AMPD3

AMP deaminase 3 is an enzyme that in humans is encoded by the AMPD3 gene.^[5][6]

AliasesAMPD3, adenosine monophosphate deaminase 3

External IDsOMIM: 102772; MGI: 1096344; HomoloGene: 408; GeneCards: AMPD3; OMA:AMPD3 - orthologs

Chr.Chromosome 11 (human)^[1]

End10,507,579 bp^[1]

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AMPD3
Identifiers
Aliases	AMPD3, adenosine monophosphate deaminase 3
External IDs	OMIM: 102772; MGI: 1096344; HomoloGene: 408; GeneCards: AMPD3; OMA:AMPD3 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p15.4 Start 10,308,313 bp[1] End 10,507,579 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 E3|7 57.85 cM Start 110,367,413 bp[2] End 110,411,612 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in glutes dorsal motor nucleus of vagus nerve tibialis anterior muscle cartilage tissue inferior olivary nucleus secondary oocyte trabecular bone right uterine tube bone marrow inferior ganglion of vagus nerve Top expressed in decidua gastrula granulocyte umbilical cord stroma of bone marrow seminal vesicula cervix myocardium of ventricle secondary oocyte primary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function hydrolase activity metal ion binding deaminase activity AMP deaminase activity protein binding Cellular component cytosol extracellular region secretory granule lumen ficolin-1-rich granule lumen Biological process GTP metabolic process purine ribonucleoside monophosphate biosynthetic process erythrocyte homeostasis nucleotide metabolic process AMP metabolic process ADP metabolic process purine-containing compound salvage IMP salvage energy homeostasis ATP metabolic process AMP catabolic process IMP biosynthetic process neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 272 11717 Ensembl ENSG00000133805 ENSMUSG00000005686 UniProt Q01432 O08739 RefSeq (mRNA) NM_001172431 NM_000480 NM_001025389 NM_001025390 NM_001172430 NM_001276301 NM_009667 NM_001372439 NM_001372441 RefSeq (protein) NP_000471 NP_001020560 NP_001020561 NP_001165901 NP_001165902 NP_001263230 NP_033797 NP_001359368 NP_001359370 Location (UCSC) Chr 11: 10.31 – 10.51 Mb Chr 7: 110.37 – 110.41 Mb PubMed search [3] [4]
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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.^[6]