| Type | Description |
|---|---|
| Definition | beta-1,3-glucuronyltransferase 3 |
| Date | Results | Publications |
|---|---|---|
| 2018-09-29 11:33:00 | We identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3. This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome. | 28771243 |
| 2015-08-22 10:30:00 | Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.(Arg277Gln), we suggest mutation B3GAT3:p.(Pro140Leu) to cause a different type of GAG linkeropathy showing no involvement of the heart. | 25893793 |
| 2011-09-24 11:06:00 | Reduced GlcAT-I activity impairs skeletal as well as heart development and results in variable combinations of heart malformations. | 21763480 |
| 2010-01-21 00:00:00 | GlcAT-I has a role in controlling and reversing articular cartilage defects | 15601778 |
| 2010-01-21 00:00:00 | we evaluated the consequences of C-4/C-6 sulfation of Galbeta1-3Gal (Gal2-Gal1) on the activity and specificity of beta1,3-glucuronosyltransferase I | 15522873 |
| Type | IDs |
|---|---|
| Synonymous | GLCATI, JDSCD, glcUAT-I |
| Gene |
UniProtKB-ID:
B3GA3_HUMAN,
Q5U676_HUMAN,
G3V150_HUMAN
UniprotKB:
O94766,
Q5U676,
G3V150
UniParc:
UPI000006F88E,
UPI0000451C88,
UPI00019154E2,
UPI0000D48EED
EMBL:
AJ005865,
AB009598,
BC071961,
AP001458,
CH471076,
AK316228,
BC019832,
BC007906
Ensembl:
ENSG00000149541
KO:
hsa:26229
|
| Nucleutide sequences |
EMBL-CDS:
AAH07906.1,
AAH71961.1,
BAA34537.1,
CAA06742.1,
BAH14599.1,
AAH19832.1,
EAW74042.1
Gene_ORFName:
hCG_16017
Ensembl_TRS:
ENST00000265471,
ENST00000534026,
ENST00000531383
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000432474,
ENSP00000265471,
ENSP00000431359
RefSeq:
NP_001275650.1,
NP_001275651.1,
NP_001275652.1,
NP_036332.2
|
| Others |
UniRef100:
UniRef100_G3V150,
UniRef100_O94766,
UniRef100_Q5U676
UniRef90:
UniRef90_A0A1D5QBV5,
UniRef90_O94766,
UniRef90_O94766-2
UniRef50:
UniRef50_O94766-2,
UniRef50_A0A1D5QBV5,
UniRef50_O94766
UniGene:
Hs.502759
CCDS:
CCDS8025.1,
CCDS76418.1
|
| {{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