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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AMPD1 Gene

protein-coding GIFtS: 67
GCID: GC01M115215

adenosine monophosphate deaminase 1

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

Explore 28 diseases affiliated with
AMPD1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Adenosine Monophosphate Deaminase 1¹ ²		AMPD²
MAD¹ ²		Adenosine Monophosphate Deaminase-1 (Muscle)²
MADA¹ ²		AMP Deaminase 1²
Adenosine Monophosphate Deaminase 1 (Isoform M)¹ ²		Skeletal Muscle AMPD²
Myoadenylate Deaminase² ³		AMP Deaminase Isoform M³
EC 3.5.4.6³ ⁸

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

Entrez Gene summary for AMPD1:

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)

UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109

Function: AMP deaminase plays a critical role in energy metabolism

Gene Wiki entry for AMPD1 (AMP deaminase)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for AMPD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P23109

4 DME Specific Peptides for AMPD1 (P23109)

PHRDFYN

DADRVVY

RPHCGEAG

DNYINGEY

AMPD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000027.2 NP_001166097.1

ENSEMBL proteins:

ENSP00000430075 ENSP00000358551 ENSP00000431694 ENSP00000316520

Reactome Protein details: P23109
Human Recombinant Protein Products:

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	Novus Biologicals AMPD1 Protein Novus Biologicals AMPD1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for AMPD1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

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

AMPD1 for ontologies About GeneDecksing

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	GenScript Custom Assay Services for AMPD1
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	Uscn ELISAs and CLIAs for AMPD1

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

AMPD1 for domains About GeneDecksing

3 InterPro domains/families:

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 family: IPB006650 Adenosine/AMP deaminase active site

UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109

Similarity: Belongs to the adenosine and AMP deaminases family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 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

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		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AMPD1 (see all 7) OriGene shRNA RFP: AMPD1 OriGene siRNA: AMPD1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMPD1

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

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

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

AMPD1 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Purine metabolism

	Purine metabolism	1.00			Purine salvage	0.39
	Metabolism of nucleotides	0.42

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

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

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

1.00

Development_Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis

0.97

ATP/ITP metabolism

ATP/ITP metabolism

1.00

ATP/ITP metabolism

0.98

Purine metabolism

Purine metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for AMPD1

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

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

4 Reactome Pathways for AMPD1

	Metabolism of nucleotides
	Metabolism
	Purine salvage
	Purine metabolism

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

AMPD1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for AMPD1

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

5/63 Interacting proteins for AMPD1 (P23109³ ENSP00000316520⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 63)

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): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006144	purine nucleobase metabolic process	TAS	--
GO:0010033	response to organic substance	IEA	--
GO:0032264	IMP salvage	IEA	--
GO:0043101	purine-containing compound salvage	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

AMPD1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AMPD1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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 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

Drug/compound	PharmGKB Annotation
methotrexate	CA

About this table

Search CenterWatch for drugs/clinical trials and news about AMPD1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
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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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AMPD1
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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AMPD1 (see all 7) OriGene shRNA RFP: AMPD1 OriGene siRNA: AMPD1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMPD1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AMPD1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AMPD1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMPD1

Additional cDNA sequence:

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

3 DOTS entries:

DT.91872456 DT.411811 DT.91811224

24/358 AceView cDNA sequences (see all 358):

CD678348 M60092 BU686596 BM475574 BM725933 BU155332 F32963 NM_005872

BQ424395 CD365237 AA351970 BQ938544 BG030450 AA086476 AI015700 AI357317

AW849664 W32722 AW138855 AI051051 BM768440 BM760989 BM805502 BE671544

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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, 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
CGAP TAG: GCCTATCGCT

About this image

AMPD1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Interscapular Brown Adipose Depot

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See AMPD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AMPD1

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

SABiosciences Custom PCR Arrays for AMPD1

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		QIAGEN 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 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 eukaryotes.

