AMPD1 Gene
protein-coding GIFtS: 65
GCID: GC01M115215
|
|
Adenosine Monophosphate Deaminase 1(Previous name: adenosine monophosphate deaminase 1 (isoform M))
| |
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)
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 | | AMPD Isoform M1 | | AMP Deaminase Isoform M3 |
Export aliases for AMPD1 gene to outside databasesPrevious GC identifers: GC01M115629 GC01M114097 GC01M114315 GC01M114514 GC01M114927 GC01M113074 |
Summaries
for AMPD1 gene(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 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 adenosine monophosphate deaminase 1 deficiency, and adenosine monophosphate deaminase deficiency muscle type, and among its related super-pathways are Metabolic pathways and Purine metabolism. GO annotations related to this gene include myosin heavy chain binding and AMP deaminase activity. An important paralog of this gene is AMPD3.
UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109Function: AMP deaminase plays a critical role in energy metabolism
Gene Wiki entry for AMPD1 (AMP deaminase) Gene
|
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 73),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.2 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
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: 1p13AMPD1 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)
Start:
|
115,215,719 bp from pter |
End:
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115,238,239 bp from pter |
Size:
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22,521 bases |
Orientation:
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minus strand |
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Proteins
for AMPD1 gene
(According to
UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE 1MOPED,
2PaxDb, and 3MAXQB
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
Cloud-Clone Corp.,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Cloud-Clone Corp.,
Ontologies according to Gene
Ontology Consortium 01 Oct 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
LSBio,
Abcam, and/or
Cloud-Clone Corp.)
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 Q5TF02Alternative 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:
View modification sites using PhosphoSitePlusView neXtProt modification sites for NX_P23109
4 DME Specific Peptides for AMPD1 (P23109)
AMPD1 Protein expression data from MOPED1, PaxDb2 and
MAXQB3 : About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000027.2 NP_001166097.1
ENSEMBL proteins: ENSP00000430075 ENSP00000358551 ENSP00000316520 Reactome Protein details: P23109
Human Recombinant Protein Products 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
AMPD1 Antibody Products:
Assay Products for AMPD1: |
Protein
Domains /
Families
for AMPD1 gene(According to HGNC, IUPHAR, InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| 3 InterPro protein domains: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, P23109Similarity: Belongs to the adenosine and AMP deaminases family
AMPD1 for domains About GeneDecksing
|
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,
inGenious Targeting Laboratory,
genOway,
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,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
Vector BioLabs,
and Sirion Biotech,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Oct 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: AMPD1_HUMAN, P23109Function: AMP deaminase plays a critical role in energy metabolismCatalytic 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 (GO ID links to tree view): About this table
AMPD1 for ontologies About GeneDecksing
Animal Models:
Cell Line
Products: |  | GenScript Custom overexpressing Cell Line Services for AMPD1 | |  | Search LifeMap BioReagents cell lines for AMPD1 | In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPD1 |
Pathways & Interactions
for AMPD1 gene
(Pathways according to
EMD Millipore,
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 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 Oct 2013 via
Entrez Gene).
About This Section
|
SuperPaths for AMPD1 About See pathways by source
| SuperPath | Contained pathways About |
|---|
| 1 | Metabolism | | | 2 | Purine metabolism | | | 3 | Purine metabolism | | | 4 | Immune response Function of MEF2 in T lymphocytes | |
Pathways by source See SuperPaths
Show all pathways
2  EMD Millipore Pathways for AMPD1
2  GeneGo (Thomson Reuters) Pathways for AMPD1
4 
Reactome Pathways for AMPD1
2 
Kegg Pathways (Kegg details for AMPD1):
UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1
AMPD1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM 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)
About this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006144 | purine nucleobase metabolic process |
TAS | -- | | GO:0006188 | IMP biosynthetic process |
-- | -- | | GO:0009168 | purine ribonucleoside monophosphate biosynthetic process |
-- | -- | | GO:0010033 | response to organic substance |
IEA | -- | | GO:0032264 | IMP salvage |
IEA | -- |
AMPD1 for ontologies About GeneDecksing
|
Drugs & Compounds
for AMPD1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek,
Ligands according to IUPHAR,
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 Tocris compounds for AMPD1
5 HMDB Compounds for AMPD1 About this table
1 DrugBank Compound for AMPD1 About this table
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
Search CenterWatch for drugs/clinical trials and news about AMPD1
|
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,
Conferences by KenesGroup,
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,
Sirion Biotech,
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_0000364 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000520113 ENST00000369538(uc001efe.2 uc001eff.2) ENST00000485564
ENST00000353928
Primer
Products: |  | OriGene qSTAR qPCR primer pairs in human, mouse for AMPD1
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AMPD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMPD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMPD1 |
Additional mRNA 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): AA351970 BU735103 CB159342 AK124287 BE501215 AA086476 AI753082 BE550752 BM725933 BQ575765 F32963 BM760989 CD678348 CB138859 AI568738 BM805502 NM_000036 AW072129 CK902410 BC056678 AB020623 BM475574 AI051051 BM796399
GeneLoc Exon Structure
|
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 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 <intensity>2/3
CGAP TAG: GCCTATCGCT
About this image
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, 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
SABiosciences Custom PCR Arrays for AMPD1
Primer
Products: | | OriGene qSTAR qPCR primer pairs in human, mouse for AMPD1
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AMPD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMPD1 | | | 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
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)
About This Section
|
This gene was present in the common ancestor of animals and fungi.
