Search results for APRT

Showing 16 results out of 17

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Types

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Protein (5 results from a total of 6)

Identifier: R-HSA-50171
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: APRT: P07741
Identifier: R-HSA-6801079
Species: Homo sapiens
Compartment: secretory granule lumen
Primary external reference: UniProt: APRT: P07741
Identifier: R-HSA-6806528
Species: Homo sapiens
Compartment: extracellular region
Primary external reference: UniProt: APRT: P07741
Identifier: R-HSA-9734183
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: APRT: P07741
Identifier: R-HSA-9734184
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: APRT: P07741

Complex (4 results from a total of 4)

Identifier: R-HSA-74211
Species: Homo sapiens
Compartment: cytosol
Identifier: R-HSA-9734196
Species: Homo sapiens
Compartment: cytosol
Identifier: R-HSA-9734179
Species: Homo sapiens
Compartment: cytosol
Identifier: R-HSA-9734186
Species: Homo sapiens
Compartment: cytosol

Set (1 results from a total of 1)

Identifier: R-HSA-9734185
Species: Homo sapiens
Compartment: cytosol

Pathway (3 results from a total of 3)

Identifier: R-HSA-9734195
Species: Homo sapiens
Compartment: cytosol
Normally in humans, adenine formed in processes such as polyamine biosynthesis can be salvaged by conversion to AMP, catalyzed by APRT (adenine phosphoribosyltransferase). In the absence of APRT activity, however, accumulated adenine is instead converted to 2,8-dioxo-adenine. Accumulation of insoluble crystals of 2,8-dioxo-adenine in the kidneys causes the kidney damage that is a major symptom of APRT deficiency in humans (Van Acker et al. 1977; Bollée et al. 2012).
Identifier: R-HSA-9735804
Species: Homo sapiens
Compartment: cytosol
Metabolic reactions disrupted by deficiencies of ADA, APRT, HPRT1, and PNP are annotated here.
Identifier: R-HSA-9734207
Species: Homo sapiens
Compartment: cytosol
Defects in APRT and HGPRT lead to synthesis of 2,8-dioxo-adenine and overproduction of uric acid, respectively, associated with kidney damage and other symptoms (Bollée et al. 2012; Fu & Jinnah 2012). Defects in ADA lead to accumulation of (deoxy)adenosine and consequent severe combined immunodeficiency (Akeson et al. 1988).

Reaction (2 results from a total of 2)

Identifier: R-HSA-74213
Species: Homo sapiens
Compartment: cytosol
Cytosolic APRT dimer catalyzes the reaction of adenine and 5-phospho-alpha-D-ribose 1-diphosphate to form AMP and pyrophosphate (Holden et al. 1979; Silva et al. 2008).
Identifier: R-HSA-9734193
Species: Homo sapiens
Compartment: cytosol
Normally in humans, adenine generated in processes such as polyamine biosynthesisis can be salvaged by conversion to AMP, catalyzed by APRT (adenine phosphoribosyltransferase). In the absence of APRT activity, however, accumulated adenine is instead converted to 2,8-dioxo-adenine. Accumulation of insoluble crystals of 2,8-dioxo-adenine in the kidneys causes the kidney damage that is a major symptom of APRT deficiency in humans (Van Acker et al. 1977; Bollée et al. 2012). Three missense mutant alleles are annotated here (Chen et al. 1991; Hidaka et al. 1988; Sahota et al. 1994); nonsense, insertion-deletion, and splice-site mutations have also been reported (reviewed by Bollée et al. 2012).

Icon (1 results from a total of 1)

Species: Homo sapiens
Adenine phosphoribosyltransferase.
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