Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	353
Gene name	Adenine phosphoribosyltransferase
Gene symbol	APRT
Synonyms (NCBI Gene)	AMPAPRTD
Chromosome	16
Chromosome location	16q24.3
Summary	Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from ade

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28999113	A>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs104894506	T>A	Pathogenic	Coding sequence variant, missense variant
rs104894507	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894508	A>G	Pathogenic	Coding sequence variant, missense variant
rs281860263	->A	Pathogenic	Splice donor variant
rs281860265	->TCGG	Pathogenic	Frameshift variant, coding sequence variant
rs281860266	C>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs745594160	->A	Pathogenic	Splice donor variant

138

Show/Hide all (138)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032354	hsa-let-7b-5p	Proteomics	18668040
MIRT047618	hsa-miR-10a-5p	CLASH	23622248
MIRT046502	hsa-miR-15b-5p	CLASH	23622248
MIRT042963	hsa-miR-324-3p	CLASH	23622248
MIRT042286	hsa-miR-484	CLASH	23622248
MIRT791303	hsa-miR-1271	CLIP-seq
MIRT791304	hsa-miR-182	CLIP-seq
MIRT791305	hsa-miR-3153	CLIP-seq
MIRT791306	hsa-miR-3189-5p	CLIP-seq
MIRT791307	hsa-miR-320a	CLIP-seq
MIRT791308	hsa-miR-320b	CLIP-seq
MIRT791309	hsa-miR-320c	CLIP-seq
MIRT791310	hsa-miR-320d	CLIP-seq
MIRT791311	hsa-miR-3940-5p	CLIP-seq
MIRT791312	hsa-miR-4429	CLIP-seq
MIRT791313	hsa-miR-4507	CLIP-seq
MIRT791314	hsa-miR-4648	CLIP-seq
MIRT791315	hsa-miR-4654	CLIP-seq
MIRT791316	hsa-miR-4668-5p	CLIP-seq
MIRT791317	hsa-miR-4713-5p	CLIP-seq
MIRT791318	hsa-miR-4758-3p	CLIP-seq
MIRT791319	hsa-miR-4769-5p	CLIP-seq
MIRT791320	hsa-miR-494	CLIP-seq
MIRT791321	hsa-miR-96	CLIP-seq
MIRT791322	hsa-miR-1291	CLIP-seq
MIRT791323	hsa-miR-146b-3p	CLIP-seq
MIRT791324	hsa-miR-3192	CLIP-seq
MIRT791325	hsa-miR-3689a-3p	CLIP-seq
MIRT791326	hsa-miR-3689c	CLIP-seq
MIRT791327	hsa-miR-4492	CLIP-seq
MIRT791328	hsa-miR-4498	CLIP-seq
MIRT791329	hsa-miR-4505	CLIP-seq
MIRT791330	hsa-miR-4728-5p	CLIP-seq
MIRT791331	hsa-miR-762	CLIP-seq
MIRT1933418	hsa-miR-1207-3p	CLIP-seq
MIRT1933419	hsa-miR-1270	CLIP-seq
MIRT1933420	hsa-miR-3135b	CLIP-seq
MIRT1933421	hsa-miR-3145-3p	CLIP-seq
MIRT1933422	hsa-miR-331-3p	CLIP-seq
MIRT1933423	hsa-miR-3929	CLIP-seq
MIRT1933424	hsa-miR-4267	CLIP-seq
MIRT1933425	hsa-miR-4418	CLIP-seq
MIRT1933426	hsa-miR-4419b	CLIP-seq
MIRT1933427	hsa-miR-4478	CLIP-seq
MIRT1933428	hsa-miR-450b-3p	CLIP-seq
MIRT1933429	hsa-miR-4683	CLIP-seq
MIRT1933430	hsa-miR-4713-3p	CLIP-seq
MIRT1933431	hsa-miR-4749-3p	CLIP-seq
MIRT1933432	hsa-miR-4781-3p	CLIP-seq
MIRT1933433	hsa-miR-509-3-5p	CLIP-seq
MIRT1933434	hsa-miR-509-5p	CLIP-seq
MIRT1933435	hsa-miR-620	CLIP-seq
MIRT1933436	hsa-miR-638	CLIP-seq
MIRT1933437	hsa-miR-769-3p	CLIP-seq
MIRT1933418	hsa-miR-1207-3p	CLIP-seq
MIRT1933419	hsa-miR-1270	CLIP-seq
MIRT1933420	hsa-miR-3135b	CLIP-seq
MIRT1933421	hsa-miR-3145-3p	CLIP-seq
MIRT1933423	hsa-miR-3929	CLIP-seq
MIRT1933424	hsa-miR-4267	CLIP-seq
MIRT2173536	hsa-miR-4292	CLIP-seq
MIRT2173537	hsa-miR-4308	CLIP-seq
MIRT1933425	hsa-miR-4418	CLIP-seq
MIRT1933426	hsa-miR-4419b	CLIP-seq
MIRT2173538	hsa-miR-4446-5p	CLIP-seq
MIRT1933427	hsa-miR-4478	CLIP-seq
MIRT1933428	hsa-miR-450b-3p	CLIP-seq
MIRT1933429	hsa-miR-4683	CLIP-seq
MIRT1933430	hsa-miR-4713-3p	CLIP-seq
MIRT2173539	hsa-miR-4755-5p	CLIP-seq