Orthologs for AMPD1 gene from 7/14 species (see all 14) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Ampd11 , 5 |
adenosine monophosphate deaminase 11, 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 |
adenosine monophosphate deaminase 1 |
78(a) |
1 ↔ 1 |
4(130353272-130371246) |
zebrafish
(Danio rerio) |
Actinopterygii |
BC063996.12 |
-- |
77.46(n) |
|
393867 BC063996.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG326266 |
-- |
43(a) |
1 → many |
X(13724774-13739894) |
worm
(Caenorhabditis elegans) |
Secernentea |
C34F11.3b3 |
-- |
47(a)
(best of 2) |
|
II(5202470-5209649) -- |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
AMD16 |
AMP deaminase, tetrameric enzyme that catalyzes th... |
34(a) |
1 → many |
XIII(206428-208860) |
ENSEMBL Gene Tree for AMPD1 (if available)
TreeFam Gene Tree for AMPD1 (if available) |
Paralogs
for AMPD1 gene(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
|
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) 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
|
| 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 |
|---|
HapMap Linkage Disequilibrium report for AMPD1 (115215719 - 115238239 bp)
Structural Variations
Database of Genomic Variants (DGV) 1 variation for AMPD1: About this table
Human Gene Mutation Database (HGMD): AMPD1
| | SABiosciences Cancer Mutation PCR Assays |
| | SeqTarget long-range PCR primers for resequencing AMPD1 |
|
Disorders
/ Diseases
for AMPD1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Conferences by KenesGroup,
Novoseek, Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
OMIM gene information: 102770
OMIM disorders: --
UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109
Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]: 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
20/27  diseases for AMPD1 (see all 27): About MalaCardsadenosine monophosphate deaminase 1 deficiency adenosine monophosphate deaminase deficiency muscle type adenosine monophosphate deaminase deficiency amp deaminase deficiency, erythrocytic
glycogen storage disease v barth syndrome congestive heart failure neuromuscular disease
myopathy malignant hyperthermia glycogen storage disease polymyositis
ischemia dilated cardiomyopathy coronary heart disease rhabdomyosarcoma
metabolic disorders rheumatoid arthritis malaria chronic lymphocytic leukemia
4 diseases from the University of Copenhagen DISEASES database for AMPD1:Glycogen storage disease Myopathy Barth syndrome Malignant hyperthermia
AMPD1 for disorders About GeneDecksing
Congresses - knowledge worth sharing: 
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 201510/12 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
|
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)
About This Section
|
PubMed articles for AMPD1 gene, integrated from 9 sources (see all 126):
(articles sorted by number of sources associating them with AMPD1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- 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. (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. (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)
- 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. (2008)
- 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. (2006)
- Does the C34T mutation in AMPD1 alter exercise capacity in the elderly? (PubMed id 16767606)1, 4, 9 Perez M....Lucia A. (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. (2005)
|
External Searches for AMPD1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing AMPD1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing AMPD1 gene
(According to HUGE)
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Specialized Databases showing AMPD1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for AMPD1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AMPD1 |
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| Patent Information for AMPD1 gene:
Search GeneIP for patents involving AMPD1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for AMPD1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory,
genOway)
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AMPD1 | | | QIAGEN SeqTarget long-range PCR primers for resequencing AMPD1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMPD1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMPD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMPD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMPD1 |
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| | | | Search Tocris compounds for AMPD1 |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPD1 |
|  |  |  |  | | | | ThermoFisher Antibodies for AMPD1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMPD1 |
| |  |  |  | | | | LSBio Antibodies in human, mouse, rat for AMPD1 |
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GeneCards Homepage -
Last full update: 23 Oct 2013 -
Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014
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