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	270
Gene name	Adenosine monophosphate deaminase 1
Gene symbol	AMPD1
Synonyms (NCBI Gene)	MADMADAMMDD
Chromosome	1
Chromosome location	1p13.2
Summary	Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isofor

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34526199	T>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs35859650	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs61752478	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121912682	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139582106	C>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140181682	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs150645738	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123114	AAGA>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1447749222	C>T	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051077	hsa-miR-16-5p	CLASH	23622248
MIRT047529	hsa-miR-10a-5p	CLASH	23622248

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003876	Function	AMP deaminase activity	IBA
GO:0003876	Function	AMP deaminase activity	IEA
GO:0003876	Function	AMP deaminase activity	IMP	11102975
GO:0003876	Function	AMP deaminase activity	ISS
GO:0003876	Function	AMP deaminase activity	TAS	644316
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006188	Process	IMP biosynthetic process	IBA
GO:0006753	Process	Nucleoside phosphate metabolic process	IEA
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009168	Process	Purine ribonucleoside monophosphate biosynthetic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019239	Function	Deaminase activity	IEA
GO:0032263	Process	GMP salvage	IDA	29079593
GO:0032264	Process	IMP salvage	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0046033	Process	AMP metabolic process	IBA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
102770	468	ENSG00000116748

P23109

Protein name

AMP deaminase 1 (EC 3.5.4.6) (AMP deaminase isoform M) (Myoadenylate deaminase)

Protein function

AMP deaminase plays a critical role in energy metabolism.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00962	A_deaminase	329 → 736	Adenosine/AMP deaminase	Domain

Sequence

MNVRIFYSVSQSPHSLLSLLFYCAILESRISATMPLFKLPAEEKQIDDAMRNFAEKVFAS
EVKDEGGRQEISPFDVDEICPISHHEMQAHIFHLETLSTSTEARRKKRFQGRKTVNLSIP
LSETSSTKLSHIDEYISSSPTYQTVPDFQRVQITGDYASGVTVEDFEIVCKGLYRALCIR
EKYMQKSFQRFPKTPSKYLRNIDGEAWVANESFYPVFTPPVKKGEDPFRTDNLPENLGYH
LKMKDGVVYVYPNEAAVSKDEPKPLPYPNLDTFLDDMNFLLALIAQGPVKTYTHRRLKFL
SSKFQVHQMLNEMDELKELKNNPHRDFYNCRKVDTHIHAAACMNQKHLLRFIKKSYQIDA
DRVVYSTKEKNLTLKELFAKLKMHPYDLTVDSLDVHAGRQTFQRFDKFNDKYNPVGASEL
RDLYLKTDNYINGEYFATIIKEVGADLVEAKYQHAEPRLSIYGRSPDEWSKLSSWFVCNR
IHCPNMTWMIQVPRIYDVFRSKNFLPHFGKMLENIFMPVFEATINPQADPELSVFLKHIT
GFDSVDDESKHSGHMFSSKSPKPQEWTLEKNPSYTYYAYYMYANIMVLNSLRKERGMNTF
LFRPHCGEAGALTHLMTAFMIADDISHGLNLKKSPVLQYLFFLAQIPIAMSPLSNNSLFL
EYAKNPFLDFLQKGLMISLSTDDPMQFHFTKEPLMEEYAIAAQVFKLSTCDMCEVARNSV
LQCGISHEEKVKFLGDNYLEEGPAGNDIRRTNVAQIRMAYRYETWCYELNLIAEGLKSTE

Sequence length

780

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Nucleotide metabolism Cytoskeleton in muscle cells		Purine salvage

457

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Muscle AMP deaminase deficiency	Likely pathogenic	rs1657881990	RCV001332120

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
AMPD1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign; other	rs145328844, rs570832252, rs139003085, rs375898522, rs141829342, rs982156348, rs61738827, rs61741025, rs145786786, rs140181682, rs765995365, rs374385585, rs17602729, rs61752479, rs61758863, rs34526199 View all (1 more)	RCV003956269 RCV003948730 RCV003408038 RCV003913631 RCV003895921 RCV003893118 RCV003917486 RCV003947513 RCV003920169 RCV003949964 RCV003921395 RCV003896829 RCV003974848 RCV003974929 RCV003928591 RCV003974954
Autism	Uncertain significance; Likely benign	rs587779369, rs587779370, rs587779371, rs587779372, rs587779373, rs587779374, rs587779375, rs542684385, rs572362619, rs587779376, rs587779377, rs587779378, rs587779379	RCV000143844 RCV000143845 RCV000143846 RCV000143847 RCV000143848 RCV000143849 RCV000143850 RCV000143851 RCV000143852 RCV000143853 RCV000143854 RCV000143855 RCV000143856
Gastric cancer	Uncertain significance	rs374144421	RCV005908954
Hypercholesterolemia, autosomal dominant, type B	Uncertain significance; Conflicting classifications of pathogenicity	rs866945097, rs34526199	RCV002464976 RCV002464104

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	37116150
Adenosine monophosphate deaminase deficiency	Associate	28751290, 29095874
Arthritis Rheumatoid	Associate	16947783
Cardiovascular Diseases	Associate	21108053
Colitis Ulcerative	Associate	33323040
Colorectal Neoplasms	Associate	35093172
Coronary Artery Disease	Associate	11028479, 17376785, 21108053
Cystic Fibrosis	Associate	27572404
Death	Associate	11028479
Diabetes Mellitus	Associate	21108053
Essential Hypertension	Associate	27323204
Heart Failure	Associate	11028479, 21108053, 29095874
Hyperglycemia	Associate	21108053
Hypertension	Associate	27323204
Ischemia	Associate	17376785
Obesity	Associate	21108053
Obesity Abdominal	Associate	21108053
Parkinson Disease	Associate	40240887
Severe combined immunodeficiency due to adenosine deaminase deficiency	Inhibit	1631143
Severe combined immunodeficiency due to adenosine deaminase deficiency	Associate	1631143, 17463303
Soft Tissue Injuries	Associate	17376785

AMPD1 (adenosine monophosphate deaminase 1)