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AMPD1 Gene

protein-coding GIFtS: 65
GCID: GC01M115215

Adenosine Monophosphate Deaminase 1

(Previous name: adenosine monophosphate deaminase 1 (isoform M))

See AMPD1-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Adenosine Monophosphate Deaminase 1¹ ²		AMPD²
Adenosine Monophosphate Deaminase 1 (Isoform M)¹ ²		MAD²
Skeletal Muscle AMPD¹ ²		MADA²
Myoadenylate Deaminase² ³		Adenosine Monophosphate Deaminase-1 (Muscle)²
EC 3.5.4.6³ ⁸		AMP Deaminase 1²
MMDD² ⁵		AMP Deaminase Isoform M³
AMPD Isoform M¹

External Ids:	HGNC: 468¹	Entrez Gene: 270²	Ensembl: ENSG00000116748⁷	OMIM: 102770⁵	UniProtKB: P23109³

Export aliases for AMPD1 gene to outside databases

Previous GC identifers: GC01M115629 GC01M114097 GC01M114315 GC01M114514 GC01M114927 GC01M113074

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AMPD1 Gene:

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 isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a

common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human.

Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.(provided

by RefSeq, Feb 2010)

GeneCards Summary for AMPD1 Gene:

AMPD1 (adenosine monophosphate deaminase 1) is a protein-coding gene. Diseases associated with AMPD1 include myopathy due to myoadenylate deaminase deficiency, and adenosine monophosphate deaminase 1 deficiency. GO annotations related to this gene include AMP deaminase activity and myosin heavy chain binding. An important paralog of this gene is AMPD3.

UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109

Function: AMP deaminase plays a critical role in energy metabolism

Gene Wiki entry for AMPD1 (AMP deaminase) 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)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000001.10 NC_018912.2 NT_032977.10

Regulatory elements:

Regulatory transcription factor binding sites in the AMPD1 gene promoter:
HFH-3 Pbx1a MyoD E4BP4 FOXL1 FOXI1 FOXC1 STAT3 Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AMPD1 promoter sequence

Search Chromatin IP Primers for AMPD1

Epigenetics:

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

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13 Ensembl cytogenetic band: 1p13.2 HGNC cytogenetic band: 1p13

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

GeneLoc information about chromosome 1 GeneLoc Exon Structure

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

Start:	115,215,719 bp from pter	End:	115,238,239 bp from pter
Size:	22,521 bases	Orientation:	minus strand

(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.)
About This Section

UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109 (See protein sequence)

Recommended Name: AMP deaminase 1

Size: 780 amino acids; 90219 Da

Cofactor: Binds 1 zinc ion per subunit (By similarity)

Subunit: Homotetramer

Caution: It is uncertain whether Met-1 or Met-34 is the initiator

Sequence caution: Sequence=AAA57281.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAG24258.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAF84038.1;

Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG36918.1; Type=Erroneous

initiation; Note=Translation N-terminally extended; Sequence=CAI18828.1; Type=Erroneous initiation;

Note=Translation N-terminally extended;

Secondary accessions: A8K5N4 B2RAM1 F2Z3B3 Q5TF00 Q5TF02

Alternative splicing: 2 isoforms: P23109-1 P23109-2

Explore the universe of human proteins at neXtProt for AMPD1: NX_P23109

Explore proteomics data for AMPD1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

4 DME Specific Peptides for AMPD1 (P23109)

PHRDFYN

DADRVVY

RPHCGEAG

DNYINGEY

See AMPD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_000027.2 NP_001166097.1

ENSEMBL proteins:

ENSP00000430075 ENSP00000358551 ENSP00000316520

Reactome Protein details: P23109

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

3 InterPro protein domains:

IPR001365 A/AMP_deaminase_dom

IPR006329 AMP_deaminase

IPR006650 A/AMP_deam_AS

Graphical View of Domain Structure for InterPro Entry P23109

ProtoNet protein and cluster: P23109

1 Blocks protein domain: IPB006650 Adenosine/AMP deaminase active site

UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109

Similarity: Belongs to the adenosine and AMP deaminases family

Find genes that share domains with AMPD1 About GenesLikeMe

(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)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: AMPD1_HUMAN, P23109

Function: AMP deaminase plays a critical role in energy metabolism

Catalytic activity: AMP + H(2)O = IMP + NH(3)

Genatlas biochemistry entry for AMPD1:

adenosine monophosphate deaminase 1 (isoform M,skeletal muscle),adenine nucleotide catabolic pathway,purine

nucleotide cycle

Enzyme Number (IUBMB): EC 3.5.4.6¹ ²

Gene Ontology (GO): 4 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003876	AMP deaminase activity	IEA	--
GO:0019239	deaminase activity	--	--
GO:0032036	myosin heavy chain binding	IEA	--
GO:0046872	metal ion binding	IEA	--

