InnateDB Protein
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IDBP-602367.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AMPD3
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Protein Name
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adenosine monophosphate deaminase 3
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000436987
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InnateDB Gene
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IDBG-31696 (AMPD3)
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Protein Structure
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Function |
AMP deaminase plays a critical role in energy metabolism.
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Subcellular Localization |
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Disease Associations |
Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]: A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders. {ECO:0000269PubMed:11139257, ECO:0000269PubMed:7881427, ECO:0000269PubMed:8004104, ECO:0000269PubMed:9598089}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform 1 is the predominant form in skeletal muscle; Isoform 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; Isoform 3 is found in erythrocytes.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001365
Adenosine/AMP deaminase domain
IPR006329
AMP deaminase
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PFAM |
PF00962
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PRINTS |
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PIRSF |
PIRSF001251
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q01432
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PhosphoSite |
PhosphoSite-Q01432
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TrEMBL |
E9PPG2
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UniProt Splice Variant |
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Entrez Gene |
272
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UniGene |
Hs.738353
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RefSeq |
NP_001020561
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HUGO |
HGNC:470
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OMIM |
102772
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CCDS |
CCDS44537
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HPRD |
00041
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IMGT |
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EMBL |
AC021914
AC080023
AC084117
AK289998
AK295046
AK301507
AK302970
BC126118
CH471064
D12775
D31646
M84720
M84721
M84722
U29907
U29909
U29910
U29911
U29912
U29916
U29917
U29918
U29922
U29924
U29925
U29926
U29927
U29929
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GenPept |
AAA58365
AAA58366
AAA58367
AAB60408
AAB60409
AAB60410
AAI26119
BAA02240
BAA06505
BAF82687
BAH11958
BAH13499
BAH13863
EAW68567
EAW68568
EAW68569
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