| Type | Description |
|---|---|
| Definition | adenine phosphoribosyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2020-03-21 12:23:00 | binding to hAPRT is substrate shape-specific in the forward reaction, whereas it is base-specific in the reverse reaction. The forward reaction is mainly a nucleophilic substitution of type 2 (SN2) with a mix of SN1-type molecular mechanism. Based on our structural analysis, a magnesium-assisted SN2-type mechanism would be involved in the reverse reaction. | 31160323 |
| 2019-05-18 10:30:00 | We found large differences between tumour types and individual tumours in their expression of XDH and APRT Variations in locus-specific DNA methylation and gene copy number correlated with the expression levels of XDH and APRT in human tumours respectively | 30104401 |
| 2016-08-13 11:19:00 | A long TA repeat in the promoter region of IL28B was associated with spontaneous HCV clearance. | 25735432 |
| 2015-04-04 12:33:00 | A new mutation, p.Gln147X, in APRT gene, was found in a patient with adenine phosphoribosyltransferase deficiency. | 24986359 |
| 2012-03-24 11:15:00 | Case study of 2 year old Japanese boy with APRT deficiency. Genetic analysis showed compound heterozygote APRT*J and missense mutation L33P. APRT deficiency should be suspected in patients with radiolucent kidney stones and urinary 2,8-DHA crystals. | 21635362 |
| Type | IDs |
|---|---|
| Synonymous | AMP, APRTD |
| Gene |
UniProtKB-ID:
APT_HUMAN
UniprotKB:
P07741
UniParc:
UPI0000161B16,
UPI0000576838
EMBL:
CR749423,
BM550173,
BC107151,
CH471184,
M16446,
AC092384,
AY306126,
Y00486
Ensembl:
ENSG00000198931
KO:
hsa:353
|
| Nucleutide sequences |
EMBL-CDS:
EAW66761.1,
AAP45051.1,
CAA68543.1,
CAH18261.1,
AAA51769.1,
AAI07152.1
Ensembl_TRS:
ENST00000378364,
ENST00000426324
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000397007,
ENSP00000367615
RefSeq:
NP_001025189.1,
NP_000476.1
|
| Others |
UniRef100:
UniRef100_P07741
UniRef90:
UniRef90_P07741
UniRef50:
UniRef50_P07741
UniGene:
Hs.28914
CCDS:
CCDS45546.1,
CCDS32511.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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