| Type | Description |
|---|---|
| Definition | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:38:00 | Crystal Structure of the Mannose-6-Phosphate Uncovering Enzyme. | 32109365 |
| 2020-08-01 10:58:00 | We evaluated 51 stuttering individuals with a mutation in either the GNPTAB, GNPTG, NAGPA, or AP4E1 gene. Mutation carriers achieved significantly less resolution in PSI following therapy, with PSI scores showing significantly less improvement in individuals who carry a mutation (p = 0.0157, RR = 1.75, OR = 2.92) while the group difference in DWS between carriers and non-carriers was statistically not significant. | 31003007 |
| 2018-02-10 11:46:00 | 14 variations were found in GNPTAB, GNPTG and NAGPA genes. | 29289611 |
| 2015-11-14 10:31:00 | SNPs covering GNPTAB, GNPTG and NAGPA were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons. | 25643770 |
| 2013-08-31 10:39:00 | Mutational analysis of several residues in a highly conserved surface cavity of hUCE revealed that they are essential for function. | 23572527 |
| Type | IDs |
|---|---|
| Synonymous | APAA, UCE |
| Gene |
UniProtKB-ID:
NAGPA_HUMAN
UniprotKB:
Q9UK23
UniParc:
UPI000059D308,
UPI000013F295,
UPI000006D384
EMBL:
BC012194,
AC026458,
AK127952,
AF187072,
CH471112,
AK314320
Ensembl:
ENSG00000103174
KO:
hsa:51172
|
| Nucleutide sequences |
EMBL-CDS:
AAH12194.1,
AAF08273.1,
BAG54605.1,
BAG36968.1,
EAW85245.1
Ensembl_TRS:
ENST00000312251,
ENST00000381955,
ENST00000649828,
ENST00000562746
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000310998,
ENSP00000455900,
ENSP00000371381,
ENSP00000498032
RefSeq:
NP_057340.2,
XP_011520819.1
|
| Others |
UniRef100:
UniRef100_Q9UK23
UniRef90:
UniRef90_Q9UK23
UniRef50:
UniRef50_Q9UK23
UniGene:
Hs.21334
CCDS:
CCDS10527.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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