Entity Details
Primary name |
AMPD3_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | Q01432 |
EntryName | AMPD3_HUMAN |
FullName | AMP deaminase 3 |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 767 |
SequenceStatus | complete |
DateCreated | 1993-07-01 |
DateModified | 2021-06-02 |
Subcellular Location
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Domains
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Domain | Name | Category | Type |
IPR001365 | Adenosine/AMP deaminase domain | Domain | Domain |
IPR006329 | AMP deaminase | Family | Family |
IPR006650 | Adenosine/AMP deaminase active site | Site | Active site |
IPR029771 | AMP deaminase 3 | Family | Family |
IPR032466 | Metal-dependent hydrolase | Family | Homologous superfamily |
Diseases
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Disease ID | Source | Name | Description |
612874 | OMIM | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) | 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. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions