| Type | Description |
|---|---|
| Definition | aspartylglucosaminidase |
| Date | Results | Publications |
|---|---|---|
| 2020-04-11 12:07:00 | T99K variant of glycosylasparaginase shows a new structural mechanism of the genetic disease aspartylglucosaminuria | 30901125 |
| 2019-06-15 11:02:00 | Determination a 1.6 A-resolution structure of the Finnish AGU model and building of an enzyme-substrate complex to provide a structural basis for analyzing the negative effects of the point mutation on KM and kcat of the mature enzyme. | 29993127 |
| 2018-03-17 10:48:00 | 1.8A resolution crystal structure of mature G172D mutant of a model missense GA corresponding to a Canadian aspartylglucosaminuria allele; studied the effect of its single amino acid change on substrate processing | 28457719 |
| 2017-12-09 14:05:00 | We show that gene-silenced cells show specifically reduced AGA activity and store globotriaosylceramide. In gene-silenced cells, release of the neurotransmitter acetylcholine is significantly reduced, demonstrating that this model may be used to study specific neuronal functions such as neurotransmitter release in Fabry disease | 27471012 |
| 2014-10-18 11:51:00 | study reports 2 novel aspartylglucosaminidase gene mutations, one in Qatari twins with an early, perinatal presentation not previously described for aspartylglucosaminuria and the other in 3 Turkish children with newly diagnosed aspartylglucosaminuria and a more classical disease course | 23271757 |
| Type | IDs |
|---|---|
| Synonymous | AGU, ASRG, GA |
| Gene |
UniProtKB-ID:
ASPG_HUMAN
UniprotKB:
P20933
UniParc:
UPI000013D53C
EMBL:
CR541715,
U21279,
BC012392,
U21277,
M60808,
X61959,
U21281,
U21280,
M60809,
AK312982,
U21273,
U21274,
AC027627,
M64075,
X55330,
AC078881,
U21278,
U21275,
CH471056,
M64073,
M64076,
X55762
Ensembl:
ENSG00000038002
KO:
hsa:175
|
| Nucleutide sequences |
EMBL-CDS:
CAG46516.1,
CAA39288.1,
AAH12392.1,
AAA35902.1,
BAG35819.1,
CAA39029.1,
EAX04715.1,
AAA35901.1,
AAA35905.1,
AAY40915.1,
AAA35903.1,
AAB60655.1,
CAA43958.1,
AAA35904.1,
EAX04714.1
Ensembl_TRS:
ENST00000264595
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000264595
RefSeq:
NP_001165459.1,
NP_000018.2
|
| Others |
UniRef100:
UniRef100_P20933
UniRef90:
UniRef90_P20933
UniRef50:
UniRef50_P20933
UniGene:
Hs.207776
CCDS:
CCDS3829.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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