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    AMPD3 adenosine monophosphate deaminase 3 [ Homo sapiens (human) ]

    Gene ID: 272, updated on 22-Apr-2024

    Summary

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    Official Symbol
    AMPD3provided by HGNC
    Official Full Name
    adenosine monophosphate deaminase 3provided by HGNC
    Primary source
    HGNC:HGNC:470
    See related
    Ensembl:ENSG00000133805 MIM:102772; AllianceGenome:HGNC:470
    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
    Summary
    This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in bone marrow (RPKM 15.7), appendix (RPKM 8.4) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11p15.4
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (10450388..10507579)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (10534888..10592054)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (10471935..10529126)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3147 Neighboring gene Sharpr-MPRA regulatory region 210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3149 Neighboring gene uncharacterized LOC100130460 Neighboring gene Sharpr-MPRA regulatory region 6386 Neighboring gene adrenomedullin Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:10361038-10361538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:10361539-10362039 Neighboring gene VISTA enhancer hs2289 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:10375005-10375536 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:10375537-10376067 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:10388109-10388608 Neighboring gene Sharpr-MPRA regulatory region 7754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:10413861-10414740 Neighboring gene RNA, U6atac small nuclear 33, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:10430865-10431365 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:10430364-10430864 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:10437608-10437821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:10500293-10500792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:10509586-10510490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:10521616-10522209 Neighboring gene Sharpr-MPRA regulatory region 11145 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:10532526-10533436 Neighboring gene MT-RNR2 like 8 (pseudogene) Neighboring gene microRNA 4485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4437 Neighboring gene ring finger protein 141

    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
    • 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. Down-regulation of AMPD3 Is Associated With Poor Survival in Head and Neck Squamous Cell Carcinoma. Hsu CM, et al. In Vivo, 2022 Mar-Apr. PMID 35241525, Free PMC Article
    2. The contribution of Ca+ calmodulin activation of human erythrocyte AMP deaminase (isoform E) to the erythrocyte metabolic dysregulation of familial phosphofructokinase deficiency. Sabina RL, et al. Haematologica, 2006 May. PMID 16670071
    3. Calcium activates erythrocyte AMP deaminase [isoform E (AMPD3)] through a protein-protein interaction between calmodulin and the N-terminal domain of the AMPD3 polypeptide. Mahnke DK, et al. Biochemistry, 2005 Apr 12. PMID 15807549
    4. Coordinate induction of AMP deaminase in human atrium with mitochondrial DNA deletion. Tomikura Y, et al. Biochem Biophys Res Commun, 2003 Mar 7. PMID 12604357
    5. A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3. Yamada Y, et al. Hum Mutat, 2001. PMID 11139257

    See all (33) 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 in the endoplasmic reticulum-mitochondria interface promotes mitochondrial Ca[2+] overload in type 2 diabetes rat hearts.
      Title: Adenosine monophosphate deaminase in the endoplasmic reticulum-mitochondria interface promotes mitochondrial Ca(2+) overload in type 2 diabetes rat hearts.
    3. Down-regulation of AMPD3 Is Associated With Poor Survival in Head and Neck Squamous Cell Carcinoma.
      Title: Down-regulation of AMPD3 Is Associated With Poor Survival in Head and Neck Squamous Cell Carcinoma.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. may control the systemic metabolic status by changing AMPK activity through the AMP level.
      Title: [AMPD genes and urate metabolism].
    6. The primary underlying mechanism for increased catabolic flow through the AMP deaminase reaction in circulating erythrocytes of individuals with familial phosphofructokinase deficiency is Ca2+-calmodulin activation of AMP deaminase isoform E.
      Title: The contribution of Ca+ calmodulin activation of human erythrocyte AMP deaminase (isoform E) to the erythrocyte metabolic dysregulation of familial phosphofructokinase deficiency.
    7. N-terminal sequence and distal histidine residues are responsible for pH-regulated cytoplasmic membrane binding
      Title: N-terminal sequence and distal histidine residues are responsible for pH-regulated cytoplasmic membrane binding of human AMP deaminase isoform E.
    8. mtDNA deletion coordinately induces AMP deaminase to contribute to the loss of atrial adenine nucleotides through degrading AMP excessively.
      Title: Coordinate induction of AMP deaminase in human atrium with mitochondrial DNA deletion.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Erythrocyte AMP deaminase deficiency
    MedGen: C2752073 OMIM: 612874 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    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)

    Genotypes

    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 GOA

    Function Evidence Code Pubs
    enables AMP deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables AMP deaminase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in AMP catabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in AMP metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in IMP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in IMP salvage IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    AMP deaminase 3
    Names
    AMP aminohydrolase
    adenosine monophosphate deaminase (isoform E)
    erythrocyte AMP deaminase
    erythrocyte type AMP deaminase
    erythrocyte-specific AMP deaminase
    myoadenylate deaminase
    NP_000471.1
    NP_001020560.1
    NP_001020561.1
    NP_001165901.1
    NP_001165902.1

    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.

