| Type | Description |
|---|---|
| Definition | sucrase-isomaltase |
| Date | Results | Publications |
|---|---|---|
| 2019-11-16 12:23:00 | Through a 2-step computational and experimental strategy, the present study found increased prevalence new dysfunctional SI variants associated with irritable bowel syndrome. | 29408290 |
| 2018-12-01 10:06:00 | Three biosynthetic phenotypes for the novel SI mutations were identified. The first biosynthetic phenotype was defined by mutants that are intracellularly transported in a fashion similar to wild type SI and with normal, but varying, levels of enzymatic activity. The second biosynthetic phenotype was defined by mutants with delayed maturation and trafficking kinetics and reduced activity. The third is inactive. | 28062276 |
| 2018-02-24 11:37:00 | Novel compound heterozygote V577G/C1531W SI mutations, which lead to lack of SI expression in the duodenal brush border, were found in a family with congenital sucrase-isomaltase deficiency. | 27749612 |
| 2015-06-20 11:45:00 | A common mutation was found in the sucrase-isomaltase gene, c.273_274delAG, to be responsible for the high prevalence of congenital sucrase-isomaltase deficiency among Inuit people. | 25452324 |
| 2014-03-08 12:33:00 | SI mutations result in loss of enzyme function by preventing the biosynthesis of catalytically competent SI at the cell surface in lymphocytic leukemia | 23418305 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
SUIS_HUMAN
UniprotKB:
P14410
UniParc:
UPI000022C287
EMBL:
X63597,
BC116452,
M22616,
AC092695,
BC132834,
AC140119,
BC115034,
BC132860,
AC144561
Ensembl:
ENSG00000090402
KO:
hsa:6476
|
| Nucleutide sequences |
EMBL-CDS:
AAA60551.1,
AAI32861.1,
CAA45140.1,
AAI32835.1,
AAI16453.1,
AAI15035.1
Ensembl_TRS:
ENST00000264382
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000264382
RefSeq:
NP_001032.2,
XP_011511380.1
|
| Others |
UniRef100:
UniRef100_P14410
UniRef90:
UniRef90_P14410
UniRef50:
UniRef50_P14410
UniGene:
Hs.429596
CCDS:
CCDS3196.1
|
| {{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