• Gene id: 353

Gene Summary

• Gene Symbol: APRT   Gene   UCSC   Ensembl
• Aliases: AMP, APRTD
• Gene name: adenine phosphoribosyltransferase
• Alternate names: adenine phosphoribosyltransferase, AMP diphosphorylase, AMP pyrophosphorylase, transphosphoribosidase,
• Gene location: 16q24.3 (88811927: 88809338)     Exons: 6     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 102600

SNPs

rs886039789

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.43615851C>G
NC_000005.10   g.43615851C>T
NC_000005.9   g.43615953C>G
NC_000005.9   g.43615953C>T
NG_032869.1   g.18163C>G
NG_032869.1   g.18163C>T
NM_182977.3   c.385C>G
NM_182977.3   c.385C>T
NM_182977.2   c.385C>G
NM_182977.2   c.385C>T
NM_012343.3   c.

Protein Summary

• Protein general information: P07741  
  • Name: Adenine phosphoribosyltransferase (APRT) (EC 2.4.2.7)
  • Length: 180  
  • Mass: 19608
• Sequence:

  MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSL
  AQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEV
  LECVSLVELTSLKGREKLAPVPFFSLLQYE

• Structural information:
  • Interpro: IPR005764  IPR000836  IPR029057  
  • Prosite: PS00103
  • CDD: cd06223
  • PDB: 1OPU 1ORE 1ZN7 1ZN8 1ZN9 4X44 4X45 6FCH 6FCI 6FCL 6FD4 6FD5 6FD6 6HGP 6HGQ 6HGR 6HGS
  • PDBsum: 1OPU 1ORE 1ZN7 1ZN8 1ZN9 4X44 4X45 6FCH 6FCI 6FCL 6FD4 6FD5 6FD6 6HGP 6HGQ 6HGR 6HGS
  • STRING: ENSP00000367615
• Other Databases: GeneCards:  APRT  Malacards:  APRT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044209	AMP salvage	IBA	biological process
GO:0002055	adenine binding	IBA	molecular function
GO:0003999	adenine phosphoribosyltransferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006168	adenine salvage	IBA	biological process
GO:0016208	AMP binding	IBA	molecular function
GO:0009116	nucleoside metabolic process	IEA	biological process
GO:0003999	adenine phosphoribosyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006168	adenine salvage	IEA	biological process
GO:0006166	purine ribonucleoside salvage	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003999	adenine phosphoribosyltransferase activity	TAS	molecular function
GO:0003999	adenine phosphoribosyltransferase activity	IEA	molecular function
GO:0016208	AMP binding	IDA	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0043101	purine-containing compound salvage	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0046083	adenine metabolic process	IEA	biological process
GO:0006166	purine ribonucleoside salvage	IEA	biological process
GO:0016208	AMP binding	IEA	molecular function
GO:0007625	grooming behavior	IEA	biological process
GO:0006168	adenine salvage	IEA	biological process
GO:0003999	adenine phosphoribosyltransferase activity	IEA	molecular function
GO:0002055	adenine binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0044209	AMP salvage	IEA	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Adenine phosphoribosyltransferase deficiency	KEGG:H00195
Adenine phosphoribosyltransferase deficiency	KEGG:H00195
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881