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

Gene ID: 272, updated on 5-Mar-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
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Genomic context

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See AMPD3 in Genome Data Viewer
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
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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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