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) ... See more...

Aliases for AMPD3 Gene

Aliases for AMPD3 Gene

  • Adenosine Monophosphate Deaminase 3 2 3 5
  • Adenosine Monophosphate Deaminase (Isoform E) 2 3
  • Erythrocyte-Specific AMP Deaminase 2 3
  • Erythrocyte AMP Deaminase 3 4
  • AMP Deaminase 3 3 4
  • EC 3.5.4.6 4 52
  • Erythrocyte Type AMP Deaminase 3
  • AMP Deaminase Isoform E 4
  • Myoadenylate Deaminase 3
  • AMP Aminohydrolase 3

External Ids for AMPD3 Gene

Previous GeneCards Identifiers for AMPD3 Gene

  • GC11P011483
  • GC11P011042
  • GC11P010511
  • GC11P010436
  • GC11P010428
  • GC11P010144
  • GC11P010329

Summaries for AMPD3 Gene

Entrez Gene Summary for AMPD3 Gene

  • 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]

GeneCards Summary for AMPD3 Gene

AMPD3 (Adenosine Monophosphate Deaminase 3) is a Protein Coding gene. Diseases associated with AMPD3 include Erythrocyte Amp Deaminase Deficiency and Myopathy Due To Myoadenylate Deaminase Deficiency. Among its related pathways are Innate Immune System and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include deaminase activity and AMP deaminase activity. An important paralog of this gene is AMPD1.

UniProtKB/Swiss-Prot Summary for AMPD3 Gene

Gene Wiki entry for AMPD3 Gene

Additional gene information for AMPD3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMPD3 Gene

Genomics for AMPD3 Gene

GeneHancer (GH) Regulatory Elements for AMPD3 Gene

Promoters and enhancers for AMPD3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J010300 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -2.5 -2453 10.1 ZNF217 CTCF NRF1 TCF12 POLR2G USF1 NCOR1 PHF8 JUND FOS SBF2 ADM AMPD3 LOC105376544 ZBED5 ENSG00000254554 CTR9 ENSG00000239470 WEE1 ENSG00000254397
GH11J010454 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 522.1 +149.0 148956 6.4 ZBTB40 SIN3A SP1 PHB2 FOS ZIC2 REST POLR2A ZBTB11 TAF7 AMPD3 CTR9 MTRNR2L8 LYVE1 MRVI1 piR-40110-082 piR-40110-081
GH11J010449 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 522.8 +143.0 143025 3.2 CTCF ZFX POLR2A TBP PHF8 MEF2B ZBTB48 EZH2 EBF1 IKZF1 AMPD3 CTR9 MTRNR2L8 LYVE1 MRVI1 piR-40110-082 piR-40110-081
GH11J010435 Enhancer 1.3 FANTOM5 Ensembl ENCODE 29.8 +132.4 132388 12.6 EP300 ZNF623 RELA MEF2C TRIM22 RBM25 BCL11A TCF12 ZNF316 CBFB AMPD3 CTR9 LYVE1 MRVI1 SBF2 ZBED5 EIF4G2 ADM piR-40110-081 piR-40110-082
GH11J010413 Enhancer 0.9 FANTOM5 ENCODE 42.4 +106.1 106127 2.2 CTCF REST RAD21 CTBP1 SMC3 ZNF316 SPI1 NFE2 E2F6 MAFK AMPD3 CTR9 MRVI1-AS1 RNF141 LYVE1 MRVI1 SBF2 EIF4G2 ZBED5 ADM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMPD3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMPD3

Top Transcription factor binding sites by QIAGEN in the AMPD3 gene promoter:
  • c-Myc
  • Lmo2
  • Max1
  • MAZR

Genomic Locations for AMPD3 Gene

Genomic Locations for AMPD3 Gene
chr11:10,308,313-10,507,579
(GRCh38/hg38)
Size:
199,267 bases
Orientation:
Plus strand
chr11:10,329,860-10,529,126
(GRCh37/hg19)
Size:
199,267 bases
Orientation:
Plus strand

Genomic View for AMPD3 Gene

Genes around AMPD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMPD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMPD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMPD3 Gene

Proteins for AMPD3 Gene

  • Protein details for AMPD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01432-AMPD3_HUMAN
    Recommended name:
    AMP deaminase 3
    Protein Accession:
    Q01432
    Secondary Accessions:
    • A0AUX0
    • B7Z2S2
    • B7Z763
    • B7Z877

    Protein attributes for AMPD3 Gene

    Size:
    767 amino acids
    Molecular mass:
    88812 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homotetramer.