    Genomic

    1. NG_012041.1 RefSeqGene

      Range
      9588..61903
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000480.3 → NP_000471.1  AMP deaminase 3 isoform 1A

      See identical proteins and their annotated locations for NP_000471.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1A).
      Source sequence(s)
      AC021914, M84720, M84722
      Consensus CDS
      CCDS7802.1
      UniProtKB/TrEMBL
      E9PKC5
      Related
      ENSP00000379802.3, ENST00000396554.7
      Conserved Domains (1) summary
      TIGR01429
      Location:155 → 762
      AMP_deaminase; AMP deaminase

    2. NM_001025389.2 → NP_001020560.1  AMP deaminase 3 isoform 1B

      See identical proteins and their annotated locations for NP_001020560.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon for its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 1B, which has a shorter N-terminus, compared to isoform 1A.
      Source sequence(s)
      AC021914, D12775
      Consensus CDS
      CCDS41617.1
      UniProtKB/Swiss-Prot
      A0AUX0, B7Z2S2, B7Z763, B7Z877, Q01432
      UniProtKB/TrEMBL
      E9PKC5
      Related
      ENSP00000379801.2, ENST00000396553.7
      Conserved Domains (2) summary
      PLN03055
      Location:146 → 754
      PLN03055; AMP deaminase; Provisional
      TIGR01429
      Location:146 → 753
      AMP_deaminase; AMP deaminase

    3. NM_001025390.2 → NP_001020561.1  AMP deaminase 3 isoform 1C

      See identical proteins and their annotated locations for NP_001020561.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate, in-frame exon for its 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 1C, which has a shorter, distinct N-terminus, compared to isoform 1A.
      Source sequence(s)
      AC021914, M84722
      Consensus CDS
      CCDS44537.1
      UniProtKB/TrEMBL
      E9PKC5
      Related
      ENSP00000436987.1, ENST00000528723.5
      Conserved Domains (2) summary
      PLN03055
      Location:153 → 761
      PLN03055; AMP deaminase; Provisional
      TIGR01429
      Location:153 → 760
      AMP_deaminase; AMP deaminase

    4. NM_001172430.1 → NP_001165901.1  AMP deaminase 3 isoform 1B

      See identical proteins and their annotated locations for NP_001165901.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon for its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 1B, which has a shorter N-terminus, compared to isoform 1A.
      Source sequence(s)
      AC021914, DC401375, M84721
      Consensus CDS
      CCDS41617.1
      UniProtKB/Swiss-Prot
      A0AUX0, B7Z2S2, B7Z763, B7Z877, Q01432
      UniProtKB/TrEMBL
      E9PKC5
      Related
      ENSP00000431648.1, ENST00000529507.5
      Conserved Domains (2) summary
      PLN03055
      Location:146 → 754
      PLN03055; AMP deaminase; Provisional
      TIGR01429
      Location:146 → 753
      AMP_deaminase; AMP deaminase

    5. NM_001172431.2 → NP_001165902.1  AMP deaminase 3 isoform 4

      See identical proteins and their annotated locations for NP_001165902.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate exon for its 5' UTR, lacks portions of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 4, which has a shorter N-terminus, compared to isoform 1A.
      Source sequence(s)
      AC021914, AK295046, BC126118
      Consensus CDS
      CCDS53601.1
      UniProtKB/TrEMBL
      B7Z282
      Related
      ENSP00000396000.2, ENST00000444303.6
      Conserved Domains (2) summary
      PLN03055
      Location:20 → 595
      PLN03055; AMP deaminase; Provisional
      TIGR01429
      Location:1 → 594
      AMP_deaminase; AMP deaminase

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      10450388..10507579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      10534888..10592054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01432.1 GenPept UniProtKB/Swiss-Prot:Q01432

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