Find genes that share ontologies with AMPD1 About GenesLikeMe

Phenotypes:
1 MGI phenotypic allele

for Ampd1 (no phenotypes)

Find genes that share phenotypes with AMPD1 About GenesLikeMe

Animal Models:

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

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In Situ Assay
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(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)
About This Section

Subcellular locations from COMPARTMENTS:

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

About this image

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--

Find genes that share ontologies with AMPD1 About GenesLikeMe

(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)
About This Section

SuperPaths for AMPD1 About

See pathways by source

Powered
by

SuperPath

Contained pathways About

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

Purine metabolism (KEGG)

Purine metabolism

0.38

ATP/ITP metabolism

0.31

Purine metabolism (REACTOME)

	Purine metabolism	0.42			Purine salvage	0.00
	Metabolism of nucleotides	0.42

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

Find genes that share SuperPaths with AMPD1 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

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

UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109

Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1

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)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATG16L1	Q676U5³	I2D: score=1
ATG5	Q9H1Y0³	I2D: score=1
GABARAP	O95166³	I2D: score=1
GABARAPL1	Q9H0R8³	I2D: score=1
KBTBD7	Q8WVZ9³	I2D: score=1

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006144	purine nucleobase metabolic process	TAS	--
GO:0006188	IMP biosynthetic process	--	--
GO:0010033	response to organic substance	IEA	--
GO:0032264	IMP salvage	IEA	--
GO:0043101	purine-containing compound salvage	TAS	--

Find genes that share ontologies with AMPD1 About GenesLikeMe

(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)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for AMPD1

5 HMDB Compounds for AMPD1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenosine monophosphate	5'-AMP (see all 28)	61-19-8	--
Ammonia	NH3 (see all 31)	7664-41-7	--
Inosinic acid	5'-IMP (see all 9)	131-99-7	--
Propranolol	Dociton (see all 8)	525-66-6	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

1 DrugBank Compound for AMPD1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Adenosine monophosphate	5'-Adenosine monophosphate (see all 15)	61-19-8	enzyme	substrate	16646524 16497164

9 Novoseek inferred chemical compound relationships for AMPD1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ampd	91.2	5	17463303 (2), 7802626 (2)
adenylate	64.1	16	16360962 (2), 1610923 (1), 10996775 (1), 17376785 (1) (see all 12)
inosine monophosphate	39.4	1	15793265 (1)
carnitine	32	2	2156480 (1), 9808277 (1)
lactate	22	2	2156480 (1), 11408438 (1)
methotrexate	21.7	4	17265507 (1), 19902562 (1), 17530705 (1), 16947783 (1)
atp	12.6	8	9730972 (3), 7802626 (2), 18224333 (1), 11408438 (1)
oxygen	0	1	17687759 (1)
glucose	0	5	17565237 (1), 18855224 (1)

1 PharmGKB related drug/compound annotation for AMPD1 gene About this table

Drug/compound	PharmGKB Annotation
methotrexate	CA

Find genes that share compounds with AMPD1 About GenesLikeMe

(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 )
About This Section

REFSEQ mRNAs for AMPD1 gene (2 alternative transcripts):

NM_000036.2 NM_001172626.1

Unigene Cluster for AMPD1:

Adenosine monophosphate deaminase 1

Hs.89570 [show with all ESTs]

Unigene Representative Sequence: NM_000036

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000520113 ENST00000369538(uc001efe.2 uc001eff.2) ENST00000485564

ENST00000353928

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Additional mRNA sequence:

AK097077.1 AK291349.1 AK314252.1 BC056678.1 M60092.1

3 DOTS entries:

DT.91872456 DT.411811 DT.91811224

Selected AceView cDNA sequences (see all 358):

