AMPD3
entrez
272
canonical
uniprot
Q01432
canonical
ensembl
ENSG00000133805
resolver
ensp
ENSP00000379801
resolver
ensp
ENSP00000379802
resolver
ensp
ENSP00000396000
resolver
ensp
ENSP00000431648
resolver
ensp
ENSP00000436987
resolver
genesymbol
AMPD3
resolver
hgnc
HGNC:470
resolver
uniprot
A0AUX0
resolver
uniprot
B7Z2S2
resolver
uniprot
B7Z763
resolver
uniprot
B7Z877
resolver
uniprot_entry
AMPD3_HUMAN
resolver
uniprot_sec
A0AUX0
resolver
uniprot_sec
B7Z2S2
resolver
uniprot_sec
B7Z763
resolver
uniprot_sec
B7Z877
resolver
amino_acid_sequence
MPRQFPKLNISEVDEQVRLLAEKVFAKVLREEDSKDALSLFTVPEDCPIGQKEAKERELQKELAEQKSVETAKRKKSFKMIRSQSLSLQMPPQQDWKGPPAASPAMSPTTPVVTGATSLPTPAPYAMPEFQRVTISGDYCAGITLEDYEQAAKSLAKALMIREKYARLAYHRFPRITSQYLGHPRADTAPPEEGLPDFHPPPLPQEDPYCLDDAPPNLDYLVHMQGGILFVYDNKKMLEHQEPHSLPYPDLETYTVDMSHILALITDGPTKTYCHRRLNFLESKFSLHEMLNEMSEFKELKSNPHRDFYNVRKVDTHIHAAACMNQKHLLRFIKHTYQTEPDRTVAEKRGRKITLRQVFDGLHMDPYDLTVDSLDVHAGRQTFHRFDKFNSKYNPVGASELRDLYLKTENYLGGEYFARMVKEVARELEESKYQYSEPRLSIYGRSPEEWPNLAYWFIQHKVYSPNMRWIIQVPRIYDIFRSKKLLPNFGKMLENIFLPLFKATINPQDHRELHLFLKYVTGFDSVDDESKHSDHMFSDKSPNPDVWTSEQNPPYSYYLYYMYANIMVLNNLRRERGLSTFLFRPHCGEAGSITHLVSAFLTADNISHGLLLKKSPVLQYLYYLAQIPIAMSPLSNNSLFLEYSKNPLREFLHKGLHVSLSTDDPMQFHYTKEALMEEYAIAAQVWKLSTCDLCEIARNSVLQSGLSHQEKQKFLGQNYYKEGPEGNDIRKTNVAQIRMAFRYETLCNELSFLSDAMKSEEITALTN
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:11139257, ECO:0000269|PubMed:7881427, ECO:0000269|PubMed:8004104, ECO:0000269|PubMed:9598089}. 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:0000305|PubMed:9291127}.
uniprot
proteins
mass_dalton
88812
uniprot
proteins
pathway_participation
PATHWAY: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1. {ECO:0000305|PubMed:9291127}.
uniprot
proteins
protein_family
Adenosine and AMP deaminases family
uniprot
proteins
protein_family
Metallo-dependent hydrolases superfamily
uniprot
proteins
pubmed
11139257
uniprot
proteins
pubmed
1400401
uniprot
proteins
pubmed
1420359
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
7881427
uniprot
proteins
pubmed
8004104
uniprot
proteins
pubmed
8611627
uniprot
proteins
pubmed
9291127
uniprot
proteins
pubmed
9598089
uniprot
proteins
sequence_length
767
uniprot
proteins