    Alternative splice isoforms for AMPD3 Gene

neXtProt entry for AMPD3 Gene

Selected DME Specific Peptides for AMPD3 Gene

Q01432:
  • RPHCGEAG
  • QNPPYSYYLYY
  • QFHYTKE
  • PHRDFYN
  • TFHRFDKFN

Post-translational modifications for AMPD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for AMPD3 Gene

Gene Families for AMPD3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for AMPD3 Gene

Blocks:
  • Adenosine/AMP deaminase active site
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AMPD3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76195, highly similar to Homo sapiens adenosine monophosphate deaminase (isoform E) (AMPD3),mRNA (A0AUX0_HUMAN)
  • Erythrocyte AMP deaminase (AMPD3_HUMAN)
  • cDNA FLJ51124, highly similar to AMP deaminase 3 (EC 3.5.4.6) (B7Z763_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01432

UniProtKB/Swiss-Prot:

AMPD3_HUMAN :
  • Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
Family:
  • Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
genes like me logo Genes that share domains with AMPD3: view

Function for AMPD3 Gene

Molecular function for AMPD3 Gene

UniProtKB/Swiss-Prot Function:
AMP deaminase plays a critical role in energy metabolism.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=AMP + H(+) + H2O = IMP + NH4(+); Xref=Rhea:RHEA:14777, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28938, ChEBI:CHEBI:58053, ChEBI:CHEBI:456215; EC=3.5.4.6;.

Enzyme Numbers (IUBMB) for AMPD3 Gene

Phenotypes From GWAS Catalog for AMPD3 Gene

Gene Ontology (GO) - Molecular Function for AMPD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003876 AMP deaminase activity IBA 21873635
GO:0005515 protein binding IPI 25910212
GO:0016787 hydrolase activity IEA --
GO:0019239 deaminase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AMPD3: view
genes like me logo Genes that share phenotypes with AMPD3: view

Human Phenotype Ontology for AMPD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AMPD3 Gene

MGI Knock Outs for AMPD3:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for AMPD3 Gene

Localization for AMPD3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMPD3 gene
Compartment Confidence
extracellular 4
nucleus 4
cytosol 4
mitochondrion 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMPD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005829 cytosol TAS --
GO:0034774 secretory granule lumen TAS --
GO:1904813 ficolin-1-rich granule lumen TAS --
genes like me logo Genes that share ontologies with AMPD3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for AMPD3 Gene

Pathways & Interactions for AMPD3 Gene

genes like me logo Genes that share pathways with AMPD3: view

Pathways by source for AMPD3 Gene

1 GeneGo (Thomson Reuters) pathway for AMPD3 Gene
  • ATP/ITP metabolism

UniProtKB/Swiss-Prot Q01432-AMPD3_HUMAN

  • Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.

Gene Ontology (GO) - Biological Process for AMPD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006188 IMP biosynthetic process IBA 21873635
GO:0006196 AMP catabolic process TAS 9291127
GO:0009117 nucleotide metabolic process IEA --
GO:0009168 purine ribonucleoside monophosphate biosynthetic process IEA --
GO:0032264 IMP salvage IEA --
genes like me logo Genes that share ontologies with AMPD3: view

No data available for SIGNOR curated interactions for AMPD3 Gene

Drugs & Compounds for AMPD3 Gene

(26) Drugs for AMPD3 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cladribine Approved, Investigational Pharma Apoptosis inducer in CLL cells 101
Ammonia Approved Pharma 0
Propranolol Approved, Investigational Pharma Antagonist, Inhibition, Inhibitor Beta blocker 279
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0

(26) Additional Compounds for AMPD3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for AMPD3 Gene

Compound Action Cas Number
Cladribine Apoptosis inducer in CLL cells 4291-63-8
genes like me logo Genes that share compounds with AMPD3: view

Drug Products

Transcripts for AMPD3 Gene

mRNA/cDNA for AMPD3 Gene

5 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMPD3 Gene

No ASD Table

Relevant External Links for AMPD3 Gene

GeneLoc Exon Structure for
AMPD3

Expression for AMPD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AMPD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMPD3 Gene

This gene is overexpressed in Muscle - Skeletal (x8.8) and Whole Blood (x4.3).

