GenTIGS

Adenine phosphoribosyltransferase (APRT) Associated conditions: 1. Adenine phosphoribosyltransferase deficiency

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000485.3	NP_000476.1	NC_000016.10	(88809338..88811927, complement)	Reference GRCh38.p14 Primary Assembly	P07741
2	REVIEWED	NM_001030018.2	NP_001025189.1	NC_000016.10	(88809338..88811927, complement)	Reference GRCh38.p14 Primary Assembly	P07741

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1111 reference articles

Variant Information Adenine phosphoribosyltransferase (APRT) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Adenine phosphoribosyltransferase (APRT)

ClinVar variants:Revealing mutagenic patterns

GO Term of Adenine phosphoribosyltransferase (APRT)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	enables	adenine binding	Function	21873635
2	Homo sapiens	IBA	enables	adenine phosphoribosyltransferase activity	Function	21873635
3	Homo sapiens	IDA	enables	adenine phosphoribosyltransferase activity	Function	15196008
4	Homo sapiens	IPI	enables	protein binding	Function	32296183 32814053
5	Homo sapiens	TAS	located_in	extracellular region	Component	-
6	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
7	Homo sapiens	IBA	is_active_in	cytoplasm	Component	21873635
8	Homo sapiens	TAS	located_in	cytoplasm	Component	16130169
9	Homo sapiens	IDA	located_in	cytosol	Component	-
10	Homo sapiens	TAS	located_in	cytosol	Component	-
11	Homo sapiens	IEA	involved_in	purine ribonucleoside salvage	Process	-
12	Homo sapiens	IBA	involved_in	adenine salvage	Process	21873635
13	Homo sapiens	IEA	involved_in	grooming behavior	Process	-
14	Homo sapiens	IBA	enables	AMP binding	Function	21873635
15	Homo sapiens	IDA	enables	AMP binding	Function	15196008
16	Homo sapiens	IEA	involved_in	GMP salvage	Process	-
17	Homo sapiens	IEA	involved_in	IMP salvage	Process	-
18	Homo sapiens	TAS	located_in	secretory granule lumen	Component	-
19	Homo sapiens	IBA	involved_in	AMP salvage	Process	21873635
20	Homo sapiens	IEA	involved_in	AMP salvage	Process	-
21	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867 20458337 23533145