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Aliases & Descriptions for AMPD1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 3.5.4.6 3 | | MAD 1, 2 | | MADA 1, 2 | | OTTHUMP00000013665 2 | | OTTHUMP00000059283 2 |
| | | Descriptions |
|---|
| AMP deaminase isoform M 3 | | Myoadenylate deaminase 3 | | adenosine monophosphate deaminase 1 (isoform M) 2 | | adenosine monophosphate deaminase-1 (muscle) 2 |
|
| | Search outside databases for aliases for AMPD1 genePrevious GC identifers: GC01M115629 GC01M114097 GC01M114315 GC01M114514 |
Summaries for AMPD1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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. [provided by RefSeq] UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109Function: AMP deaminase plays a critical role in energy metabolismGene Wiki entry for AMPD1 (AMP_deaminase) |
Genomic Location for AMPD1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the AMPD1 gene 
Entrez Gene cytogenetic band: 1p13 Ensembl cytogenetic band: 1p13.2 HGNC cytogenetic band: 1p13AMPD1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M114927:
(about GC identifiers)
Start:
|
115,017,240 bp from pter |
End:
|
115,039,762 bp from pter |
Size:
|
22,523 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000001.9 NT_019273.18
| Proteins for AMPD1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109 (See
protein sequence)Recommended Name: AMP deaminase 1 Size: 747 amino acids; 86490 Da
Subunit: Homotetramer
Secondary accessions: Q5TF00Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000027.1
ENSEMBL proteins: ENSP00000358551 ENSP00000316520 ENSP00000376950 ENSP00000376949
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: AMPD1 
Antibodies for AMPD1: Assays for AMPD1: | Protein
Domains/ Families for AMPD1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P23109Similarity: Belongs to the adenosine and AMP deaminases family | Gene Function for AMPD1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000036
Applied Biosystems Silencer® siRNAs for AMPD1
Sigma-Aldrich siRNA and siRNA Panels for AMPD1  Sigma-Aldrich shRNA for AMPD1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000036                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000036                                  untagged cDNA clone in CMV expression vector: NM_000036 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000036
UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109Function: AMP deaminase plays a critical role in energy metabolismCatalytic activity: AMP + H(2)O = IMP + NH(3)Enzyme Number (IUBMB): EC 3.5.4.6 Genatlas biochemistry entry for AMPD1:adenosine monophosphate deaminase 1 (isoform M,skeletal muscle),adenine nucleotide catabolic pathway,purine nucleotide cycle2 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for AMPD1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
1 Sigma-Aldrich "Your Favorite Gene" Pathway for AMPD1 (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1 5/57 Interacting proteins for AMPD1 (ENSP000003585513) via UniProtKB, MINT, and/or STRING (see all 57
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006144 | purine base metabolic process |
IEA | -- | | GO:0009117 | nucleotide metabolic process |
IEA | -- | | GO:0009168 | purine ribonucleoside monophosphate biosynthetic process |
IEA | -- | About this table
|
Drugs & Compounds for AMPD1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for AMPD1 5 Novoseek chemical compound relationships for AMPD1 gene
About this table
|
Transcripts for AMPD1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000036
Sigma-Aldrich siRNA and siRNA Panels for AMPD1  Sigma-Aldrich shRNA for AMPD1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000036 REFSEQ mRNAs for AMPD1 gene: NM_000036.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000036               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000036                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000036                                  untagged cDNA clone in CMV expression vector: NM_000036  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
):BM725933 BU735103 BU155332 CD365237 BM794628 BX283953 NM_005872 BG429612 AA808494 AA351970 BX499618 CB138859 CD678348 BM796399 BX105646 BG030450 AA719669 AI015700 BM700009 BU678635 AB020623 AI051051 AW083722 AW072129
highest scoring ESTs for AMPD1:M60092 AK097077 BC056678 BF574797 BX500639 BX500792 BX500838 AI369551 DA014671 DA764180 Unigene Cluster for AMPD1: Adenosine monophosphate deaminase 1 (isoform M) Hs.89570 [show with all ESTs]Unigene Representative Sequence: AK097077
GeneLoc Exon Structure
4 Ensembl transcripts including schematic representations: ENST00000369538
ENST00000353928
ENST00000393268
ENST00000393267
|
Expression for AMPD1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| AMPD1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for AMPD1
1 / 2 / 3 3 probe-sets matching AMPD1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GCCTATCGCT
SOURCE GeneReport for Unigene cluster: Hs.89570
Expression variation in blood from EXPOLDB for AMPD1 UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109Tissue 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 |
Orthologs for AMPD1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for AMPD1 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for AMPD1
ENSEMBL Gene Tree for AMPD1 | Paralogs for AMPD1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for AMPD1 gene
- AMPD32 AMPD22
|
SNPs/Variants for AMPD1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for AMPD1 (up to first 250kb)
|
Disorders & Mutations for AMPD1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 102770 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 fatigue10/12 Novoseek disease relationships for AMPD1 gene (see all 12
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| mcardles disease |
84.02 |
3 |
19232494 (1), 12666117 (1) |
| myopathy |
67.91 |
7 |
11102975 (2), 8486786 (1), 11408438 (1), 19258857 (1) (see all 5) |
| rhabdomyolysis |
62.86 |
1 |
1440976 (1) |
| enzyme deficiency |
42.25 |
1 |
9760316 (1) |
| heart failure congestive |
39.88 |
12 |
16996850 (3), 15135700 (2), 17452135 (1), 17452134 (1) (see all 7) |
| heart failure |
38.42 |
15 |
14499869 (3), 15239633 (2), 11028479 (1), 12448564 (1) (see all 9) |
| neuromuscular diseases |
36.17 |
1 |
15368811 (1) |
| coronary artery disease |
27.35 |
6 |
11028479 (1), 17376785 (1), 16875916 (1), 15882662 (1) (see all 5) |
| cardiovascular diseases |
9.49 |
3 |
17378808 (1), 18855224 (1) |
| myocardial ischemia |
6.45 |
5 |
14499869 (1), 12448564 (1), 16021915 (1) |
About this table
Genatlas disease: AMPD1 myopathy,exercise-related Human Gene Mutation Database: AMPD1 Genetic Association Database: AMPD1 Human Genome Epidemiology Navigator: AMPD1 (29 documents)
|
Medical News for AMPD1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for AMPD1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/105 PubMed articles for AMPD1 gene (see all 105
):- 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, 3, 6 Gastmann A....Figulla H.R. (2004)
- AMPD1 (C34T) polymorphism and clinical outcomes in patients undergoing myocardial revascularization. (PubMed id 15882662)1, 3, 6 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, 3, 4 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, 3, 6 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, 3, 6 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, 3, 6 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, 3, 6 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, 3, 6 Yazaki Y....Anderson J.L. (2004)
- C34T AMP deaminase 1 gene mutation protects cardiac function in donors. (PubMed id 15239633)1, 3, 6 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, 3, 6 Rico-Sanz J....Bouchard C. (2003)
|
Search for AMPD1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing AMPD1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing AMPD1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AMPD1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=AMPD1 |
|
| | | About This Section
| --
| Services for AMPD1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for AMPD1:

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