AMPD3_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
AMPD3
Protein names and data:
AMPD3_HUMAN
, AMP deaminase 3; 3.5.4.6
, AMP deaminase isoform E; Erythrocyte AMP deaminase
Lenght: 767 a.a.
Mass: 88812 Da
fasta formatted sequence
Function:
AMP deaminase plays a critical role in energy metabolism.
Catalytic activity:
AMP + H(2)O = IMP + NH(3).
Pathway:
Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.
Disease:
( OMIM:
102772
612874
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
Genetic variants
185 - 185
R -> W (in dbSNP:rs11042836). VAR_033499
11042836
310 - 310
N -> K (in AMPDDE). VAR_042606
311 - 311
V -> L (in AMPDDE; dbSNP:rs117706710). VAR_042607
117706710
320 - 320
A -> V (in AMPDDE). VAR_042608
324 - 324
M -> T (in AMPDDE). VAR_042609
331 - 331
R -> C (in AMPDDE). VAR_042610
402 - 402
R -> C (in AMPDDE). VAR_042611
450 - 450
W -> R (in AMPDDE). VAR_042612
455 - 455
Y -> H (in dbSNP:rs36003153). VAR_042613
36003153
573 - 573
R -> C (in AMPDDE; enzyme inactive; dbSNP:rs3741040). VAR_009881
3741040
585 - 585
P -> L (in AMPDDE). VAR_042614
712 - 712
Q -> P (in AMPDDE). VAR_042615
Database cross-references
UniProt:
Q01432
Ensembl:
ENST00000396553
Ensembl:
ENST00000396554
Ensembl:
ENST00000444303
Ensembl:
ENST00000528723
Ensembl:
ENST00000529507
MIM:
102772
MIM:
612874
neXtProt:
NX_Q01432
Antibodypedia:
Q01432
(may not find the protein thus also not any antibody)
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