InnateDB Protein
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IDBP-101301.7
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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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AMPD1
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Protein Name
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adenosine monophosphate deaminase 1
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Synonyms
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MAD; MADA; MMDD;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000358551
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InnateDB Gene
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IDBG-101299 (AMPD1)
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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 |
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. {ECO:0000269PubMed:11102975}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[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 |
P23109
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PhosphoSite |
PhosphoSite-P23109
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TrEMBL |
Q6F4B9
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UniProt Splice Variant |
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Entrez Gene |
270
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UniGene |
Hs.89570
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RefSeq |
NP_001166097
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HUGO |
HGNC:468
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OMIM |
102770
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CCDS |
CCDS53349
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HPRD |
00040
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IMGT |
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EMBL |
AB160874
AB160875
AB160876
AB160877
AB160878
AK291349
AK314252
AL096773
CH471122
M37920
M37921
M37922
M37923
M37924
M37927
M37928
M37929
M37930
M37931
M60092
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GenPept |
AAA57281
AAG24258
BAD27426
BAD27427
BAD27428
BAD27429
BAD27430
BAF84038
BAG36918
CAI18828
CAI18830
EAW56607
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