Gene
si
- ID
- ZDB-GENE-030131-4622
- Name
- sucrase-isomaltase
- Symbol
- si Nomenclature History
- Previous Names
-
- fd42f04
- fd44a09
- wu:fd42f04
- wu:fd44a09
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in congenital sucrase-isomaltase deficiency. Orthologous to human SI (sucrase-isomaltase).
- Genome Resources
-
- Alliance (1)
- Gene:100148922 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital sucrase-isomaltase deficiency | Alliance | Sucrase-isomaltase deficiency, congenital | 222900 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR030458 | Glycosyl hydrolases family 31, active site |
| Conserved_site | IPR017957 | P-type trefoil, conserved site |
| Conserved_site | IPR030459 | Glycosyl hydrolases family 31, conserved site |
| Domain | IPR000322 | Glycoside hydrolase family 31, TIM barrel domain |
| Domain | IPR000519 | P-type trefoil domain |
| Domain | IPR025887 | Glycoside hydrolase family 31, N-terminal domain |
| Domain | IPR048395 | Glycosyl hydrolase family 31, C-terminal domain |
| Homologous_superfamily | IPR011013 | Galactose mutarotase-like domain superfamily |
| Homologous_superfamily | IPR013780 | Glycosyl hydrolase, all-beta |
| Homologous_superfamily | IPR017853 | Glycoside hydrolase superfamily |
| Homologous_superfamily | IPR044913 | P-type trefoil domain superfamily |
Domain Details Per Protein
| Protein | Length | Galactose mutarotase-like domain superfamily | Glycoside hydrolase family 31, N-terminal domain | Glycoside hydrolase family 31, TIM barrel domain | Glycoside hydrolase superfamily | Glycosyl hydrolase, all-beta | Glycosyl hydrolase family 31, C-terminal domain | Glycosyl hydrolases family 31, active site | Glycosyl hydrolases family 31, conserved site | P-type trefoil, conserved site | P-type trefoil domain | P-type trefoil domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M6Z206
|
1809 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance