InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: APRT

Summary

InnateDB Protein

IDBP-46739.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

APRT

Protein Name

adenine phosphoribosyltransferase

Synonyms

AMP; APRTD;

Species

Homo sapiens

Ensembl Protein

ENSP00000367615

InnateDB Gene

IDBG-46737 (APRT)

Protein Structure

UniProt Annotation

Function

Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.

Subcellular Localization

Cytoplasm.

Disease Associations

Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. {ECO:0000269PubMed:11243733, ECO:0000269PubMed:1353080, ECO:0000269PubMed:15571218, ECO:0000269PubMed:1746557, ECO:0000269PubMed:21635362, ECO:0000269PubMed:3343350, ECO:0000269PubMed:3680503, ECO:0000269PubMed:7915931}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.

Experimentally validated
Total	16 [view]
Protein-Protein	16 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002055	adenine binding
GO:0003999	adenine phosphoribosyltransferase activity
GO:0016208	AMP binding

Biological Process

GO:0006144	purine nucleobase metabolic process
GO:0006166	purine ribonucleoside salvage
GO:0006168	adenine salvage
GO:0007595	lactation
GO:0007625	grooming behavior
GO:0009116	nucleoside metabolic process
GO:0032869	cellular response to insulin stimulus
GO:0043101	purine-containing compound salvage
GO:0044209	AMP salvage
GO:0044281	small molecule metabolic process
GO:0055086	nucleobase-containing small molecule metabolic process