MIRT1933432	hsa-miR-4781-3p	CLIP-seq
MIRT1933433	hsa-miR-509-3-5p	CLIP-seq
MIRT1933434	hsa-miR-509-5p	CLIP-seq
MIRT1933435	hsa-miR-620	CLIP-seq
MIRT1933436	hsa-miR-638	CLIP-seq
MIRT2173540	hsa-miR-670	CLIP-seq
MIRT1933437	hsa-miR-769-3p	CLIP-seq
MIRT2477085	hsa-miR-1	CLIP-seq
MIRT791303	hsa-miR-1271	CLIP-seq
MIRT791304	hsa-miR-182	CLIP-seq
MIRT2477086	hsa-miR-206	CLIP-seq
MIRT1933421	hsa-miR-3145-3p	CLIP-seq
MIRT791306	hsa-miR-3189-5p	CLIP-seq
MIRT2477087	hsa-miR-3197	CLIP-seq
MIRT1933422	hsa-miR-331-3p	CLIP-seq
MIRT2477088	hsa-miR-339-5p	CLIP-seq
MIRT1933423	hsa-miR-3929	CLIP-seq
MIRT2477089	hsa-miR-4265	CLIP-seq
MIRT2173536	hsa-miR-4292	CLIP-seq
MIRT2477090	hsa-miR-4296	CLIP-seq
MIRT2173537	hsa-miR-4308	CLIP-seq
MIRT2477091	hsa-miR-4322	CLIP-seq
MIRT2477092	hsa-miR-4323	CLIP-seq
MIRT2477093	hsa-miR-4417	CLIP-seq
MIRT1933425	hsa-miR-4418	CLIP-seq
MIRT1933426	hsa-miR-4419b	CLIP-seq
MIRT2173538	hsa-miR-4446-5p	CLIP-seq
MIRT1933427	hsa-miR-4478	CLIP-seq
MIRT1933428	hsa-miR-450b-3p	CLIP-seq
MIRT1933430	hsa-miR-4713-3p	CLIP-seq
MIRT1933431	hsa-miR-4749-3p	CLIP-seq
MIRT2173539	hsa-miR-4755-5p	CLIP-seq
MIRT791318	hsa-miR-4758-3p	CLIP-seq
MIRT2477094	hsa-miR-4768-3p	CLIP-seq
MIRT1933433	hsa-miR-509-3-5p	CLIP-seq
MIRT1933434	hsa-miR-509-5p	CLIP-seq
MIRT2477095	hsa-miR-545	CLIP-seq
MIRT2477096	hsa-miR-613	CLIP-seq
MIRT1933436	hsa-miR-638	CLIP-seq
MIRT2477097	hsa-miR-665	CLIP-seq
MIRT2173540	hsa-miR-670	CLIP-seq
MIRT1933437	hsa-miR-769-3p	CLIP-seq
MIRT791321	hsa-miR-96	CLIP-seq
MIRT2477085	hsa-miR-1	CLIP-seq
MIRT791303	hsa-miR-1271	CLIP-seq
MIRT791304	hsa-miR-182	CLIP-seq
MIRT2477086	hsa-miR-206	CLIP-seq
MIRT791306	hsa-miR-3189-5p	CLIP-seq
MIRT2477087	hsa-miR-3197	CLIP-seq
MIRT1933422	hsa-miR-331-3p	CLIP-seq
MIRT2477088	hsa-miR-339-5p	CLIP-seq
MIRT2477089	hsa-miR-4265	CLIP-seq
MIRT2477090	hsa-miR-4296	CLIP-seq
MIRT2477091	hsa-miR-4322	CLIP-seq
MIRT2477092	hsa-miR-4323	CLIP-seq
MIRT2477093	hsa-miR-4417	CLIP-seq
MIRT1933425	hsa-miR-4418	CLIP-seq
MIRT1933431	hsa-miR-4749-3p	CLIP-seq
MIRT791318	hsa-miR-4758-3p	CLIP-seq
MIRT2477094	hsa-miR-4768-3p	CLIP-seq
MIRT791320	hsa-miR-494	CLIP-seq
MIRT1933433	hsa-miR-509-3-5p	CLIP-seq
MIRT1933434	hsa-miR-509-5p	CLIP-seq
MIRT2477095	hsa-miR-545	CLIP-seq
MIRT2477096	hsa-miR-613	CLIP-seq
MIRT2477097	hsa-miR-665	CLIP-seq
MIRT2173540	hsa-miR-670	CLIP-seq
MIRT791321	hsa-miR-96	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002055	Function	Adenine binding	IBA
GO:0002055	Function	Adenine binding	IEA
GO:0003999	Function	Adenine phosphoribosyltransferase activity	IBA
GO:0003999	Function	Adenine phosphoribosyltransferase activity	IDA	15196008
GO:0003999	Function	Adenine phosphoribosyltransferase activity	IEA
GO:0003999	Function	Adenine phosphoribosyltransferase activity	TAS	3531209
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006168	Process	Adenine salvage	IBA
GO:0006168	Process	Adenine salvage	IEA
GO:0007625	Process	Grooming behavior	IEA
GO:0016208	Function	AMP binding	IBA
GO:0016208	Function	AMP binding	IDA	15196008
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0032263	Process	GMP salvage	IEA
GO:0032264	Process	IMP salvage	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0044209	Process	AMP salvage	IBA
GO:0044209	Process	AMP salvage	IEA
GO:0046083	Process	Adenine metabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:1901363	Function	Heterocyclic compound binding	IEA

