| Type | Description |
|---|---|
| Definition | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
| Date | Results | Publications |
|---|---|---|
| 2021-03-20 13:31:00 | Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally? | 32560373 |
| 2021-02-02 13:24:00 | Structures of Bacterial MraY and Human GPT Provide Insights into Rational Antibiotic Design. | 32199982 |
| 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 |
| 2020-04-04 11:20:00 | These data suggest that vocalization defects in mice carrying human stuttering mutations in Gnptab derive from abnormalities in astrocytes, particularly in the corpus callosum, and provide support for hypotheses that focus on deficits in interhemispheric communication in stuttering. | 31405983 |
| 2020-03-21 10:10:00 | Data provide an overview on 258 mutations in GNPTAB including 58 novel ones. Comprehensive functional studies of GNPTAB missense mutations did not only gain insights into the composition and function of the GlcNAc-1-phosphotransferase, but also helped to define genotype-phenotype correlations to predict the clinical outcome in patients with mucolipidosis. | 30882951 |
| Type | IDs |
|---|---|
| Synonymous | GNPTA, ICD |
| Gene |
UniProtKB-ID:
GNPTA_HUMAN
UniprotKB:
Q3T906
UniParc:
UPI000037830A,
UPI000004CC0C
EMBL:
BC071687,
BC131787,
AY687932,
AM085438,
BC042615,
AB033034,
AK056137
Ensembl:
ENSG00000111670
KO:
hsa:79158
|
| Nucleutide sequences |
EMBL-CDS:
CAJ30014.1,
AAH42615.1,
BAB71102.1,
AAH71687.1,
AAI31788.1,
BAA86522.2,
AAV98624.1
Ensembl_TRS:
ENST00000299314,
ENST00000549940
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000299314,
ENSP00000449150
RefSeq:
XP_016875451.1,
XP_006719656.1,
XP_011537033.1,
NP_077288.2,
XP_016875450.1
|
| Others |
UniRef100:
UniRef100_Q3T906
UniRef90:
UniRef90_Q3T906
UniRef50:
UniRef50_Q3T906
UniGene:
Hs.46850
CCDS:
CCDS9088.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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