Protein differential expression in normal tissues from HIPED for AMPD3 Gene

This gene is overexpressed in Lymph node (49.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AMPD3 Gene



Protein tissue co-expression partners for AMPD3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMPD3

SOURCE GeneReport for Unigene cluster for AMPD3 Gene:

Hs.501890

Evidence on tissue expression from TISSUES for AMPD3 Gene

  • Nervous system(4.6)
  • Skin(4.2)
  • Muscle(2.7)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AMPD3 Gene

Germ Layers:
  • mesoderm
Systems:
  • skeletal muscle
genes like me logo Genes that share expression patterns with AMPD3: view

No data available for mRNA Expression by UniProt/SwissProt for AMPD3 Gene

Orthologs for AMPD3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AMPD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMPD3 31 30
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AMPD3 31 30
  • 93.19 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMPD3 31
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AMPD3 31 30
  • 89.74 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMPD3 31
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ampd3 17 31 30
  • 88.32 (n)
rat
(Rattus norvegicus)
Mammalia Ampd3 30
  • 87.87 (n)
chicken
(Gallus gallus)
Aves AMPD3 31 30
  • 75.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMPD3 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ampd3 30
  • 74.84 (n)
zebrafish
(Danio rerio)
Actinopterygii ampd3a 31
  • 73 (a)
OneToMany
ampd3b 31
  • 72 (a)
OneToMany
LOC556578 30
  • 69.9 (n)
wufi25h10 30
worm
(Caenorhabditis elegans)
Secernentea C34F11.3a 32
  • 53 (a)
C34F11.3b 32
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AMD1 31
  • 39 (a)
OneToMany
wheat
(Triticum aestivum)
Liliopsida Ta.6820 30
barley
(Hordeum vulgare)
Liliopsida Hv.6749 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 57 (a)
OneToMany
Cin.4939 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4939 30
Species where no ortholog for AMPD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AMPD3 Gene

ENSEMBL:
Gene Tree for AMPD3 (if available)
TreeFam:
Gene Tree for AMPD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AMPD3: view image

Paralogs for AMPD3 Gene

Paralogs for AMPD3 Gene

(2) SIMAP similar genes for AMPD3 Gene using alignment to 7 proteins:

  • AMPD3_HUMAN
  • E9PIR5_HUMAN
  • E9PKC5_HUMAN
  • E9PLK6_HUMAN
  • E9PPG2_HUMAN
  • H0YDC3_HUMAN
  • H0YDY8_HUMAN
genes like me logo Genes that share paralogs with AMPD3: view

Variants for AMPD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMPD3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
750159 Likely Benign: not provided 10,484,827(+) C/T SYNONYMOUS_VARIANT
768426 Benign: not provided 10,495,666(+) T/C MISSENSE_VARIANT
776586 Benign: not provided 10,493,490(+) G/A MISSENSE_VARIANT
787375 Benign: not provided 10,493,476(+) G/A MISSENSE_VARIANT
rs1037998 Benign: Erythrocyte AMP deaminase deficiency 10,506,974(+) A/G THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for AMPD3 Gene

Structural Variations from Database of Genomic Variants (DGV) for AMPD3 Gene

Variant ID Type Subtype PubMed ID
esv3625358 CNV gain 21293372
nsv518705 CNV loss 19592680
nsv519987 CNV gain 19592680
nsv526453 CNV loss 19592680
nsv553478 CNV loss 21841781
nsv972946 CNV duplication 23825009
nsv975881 CNV duplication 23825009

Variation tolerance for AMPD3 Gene

Residual Variation Intolerance Score: 36.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.69; 66.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMPD3 Gene

Human Gene Mutation Database (HGMD)
AMPD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMPD3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMPD3 Gene

Disorders for AMPD3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for AMPD3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AMPD3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AMPD3_HUMAN
  • Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]: A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders. {ECO:0000269 PubMed:11139257, ECO:0000269 PubMed:7881427, ECO:0000269 PubMed:8004104, ECO:0000269 PubMed:9598089}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AMPD3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AMPD3: view

No data available for Genatlas for AMPD3 Gene

Publications for AMPD3 Gene

  1. Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons. (PMID: 1400401) Mahnke-Zizelman DK … Sabina RL (The Journal of biological chemistry 1992) 2 3 4 23 54
  2. A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3. (PMID: 11139257) Yamada Y … Ogasawara N (Human mutation 2001) 3 4 23 54
  3. Characterization of the human AMPD3 gene reveals that 5' exon useage is subject to transcriptional control by three tandem promoters and alternative splicing. (PMID: 8611627) Mahnke-Zizelman DK … Sabina RL (Biochimica et biophysica acta 1996) 3 4 23 54
  4. A point mutation responsible for human erythrocyte AMP deaminase deficiency. (PMID: 8004104) Yamada Y … Ogasawara N (Human molecular genetics 1994) 3 4 23 54
  5. Cloning and nucleotide sequence of the cDNA encoding human erythrocyte-specific AMP deaminase. (PMID: 1420359) Yamada Y … Ogasawara N (Biochimica et biophysica acta 1992) 3 4 23 54

Products for AMPD3 Gene

Sources for AMPD3 Gene