| Type | Description |
|---|---|
| Definition | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| Date | Results | Publications |
|---|---|---|
| 2021-03-13 13:27:00 | FAM3B/PANDER-Like Carbohydrate-Binding Domain in a Glycosyltransferase, POMGNT1. | 32306360 |
| 2019-07-27 10:58:00 | Genetic testing revealed two known heterozygous mutations in the POMGnT1 gene confirming muscular dystrophy-dystroglycanopathy type A (MDDGA3), one of a group of diseases collectively known as congenital muscular dystrophies, is an alpha-dystroglycanopathy with characteristic brain and ocular abnormalities. | 29555514 |
| 2019-02-16 10:13:00 | Next-generation sequencing data analysis revealed that all three muscle-eye-brain disease patients had the same novel copy number variations (CNV) g.6668-8257del, which was homozygous in patient 1 and heterozygous in patients 2 and 3. | 28765568 |
| 2018-07-07 10:19:00 | These findings demonstrate that PomGnT1 might be a new focus of glioblastoma (GBM)research for treatment of recurrent Temozolomide -resistant GBM | 29048655 |
| 2017-06-24 11:59:00 | The authors have identified a novel mutation in POMGNT1 that causes nonsyndromic autosomal recessive retinitis pigmentosa, adding to the genetic heterogeneity of this retinal disease. | 27391550 |
| Type | IDs |
|---|---|
| Synonymous | GNTI.2, GnT I.2, LGMD2O, LGMDR15, MEB, MGAT1.2, RP76, gnT-I.2 |
| Gene |
UniProtKB-ID:
PMGT1_HUMAN,
B7Z7F2_HUMAN,
B7Z7Q4_HUMAN
UniprotKB:
Q8WZA1,
B7Z7F2,
B7Z7Q4
UniParc:
UPI000191517D,
UPI00019152F3,
UPI0000458AF4,
UPI000013FEED
EMBL:
AK301923,
AL672043,
AF250859,
AK302379,
BC001471,
AY358592,
AK022727,
CH471059,
AB057356,
AK056186,
AK000284
Ensembl:
ENSG00000085998
KO:
hsa:55624
|
| Nucleutide sequences |
EMBL-CDS:
AAQ88955.1,
AAH01471.1,
BAB71960.1,
BAA91053.1,
BAB14207.1,
AAF71270.2,
EAX06935.1,
EAX06932.1,
EAX06933.1,
BAH13588.1,
BAH13690.1
Gene_ORFName:
UNQ746/PRO1475
Ensembl_TRS:
ENST00000371992,
ENST00000371984
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000361052,
ENSP00000361060
RefSeq:
XP_006710819.1,
XP_011540062.1,
NP_060209.4,
XP_016857179.1,
NP_001277058.2,
XP_005271067.1,
XP_006710818.1,
NP_001277059.2,
NP_001230695.2
|
| Others |
UniRef100:
UniRef100_B7Z7Q4,
UniRef100_Q8WZA1,
UniRef100_B7Z7F2
UniRef90:
UniRef90_Q8WZA1,
UniRef90_Q8WZA1-2,
UniRef90_B7Z7F2
UniRef50:
UniRef50_A0A1V9XPN8,
UniRef50_Q8WZA1
UniGene:
Hs.525134
CCDS:
CCDS531.1
|
| {{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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