• Gene id: 272

Gene Summary

• Gene Symbol: AMPD3   Gene   UCSC   Ensembl
• Gene name: adenosine monophosphate deaminase 3
• Alternate names: AMP deaminase 3, AMP aminohydrolase, adenosine monophosphate deaminase (isoform E), erythrocyte AMP deaminase, erythrocyte type AMP deaminase, erythrocyte-specific AMP deaminase, myoadenylate deaminase,
• Gene location: 11p15.4 (10450320: 10507578)     Exons: 19     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway.
• OMIM: 607747

SNPs

rs4919686

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

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

Protein Summary

• Protein general information: Q01432  
  • Name: AMP deaminase 3 (EC 3.5.4.6) (AMP deaminase isoform E) (Erythrocyte AMP deaminase)
  • Length: 767  
  • Mass: 88812
• Sequence:

  MPRQFPKLNISEVDEQVRLLAEKVFAKVLREEDSKDALSLFTVPEDCPIGQKEAKERELQKELAEQKSVETAKRK
  KSFKMIRSQSLSLQMPPQQDWKGPPAASPAMSPTTPVVTGATSLPTPAPYAMPEFQRVTISGDYCAGITLEDYEQ
  AAKSLAKALMIREKYARLAYHRFPRITSQYLGHPRADTAPPEEGLPDFHPPPLPQEDPYCLDDAPPNLDYLVHMQ
  GGILFVYDNKKMLEHQEPHSLPYPDLETYTVDMSHILALITDGPTKTYCHRRLNFLESKFSLHEMLNEMSEFKEL
  KSNPHRDFYNVRKVDTHIHAAACMNQKHLLRFIKHTYQTEPDRTVAEKRGRKITLRQVFDGLHMDPYDLTVDSLD
  VHAGRQTFHRFDKFNSKYNPVGASELRDLYLKTENYLGGEYFARMVKEVARELEESKYQYSEPRLSIYGRSPEEW
  PNLAYWFIQHKVYSPNMRWIIQVPRIYDIFRSKKLLPNFGKMLENIFLPLFKATINPQDHRELHLFLKYVTGFDS
  VDDESKHSDHMFSDKSPNPDVWTSEQNPPYSYYLYYMYANIMVLNNLRRERGLSTFLFRPHCGEAGSITHLVSAF
  LTADNISHGLLLKKSPVLQYLYYLAQIPIAMSPLSNNSLFLEYSKNPLREFLHKGLHVSLSTDDPMQFHYTKEAL
  MEEYAIAAQVWKLSTCDLCEIARNSVLQSGLSHQEKQKFLGQNYYKEGPEGNDIRKTNVAQIRMAFRYETLCNEL
  SFLSDAMKSEEITALTN

• Structural information:
  • Interpro: IPR006650  IPR001365  IPR006329  IPR029771  IPR032466  
  • Prosite: PS00485
  • CDD: cd01319
  • STRING: ENSP00000379802
• Other Databases: GeneCards:  AMPD3  Malacards:  AMPD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046033	AMP metabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0003876	AMP deaminase activity	IBA	molecular function
GO:0006188	IMP biosynthetic process	IBA	biological process
GO:0003876	AMP deaminase activity	IEA	molecular function
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0019239	deaminase activity	IEA	molecular function
GO:0032264	IMP salvage	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0009117	nucleotide metabolic process	IEA	biological process
GO:0003876	AMP deaminase activity	TAS	molecular function
GO:0006196	AMP catabolic process	TAS	biological process
GO:0003876	AMP deaminase activity	IEA	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
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:0003876	AMP deaminase activity	IEA	molecular function
GO:0034101	erythrocyte homeostasis	IEA	biological process
GO:0046033	AMP metabolic process	IEA	biological process
GO:0046034	ATP metabolic process	IEA	biological process
GO:0006188	IMP biosynthetic process	IEA	biological process
GO:0046031	ADP metabolic process	IEA	biological process
GO:0046039	GTP metabolic process	IEA	biological process
GO:0097009	energy homeostasis	IEA	biological process
GO:0032264	IMP salvage	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

Associated diseases	References
AMP deaminase deficiency	KEGG:H02237
AMP deaminase deficiency	KEGG:H02237
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq