| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: AMP deaminase plays a critical role in energy metabolism. CATALYTIC ACTIVITY: AMP + H(2)O = IMP + NH(3). COFACTOR: Binds 1 zinc ion per subunit (By similarity). PATHWAY: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1. SUBUNIT: Homotetramer. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P23109-1; Sequence=Displayed; Name=2; IsoId=P23109-2; Sequence=VSP_042638; 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. DISEASE: 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. SIMILARITY: Belongs to the adenosine and AMP deaminases family. 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; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AMPD1"; GENE SYNONYMS:AMPD1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 780 AA; 90219 MW; 2449E96D00312629 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:468,
urn:biopax:RelationshipXref:NCBI GENE_270,
urn:biopax:RelationshipXref:REFSEQ_NP_000027,
urn:biopax:RelationshipXref:REFSEQ_NP_001166097,
urn:biopax:UnificationXref:UNIPROT_A8K5N4,
urn:biopax:UnificationXref:UNIPROT_B2RAM1,
urn:biopax:UnificationXref:UNIPROT_F2Z3B3,
urn:biopax:UnificationXref:UNIPROT_P23109,
urn:biopax:UnificationXref:UNIPROT_Q5TF00,
urn:biopax:UnificationXref:UNIPROT_Q5TF02
|
| biopax3:displayName |
AMPD1_HUMAN
|
| biopax3:name |
3.5.4.6,
AMP deaminase isoform M,
AMPD1,
Myoadenylate deaminase
|
| biopax3:organism | |
| biopax3:sequence |
MNVRIFYSVSQSPHSLLSLLFYCAILESRISATMPLFKLPAEEKQIDDAMRNFAEKVFASEVKDEGGRQEISPFDVDEICPISHHEMQAHIFHLETLSTSTEARRKKRFQGRKTVNLSIPLSETSSTKLSHIDEYISSSPTYQTVPDFQRVQITGDYASGVTVEDFEIVCKGLYRALCIREKYMQKSFQRFPKTPSKYLRNIDGEAWVANESFYPVFTPPVKKGEDPFRTDNLPENLGYHLKMKDGVVYVYPNEAAVSKDEPKPLPYPNLDTFLDDMNFLLALIAQGPVKTYTHRRLKFLSSKFQVHQMLNEMDELKELKNNPHRDFYNCRKVDTHIHAAACMNQKHLLRFIKKSYQIDADRVVYSTKEKNLTLKELFAKLKMHPYDLTVDSLDVHAGRQTFQRFDKFNDKYNPVGASELRDLYLKTDNYINGEYFATIIKEVGADLVEAKYQHAEPRLSIYGRSPDEWSKLSSWFVCNRIHCPNMTWMIQVPRIYDVFRSKNFLPHFGKMLENIFMPVFEATINPQADPELSVFLKHITGFDSVDDESKHSGHMFSSKSPKPQEWTLEKNPSYTYYAYYMYANIMVLNSLRKERGMNTFLFRPHCGEAGALTHLMTAFMIADDISHGLNLKKSPVLQYLFFLAQIPIAMSPLSNNSLFLEYAKNPFLDFLQKGLMISLSTDDPMQFHFTKEPLMEEYAIAAQVFKLSTCDMCEVARNSVLQCGISHEEKVKFLGDNYLEEGPAGNDIRRTNVAQIRMAYRYETWCYELNLIAEGLKSTE
|
| biopax3:standardName |
AMP deaminase 1
|