Orthologs for AMPD1 gene from 6/22 species (see all 22) 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 (isoform M)	74.08(n) 80.73(a)		772125 XM_003642728.1 XP_003642776.1
lizard (Anolis carolinensis)	Reptilia	AMPD1⁶	--	78(a)	1 ↔ 1	4(130353636-130365521)
zebrafish (Danio rerio)	Actinopterygii	BC063996.1²	--	77.46(n)		393867 BC063996.1
thale cress (Arabidopsis thaliana)	eudicotyledons	FAC1⁶	AMP deaminase	35(a)	1 → many	2(16033448-16038876)
rice (Oryza sativa)	Liliopsida	-- --	AMP deaminase, putative, expressed	51(a) 38(a)	many ↔ many many ↔ many	5(16420105-16428026) 7(29504015-29512215)

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)
About This Section

Paralogs for AMPD1 gene

AMPD3² AMPD2²

2 SIMAP similar genes for AMPD1 using alignment to 12 protein entries: AMPD1_HUMAN (see all proteins):

AMPD3 AMPD2

AMPD1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs17602729^1,2	C,F,H,	untested	113094533(-)	`AGAAAA/C/G/T GTGAG`	5	K Q E *	mis¹ stg¹ int¹		20	NA NS EA EU	7719
rs6697757^1,2	C	--	113074126(+)	`CTTTCC/ATTGGT`	2	--	ds500¹		1	NA	2
rs111657846^1,2	C,	--	113074963(+)	`TGGACG/AGGAAA`	2	--	int¹		3	CSA WA NA	240
rs34287100^1,2	C,F,	--	113075043(+)	`GGGTCA/GTCTGT`	4	D	syn¹		2	NA	4584
rs34778674^1,2	C,F,	--	113075079(+)	`TGAAGG/AAAATC`	4	/F	syn¹		2	NA	4588
rs34257411^1,2	C,F,	--	113075145(+)	`ATGGCG/AATGGG`	4	/I	syn¹		2	NA	4524
rs6701394^1,2	C,F,	--	113075289(+)	`TTCAAC/AAAAAT`	2	--	int¹		1	WA	118
rs74113507^1,2	C,F,	--	113075455(+)	`TCTGTC/TTCAGG`	2	--	int¹		5	WA NA EA	362
rs77981973^1,2	F,	--	113075634(+)	`AAGTCA/GGGAGA`	2	--	int¹		1	NA	120
rs11102831^1,2	C,F,H,	--	113076305(+)	`AAACTC/TCAGTA`	2	--	int¹		14	NS EA WA NA CSA	1212

HapMap Linkage Disequilibrium report for AMPD1 (115215719 - 115238239 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for AMPD1
3 CNVs: 2322 3306 64651
Human Gene Mutation Database (HGMD): AMPD1

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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.)
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AMPD1 for disorders About GeneDecksing

OMIM gene information: 102770 OMIM disorders: --

UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109

Defects in AMPD1 are the cause of adenosine monophosphate deaminase deficiency muscle type (AMPDDM)

[MIM:102770]. AMPDDM is a metabolic disorder resulting in exercise-related myopathy. It is characterized by

exercise-induced muscle aches, cramps, and early fatigue

20/28 diseases for AMPD1 (see all 28): About MalaCards

adenosine monophosphate deaminase deficiency myopathy myoadenylate deaminase deficiency glycogen storage disease v

glycogen storage disease congestive heart failure neuromuscular disease barth syndrome

coronary heart disease rheumatoid arthritis chronic lymphocytic leukemia dilated cardiomyopathy

lymphocytic leukemia metabolic disorders myocardial infarction cramps

polymyositis ischemia cardiomyopathy arthritis

4 diseases from the University of Copenhagen DISEASES database for AMPD1:

Glycogen storage disease Myopathy Barth syndrome Malignant hyperthermia

10/12 Novoseek 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 9 sources (see all 124):
(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. (2004)
AMPD1 (C34T) polymorphism and clinical outcomes in patients undergoing myocardial revascularization. (PubMed id 15882662)^{1, 4, 9} Andreassi M.G....Picano E. (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. (2000)
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. (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. (2000)
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. (2005)
The role of a common adenosine monophosphate deaminase (AMPD)-1 polymorphism in outcomes of ischemic and nonischemic heart failure. (PubMed id 16360962)^{1, 4, 9} Kolek M.J....Anderson J.L. (2005)
A common variant of the AMPD1 gene predicts improved survival in patients with ischemic left ventricular dysfunction. (PubMed id 15309698)^{1, 4, 9} Yazaki Y....Anderson J.L. (2004)
C34T AMP deaminase 1 gene mutation protects cardiac function in donors. (PubMed id 15239633)^{1, 4, 9} Yacoub M.H....Smolenski R.T. (2004)
Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study. (PubMed id 12783984)^{1, 4, 9} Rico-Sanz J....Bouchard C. (2003)

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

Query String		PubMed OMIM NCBI Bookshelf
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(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)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for AMPD1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AMPD1

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

GeneCards and IP:
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adenosine monophosphate deaminase 1

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AMPD1 Gene

adenosine monophosphate deaminase 1

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