AMPD1
entrez
270
canonical
uniprot
P23109
canonical
ensembl
ENSG00000116748
resolver
ensp
ENSP00000358551
resolver
ensp
ENSP00000430075
resolver
genesymbol
AMPD1
resolver
hgnc
HGNC:468
resolver
uniprot
A8K5N4
resolver
uniprot
B2RAM1
resolver
uniprot
F2Z3B3
resolver
uniprot
Q5TF00
resolver
uniprot
Q5TF02
resolver
uniprot_entry
AMPD1_HUMAN
resolver
uniprot_sec
A8K5N4
resolver
uniprot_sec
B2RAM1
resolver
uniprot_sec
F2Z3B3
resolver
uniprot_sec
Q5TF00
resolver
uniprot_sec
Q5TF02
resolver
amino_acid_sequence
MPLFKLPAEEKQIDDAMRNFAEKVFASEVKDEGGRQEISPFDVDEICPISHHEMQAHIFHLETLSTSTEARRKKRFQGRKTVNLSIPLSETSSTKLSHIDEYISSSPTYQTVPDFQRVQITGDYASGVTVEDFEIVCKGLYRALCIREKYMQKSFQRFPKTPSKYLRNIDGEAWVANESFYPVFTPPVKKGEDPFRTDNLPENLGYHLKMKDGVVYVYPNEAAVSKDEPKPLPYPNLDTFLDDMNFLLALIAQGPVKTYTHRRLKFLSSKFQVHQMLNEMDELKELKNNPHRDFYNCRKVDTHIHAAACMNQKHLLRFIKKSYQIDADRVVYSTKEKNLTLKELFAKLKMHPYDLTVDSLDVHAGRQTFQRFDKFNDKYNPVGASELRDLYLKTDNYINGEYFATIIKEVGADLVEAKYQHAEPRLSIYGRSPDEWSKLSSWFVCNRIHCPNMTWMIQVPRIYDVFRSKNFLPHFGKMLENIFMPVFEATINPQADPELSVFLKHITGFDSVDDESKHSGHMFSSKSPKPQEWTLEKNPSYTYYAYYMYANIMVLNSLRKERGMNTFLFRPHCGEAGALTHLMTAFMIADDISHGLNLKKSPVLQYLFFLAQIPIAMSPLSNNSLFLEYAKNPFLDFLQKGLMISLSTDDPMQFHFTKEPLMEEYAIAAQVFKLSTCDMCEVARNSVLQCGISHEEKVKFLGDNYLEEGPAGNDIRRTNVAQIRMAYRYETWCYELNLIAEGLKSTE
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:11102975}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.4.6
uniprot
proteins
function
FUNCTION: AMP deaminase plays a critical role in energy metabolism. {ECO:0000269|PubMed:11102975}.
uniprot
proteins
mass_dalton
86490
uniprot
proteins
pathway_participation
PATHWAY: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1. {ECO:0000269|PubMed:11102975}.
uniprot
proteins
protein_family
Adenosine and AMP deaminases family
uniprot
proteins
protein_family
Metallo-dependent hydrolases superfamily
uniprot
proteins
pubmed
11102975
uniprot
proteins
pubmed
1370861
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1631143
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
2345176
uniprot
proteins
sequence_length
747
uniprot
proteins