MIM	HGNC	e!Ensembl
102600	626	ENSG00000198931

P07741

Protein name

Adenine phosphoribosyltransferase (APRT) (EC 2.4.2.7)

Protein function

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

PDB

1ORE , 1ZN7 , 1ZN8 , 1ZN9 , 4X44 , 4X45 , 6FCH , 6FCI , 6FCL , 6FD4 , 6FD5 , 6FD6 , 6HGP , 6HGQ , 6HGR , 6HGS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00156	Pribosyltran	28 → 174	Phosphoribosyl transferase domain	Domain

Sequence

MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDY
IAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPG
QRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE

Sequence length

180

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Nucleotide metabolism		Neutrophil degranulation Purine salvage

103

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adenine phosphoribosyltransferase deficiency	Likely pathogenic; Pathogenic	rs1244097151, rs918734933, rs121912681, rs281860263, rs28999113, rs104894506, rs104894507, rs281860265, rs104894508, rs2508234634, rs387906584, rs281860266, rs1909032484, rs758634272, rs1165408563 View all (42 more)	RCV001785957 RCV005624649 RCV000019956 RCV000033907 RCV000033908 RCV000033903 RCV000033905 RCV000033904 RCV000019962 RCV000019963 RCV000019964 RCV000033909 RCV001269418 RCV001269417 RCV001269416 RCV001269415 RCV001269414 RCV001269463 RCV001269413 RCV001269462 RCV001269460 RCV001269459 RCV001269458 RCV001269457 RCV001269456 RCV001269454 RCV001269453 RCV001269452 RCV001269455 RCV001269451 RCV001269450 RCV001269449 RCV001269446 RCV001269435 RCV001269445 RCV001269444 RCV001269443 RCV001269442 RCV001269441 RCV001269439 RCV001269438 RCV001269437 RCV001269436 RCV001269434 RCV001269433 RCV001269432 RCV001269431 RCV001269430 RCV001269429 RCV001269428 RCV001269427 RCV001269426 RCV001269425 RCV001269424 RCV001269423 RCV001269422 RCV001269421 RCV001269420
APRT deficiency, Japanese type	Pathogenic	rs28999113	RCV000019958
See cases	Likely pathogenic; Pathogenic	rs121912681	RCV002251916

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
APRT-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs563575862, rs201579274, rs150156607, rs768425517	RCV004758166 RCV003926612 RCV003918700 RCV004758154
Clear cell carcinoma of kidney	Benign	rs201579274	RCV005926620
Ovarian serous cystadenocarcinoma	Benign	rs8191470	RCV005919623

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenine phosphoribosyltransferase deficiency	Associate	1609669, 1673292, 2502918, 33707627, 9255672
Adenine phosphoribosyltransferase deficiency	Inhibit	1746557
Alzheimer Disease	Associate	25311278
Asthma	Associate	34494468
Asthma Chronic Obstructive Pulmonary Disease Overlap Syndrome	Associate	34494468
Breast Neoplasms	Associate	35351580
Cardiomyopathy Hypertrophic	Associate	23997074
Chromosome Aberrations	Associate	36433728
Color Vision Defects	Associate	37689994
Colorectal Neoplasms	Associate	8887680
Glioblastoma	Associate	35757013
Gliosarcoma	Associate	35757013
Lesch Nyhan Syndrome	Associate	1155984
Leukemia T Cell	Associate	29084986
Lymphoma Large B Cell Diffuse	Associate	34806851
Multiple Myeloma	Associate	19687334, 36433728, 39234657
Neoplasms	Associate	29084986, 30104401, 33442665, 8887680
Status Asthmaticus	Inhibit	34494468

APRT (adenine phosphoribosyltransferase)