| Type | Description |
|---|---|
| Definition | protein O-glucosyltransferase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-01-25 13:18:00 | This is the first study to demonstrate that POGLUT1 and not CD80 is the effector gene regulated by the primary functional SNP rs2293370, and that increased expression of POGLUT1 might be involved in the pathogenesis of Primary biliary cholangitis. | 30643196 |
| 2019-10-05 10:45:00 | RUMI is a novel negative prognostic factor with significant therapeutic potential in non-small-cell lung cancer. | 29953591 |
| 2019-08-24 11:46:00 | To conclude, we report a new heterozygous nonsense mutation in POGLUT1 predicted to result in a loss of function in two siblings with DD disease. | 29569780 |
| 2019-08-17 10:17:00 | Case Report: Japanese female with Galli-Galli Disease due to novel POGLUT1 mutation. | 30653241 |
| 2018-07-07 10:57:00 | Here we report the generation and characterization of an iPSC line (CSCRMi001-A) from a LGMD-2Z patient with missense mutation in POGLUT1 which can be used for in vitro disease modeling. | 29034878 |
| Type | IDs |
|---|---|
| Synonymous | C3orf9, CLP46, KDELCL1, KTELC1, LGMD2Z, LGMDR21, MDS010, MDSRP, Rumi, hCLP46 |
| Gene |
UniProtKB-ID:
PGLT1_HUMAN,
B4DJ97_HUMAN
UniprotKB:
Q8NBL1,
B4DJ97
UniParc:
UPI000003B0C3,
UPI0000422656
EMBL:
BC030614,
BC048810,
AK075444,
AK222937,
AK295984,
CH471052,
AC073352,
AY358581,
AC074271,
AK315367,
AY298903
Ensembl:
ENSG00000163389
KO:
hsa:56983
|
| Nucleutide sequences |
EMBL-CDS:
AAH30614.1,
EAW79570.1,
AAQ88944.1,
AAP56253.1,
AAH48810.1,
BAC11625.1,
BAG37760.1,
BAD96657.1,
BAG58759.1
Gene_ORFName:
UNQ490/PRO1006,
MDS010
Ensembl_TRS:
ENST00000295588
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000295588
RefSeq:
XP_016862367.1,
XP_006713768.1,
NP_689518.1,
XP_016862368.1,
XP_024309411.1
|
| Others |
UniRef100:
UniRef100_Q8NBL1
UniRef90:
UniRef90_Q8NBL1
UniRef50:
UniRef50_Q8NBL1
UniGene:
Hs.231750
CCDS:
CCDS2988.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员