AMPD1 Gene

Aliases
for AMPD1 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC01M115629 GC01M114097 GC01M114315 GC01M114514 GC01M114927 GC01M113074

Summaries
for AMPD1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for AMPD1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000001.10  NC_018912.2  NT_032977.10  

SwitchGear Promoter luciferase reporter plasmid: AMPD1 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AMPD1

AMPD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M115215:  view genomic region     (about GC identifiers)

Proteins
for AMPD1 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for AMPD1: NX_P23109

Explore proteomics data for AMPD1 at MOPED

Post-translational modifications: 

AMPD1 Human Recombinant Protein Products:

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Domains /
Families
for AMPD1 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P23109

Find genes that share domains with AMPD1           About GenesLikeMe

Function
for AMPD1 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 4 molecular function terms:    About this table

genOway: Develop your customized and physiologically relevant rodent model for AMPD1

miRNA Products:		miRTarBase miRNAs that target AMPD1: hsa-mir-16-5p (MIRT051077), hsa-mir-10a-5p (MIRT047529)
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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for AMPD1

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPD1

Localization
for AMPD1 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytosol	4
mitochondrion	2
nucleus	2
cytoskeleton	1
plasma membrane	1

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Gene Ontology (GO): 1 cellular component term:    About this table

Pathways & Interactions
for AMPD1 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for AMPD1 About     See pathways by source

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	SuperPath	Contained pathways About
1	Metabolism	Metabolism 0.38 Metabolic pathways 0.38
2	Purine metabolism (KEGG)	Purine metabolism 0.38 ATP/ITP metabolism 0.31
3	Purine metabolism (REACTOME)	Purine metabolism 0.42 Purine salvage 0.00 Metabolism of nucleotides 0.42
4	Immune response Function of MEF2 in T lymphocytes	Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis 0.36

2 GeneGo (Thomson Reuters) Pathways for AMPD1

	Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
	ATP/ITP metabolism

1 Reactome Pathway for AMPD1

Purine salvage

2 Kegg Pathways  (Kegg details for AMPD1)

	Purine metabolism
	Metabolic pathways

    Custom Pathway & Disease-focused RT² Profiler PCR Arrays for AMPD1
Interactions:

    Search GeneGlobe Interaction Network for AMPD1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for AMPD1 (P23109³ ENSP00000316520⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 68)

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

Drugs & Compounds
for AMPD1 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for AMPD1 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for AMPD1 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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AMPD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCCTATCGCT

About this image

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for AMPD1
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		QuantiFast Probe-based Assays in human, mouse, rat AMPD1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPD1

Orthologs
for AMPD1 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for AMPD1 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for AMPD1 gene

AMPD3²  AMPD2²  

2 SIMAP similar genes for AMPD1 using alignment to 11 protein entries:     AMPD1_HUMAN (see all proteins):

AMPD3    AMPD2

Find genes that share paralogs with AMPD1           About GenesLikeMe

Genomic Variants
for AMPD1 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for AMPD1 (see all 598)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs358596501,2,,4	C,F	Myopathy due to myoadenylate deaminase deficiency (MMDD)4 pathogenic1	115289559(+)	GTCCCG/ATAGCT	4	/R /W	mis1		4		NA	4598
VAR_0132724		Myopathy due to myoadenylate deaminase deficiency (MMDD)4	--	see VAR_013272	2	R H	mis4		0	--	--	--	--
VAR_0358014		A colorectal cancer sample4	--	see VAR_035801	2	P H	mis4		0	--	--	--	--
rs1219126821,2	C	pathogenic1	115289052(-)	GCCCCA/GCCTGT	4	H R	mis1		0	--	--	--	--
rs176027291,2	C,F,H	pathogenic1	115305017(-)	AGAAAC/TGTGAG	3	Q *	int1 stg1		20		NA NS EA EU	7719
rs559676351,2		--	113083693(+)	TTTTTC/TTGAGA	2	--	int1		0	--	--	--	--
rs121325981,2	C,F,A	--	113094261(+)	aataaG/Ataagt	2	--	int1		2		NA	4
rs3708385361,2	C	--	115217261(+)	TGCTC-/ACTTGA	2	--	int1		0	--	--	--	--
rs726878651,2	C	--	115220420(+)	TCTCCC/TTCCTT	2	--	int1		1		NA	2
rs593850081,2	C	--	115224215(+)	ATCTC-/AAAAAA	2	--	int1		1		NA	2

HapMap Linkage Disequilibrium report for AMPD1 (115215719 - 115238239 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for AMPD1:    About this table    

Variant ID	Type	Subtype	PubMed ID
esv28734	CNV	Loss	19812545

Human Gene Mutation Database (HGMD): AMPD1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing AMPD1

DNA2.0 Custom Variant and Variant Library Synthesis for AMPD1

Disorders / Diseases
for AMPD1 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]: A metabolic disorder resulting in

exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue.

Note=The disease is caused by mutations affecting the gene represented in this entry

5 diseases for AMPD1:    
About MalaCards

Selected Novoseek inferred disease relationships for AMPD1 gene (see all 12)    About this table

Publications
for AMPD1 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome). (PubMed id 15135700)^{1, 4, 9} Gastmann A....Figulla H.R. (Am. J. Cardiol. 2004)
2. AMPD1 (C34T) polymorphism and clinical outcomes in patients undergoing myocardial revascularization. (PubMed id 15882662)^{1, 4, 9} Andreassi M.G....Picano E. (Int. J. Cardiol. 2005)
3. First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. (PubMed id 11102975)^{1, 2, 9} Morisaki H.... Morisaki T. (Hum. Mutat. 2000)
4. The impact of the AMPD1 gene polymorphism on exercise capacity, other prognostic parameters, and survival in patients with stable congestive heart failure: a study in 686 consecutive patients. (PubMed id 16996850)^{1, 4, 9} de Groote P....Bauters C. (Am. Heart J. 2006)
5. Variation in the gene for muscle-specific AMP deaminase is associated with insulin clearance, a highly heritable trait. (PubMed id 15793265)^{1, 4, 9} Goodarzi M.O....Rotter J.I. (Diabetes 2005)
6. A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease. (PubMed id 11028479)^{1, 4, 9} Anderson J.L....Hart N. (J. Am. Coll. Cardiol. 2000)
7. Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure. (PubMed id 18855224)^{1, 4, 9} Safranow K....Chlubek D. (Scand. J. Clin. Lab. Invest. 2009)
8. Association between AMPD1 gene polymorphism and coagulation factors in patients with coronary heart disease. (PubMed id 17565237)^{1, 4, 9} Agewall S. and Norman B. (Pathophysiol. Haemost. Thromb. 2006)
9. Does the C34T mutation in AMPD1 alter exercise capacity in the elderly? (PubMed id 16767606)^{1, 4, 9} PAcrez M....Lucia A. (Int J Sports Med 2006)
10. Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance? (PubMed id 15677729)^{1, 4, 9} Rubio J.C....Lucia A. (J. Appl. Physiol. 2005)

External Searches for AMPD1 gene

Genome Databases showing AMPD1 gene

Other Databases showing AMPD1 gene

Specialized Databases showing AMPD1 gene

Products
for AMPD1 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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