
    XP_036008472.1
    XP_036008473.1

    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_001276301.2 → NP_001263230.1  AMP deaminase 3 isoform 1

      See identical proteins and their annotated locations for NP_001263230.1

      Status: REVIEWED

      Source sequence(s)
      AC122844
      Consensus CDS
      CCDS21747.1
      UniProtKB/Swiss-Prot
      O08739, O88692, Q8CFR4
      Related
      ENSMUSP00000130495.2, ENSMUST00000170374.8
      Conserved Domains (1) summary
      TIGR01429
      Location:146 → 752
      AMP_deaminase; AMP deaminase

    2. NM_001372439.2 → NP_001359368.1  AMP deaminase 3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC122844
      Conserved Domains (1) summary
      TIGR01429
      Location:154 → 760
      AMP_deaminase; AMP deaminase

    3. NM_001372441.2 → NP_001359370.1  AMP deaminase 3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC122844
      Consensus CDS
      CCDS90309.1
      UniProtKB/TrEMBL
      A0A1L1SRX2
      Related
      ENSMUSP00000149655.2, ENSMUST00000213373.2
      Conserved Domains (1) summary
      TIGR01429
      Location:155 → 761
      AMP_deaminase; AMP deaminase

    4. NM_001411912.1 → NP_001398841.1  AMP deaminase 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC122844
      UniProtKB/Swiss-Prot
      O08739, O88692, Q8CFR4

    5. NM_001411913.1 → NP_001398842.1  AMP deaminase 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC122844
      UniProtKB/Swiss-Prot
      O08739, O88692, Q8CFR4

    6. NM_001411914.1 → NP_001398843.1  AMP deaminase 3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC122844
      UniProtKB/Swiss-Prot
      O08739, O88692, Q8CFR4

    7. NM_001411915.1 → NP_001398844.1  AMP deaminase 3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC122844

    8. NM_009667.4 → NP_033797.2  AMP deaminase 3 isoform 1

      See identical proteins and their annotated locations for NP_033797.2

      Status: REVIEWED

      Source sequence(s)
      AC122844
      Consensus CDS
      CCDS21747.1
      UniProtKB/Swiss-Prot
      O08739, O88692, Q8CFR4
      Related
      ENSMUSP00000005829.7, ENSMUST00000005829.13
      Conserved Domains (1) summary
      TIGR01429
      Location:146 → 752
      AMP_deaminase; AMP deaminase

    RNA

    1. NR_183246.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC122844

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      110367291..110411612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030242002.2 → XP_030097862.1  AMP deaminase 3 isoform X2

      UniProtKB/Swiss-Prot
      O08739, O88692, Q8CFR4
      Conserved Domains (1) summary
      TIGR01429
      Location:146 → 752
      AMP_deaminase; AMP deaminase

    2. XM_036152580.1 → XP_036008473.1  AMP deaminase 3 isoform X3

      Conserved Domains (1) summary
      cl00281
      Location:154 → 485
      metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

    3. XM_036152579.1 → XP_036008472.1  AMP deaminase 3 isoform X2

      UniProtKB/Swiss-Prot
      O08739, O88692, Q8CFR4
      Conserved Domains (1) summary
      TIGR01429
      Location:146 → 752
      AMP_deaminase; AMP deaminase

    RNA

    1. XR_378209.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O08739.2 GenPept UniProtKB/Swiss-Prot:O08739

    Gene LinkOut

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

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