BU155332 AI568738 W32722 CD365237 BX499618 AW072129 BM696482 BM794628

BX283953 AI051051 BM768440 AA086476 BM703033 AA346126 NM_005872 AA719669

BM760989 BP347512 BQ424395 AA740714 AI753082 NM_000036 BC063894 AI638838

GeneLoc Exon Structure

(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)
About This Section

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

AMPD1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

AMPD1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.89570

UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109

Tissue specificity: Three isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal

muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated

myoblasts; AMP deaminase 3 is found in erythrocytes

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In Situ
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(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)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for AMPD1 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ampd1^{1 , 5}	adenosine monophosphate deaminase 1^{1, 5}	88.23(n)¹ 93.02(a)¹		3 (45.25 cM)⁵ 229665¹ NM_001033303.2¹ NP_001028475.2¹ 103074014⁵
chicken (Gallus gallus)	Aves	AMPD1¹	adenosine monophosphate deaminase 1	74.08(n) 80.73(a)		772125 XM_003642728.2 XP_003642776.1
lizard (Anolis carolinensis)	Reptilia	AMPD1⁶	adenosine monophosphate deaminase 1	79(a)	1 ↔ 1	4(130353272-130371246)
tropical clawed frog (Xenopus tropicalis)	Amphibia	ampd1¹	adenosine monophosphate deaminase 1	70.6(n) 74.04(a)		100488507 XM_002935775.2 XP_002935821.2
zebrafish (Danio rerio)	Actinopterygii	BC063996.1²	--	77.46(n)		393867 BC063996.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	AMD1⁶	AMP deaminase, tetrameric enzyme that catalyzes th...	36(a)	1 → many	XIII(206428-208860) YML035C

ENSEMBL Gene Tree for AMPD1 (if available)
TreeFam Gene Tree for AMPD1 (if available)

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

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

(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)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs35859650^1,2,,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	--	--	--	--
rs121912682^1,2	C	pathogenic¹	115289052(-)	`GCCCCA/GCCTGT`	4	H R	mis¹		0	--	--	--	--
rs17602729^1,2	C,F,H	pathogenic¹	115305017(-)	`AGAAAC/TGTGAG`	3	Q *	int¹ stg¹		20		NA NS EA EU	7719
rs55967635^1,2		--	113083693(+)	`TTTTTC/TTGAGA`	2	--	int¹		0	--	--	--	--
rs12132598^1,2	C,F,A	--	113094261(+)	`aataaG/Ataagt`	2	--	int¹		2		NA	4
rs370838536^1,2	C	--	115217261(+)	`TGCTC-/ACTTGA`	2	--	int¹		0	--	--	--	--
rs72687865^1,2	C	--	115220420(+)	`TCTCCC/TTCCTT`	2	--	int¹		1		NA	2
rs59385008^1,2	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

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(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)
About This Section

OMIM gene information: 102770
OMIM disorders: 615511
UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109

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

myopathy due to myoadenylate deaminase deficiency adenosine monophosphate deaminase 1 deficiency barth syndrome congestive heart failure

myopathy

4 inferred disease relationships from the University of Copenhagen DISEASES database for AMPD1:

Glycogen storage disease Myopathy Barth syndrome Malignant hyperthermia

Find genes that share disorders with AMPD1 About GenesLikeMe

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

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mcardles disease	83.7	3	19232494 (1), 12666117 (1)
myopathy	67	7	11102975 (2), 8486786 (1), 11408438 (1), 19258857 (1) (see all 5)
rhabdomyolysis	61.8	1	1440976 (1)
neuromuscular diseases	53.5	1	15368811 (1)
enzyme deficiency	41.4	1	9760316 (1)
heart failure	39	15	14499869 (3), 15239633 (2), 11028479 (1), 12448564 (1) (see all 9)
heart failure congestive	38.9	12	16996850 (3), 15135700 (2), 17452135 (1), 17452134 (1) (see all 7)
coronary artery disease	30	6	11028479 (1), 17376785 (1), 16875916 (1), 15882662 (1) (see all 5)
cardiovascular diseases	7.15	3	17378808 (1), 18855224 (1)
rheumatoid arthritis	6.78	1	17265507 (1)

Genatlas disease: AMPD1

myopathy,exercise-related

Genetic Association Database (GAD): AMPD1
Human Genome Epidemiology (HuGE) Navigator: AMPD1 (39 documents)

Export disorders for AMPD1 gene to outside databases

(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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PubMed articles for AMPD1 gene, integrated from 10 sources (see all 127):
(articles sorted by number of sources associating them with AMPD1)

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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)
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)
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)
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)
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)
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)
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)
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)
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)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 270	HGNC: 468	AceView: AMPD1andBCAS2andFLJ37099	Ensembl:ENSG00000116748	euGenes: HUgn270
ECgene: AMPD1	Kegg: 270	H-InvDB: AMPD1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for AMPD1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AMPD1[genesymbol]

Intellectual Property for AMPD1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for AMPD1 gene:
Search GeneIP for patents involving AMPD1

GeneCards and IP:
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AMPD1 Gene

Adenosine Monophosphate Deaminase 1

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AMPD1 Gene

Adenosine Monophosphate Deaminase 1

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