PUR8_HUMAN
Source:
hRBCD
; ID:
IPI00026904
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
ADSL
, AMPS
Protein names and data:
PUR8_HUMAN
, Adenylosuccinate lyase; ASL; 4.3.2.2
, Adenylosuccinase; ASase
Lenght: 484 a.a.
Mass: 54889 Da
fasta formatted sequence
Function:
Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate.
Catalytic activity:
N(6)-(1,2-dicarboxyethyl)AMP = fumarate + AMP. (S)-2-(5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1- (5-phospho-D-ribosyl)imidazole-4-carboxamide.
Pathway:
Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 2/2. Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5- amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate: step 2/2.
Disease:
( OMIM:
103050
608222
)
Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]: An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole- carboxamide riboside (SAICA-riboside) and succinyladenosine (S- Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.
Genetic variants
2 - 2
A -> V (in ADSL deficiency; severe; dbSNP:rs143083947). VAR_016930
143083947
3 - 3
A -> V (in ADSL deficiency; severe). VAR_017078
26 - 26
M -> L (in ADSL deficiency; severe). VAR_016931
31 - 31
S -> N (in dbSNP:rs5757921). VAR_037883
5757921
72 - 72
I -> V (in ADSL deficiency; severe). VAR_007972
100 - 100
P -> A (in ADSL deficiency; moderate). VAR_017079
114 - 114
Y -> H (in ADSL deficiency; severe. Total loss of activity). VAR_017080
141 - 141
R -> W (in ADSL deficiency; severe). VAR_007973
147 - 147
K -> M (in dbSNP:rs11089991). VAR_037884
11089991
190 - 190
R -> Q (in ADSL deficiency; moderate; dbSNP:rs28941471). VAR_007974
28941471
194 - 194
R -> C (in ADSL deficiency; severe. Reduces protein stability). VAR_017081
246 - 246
K -> E (in ADSL deficiency; moderate. Strongly reduced catalytic activity). VAR_007975
268 - 268
D -> N (in ADSL deficiency; severe. Total loss of activity). VAR_017082
303 - 303
R -> C (in ADSL deficiency; mild. Strongly reduced activity with SAMP, but only slightly reduced activity with SAICAR. Abolishes cooperativity). VAR_007976
311 - 311
L -> V (in ADSL deficiency; severe. Slightly reduced enzyme activity). VAR_017083
318 - 318
P -> L (in ADSL deficiency; severe). VAR_017084
364 - 364
V -> M (in ADSL deficiency; severe). VAR_017085
374 - 374
R -> W (in ADSL deficiency; severe). VAR_017086
395 - 395
S -> R (in ADSL deficiency; severe). VAR_007977
396 - 396
R -> C (in ADSL deficiency; severe. Abolishes cooperativity and reduces enzyme activity). VAR_017087
396 - 396
R -> H (in ADSL deficiency; severe. Abolishes cooperativity and reduces enzyme activity). VAR_017088
422 - 422
D -> Y (in ADSL deficiency; moderate). VAR_017089
423 - 423
L -> V (in ADSL deficiency; moderate). VAR_017090
426 - 426
R -> H (in ADSL deficiency; severe. Most frequent mutation). VAR_007978
430 - 430
D -> N (in ADSL deficiency; mild). VAR_017091
438 - 438
S -> P (in ADSL deficiency; severe). VAR_000680
447 - 447
S -> P (in ADSL deficiency; severe). VAR_017092
450 - 450
T -> S (in ADSL deficiency; moderate). VAR_016932
452 - 452
R -> P (in ADSL deficiency; severe). VAR_017093
Database cross-references
UniProt:
P30566
Ensembl:
ENST00000216194
Ensembl:
ENST00000342312
MIM:
103050
MIM:
608222
neXtProt:
NX_P30566
Antibodypedia:
P30566
(may not find the protein thus also not any antibody)
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