Gene
man1b1a
- ID
- ZDB-GENE-091116-34
- Name
- mannosidase, alpha, class 1B, member 1a
- Symbol
- man1b1a Nomenclature History
- Previous Names
-
- si:ch211-181b18.1
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. Predicted to be involved in ERAD pathway. Predicted to act upstream of or within carbohydrate metabolic process. Predicted to be active in endoplasmic reticulum and membrane. Human ortholog(s) of this gene implicated in Rafiq syndrome. Orthologous to human MAN1B1 (mannosidase alpha class 1B member 1).
- Genome Resources
- 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 |
|---|---|---|---|
| Rafiq syndrome | Alliance | Rafiq syndrome | 614202 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Glycoside hydrolase family 47 | Glycosyl Hydrolase Family 47 | Seven-hairpin glycosidases | Six-hairpin glycosidase-like superfamily |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PIT1
|
671 | ||||
|
UniProtKB:A0A8M9PD98
|
682 | ||||
|
UniProtKB:E7F4N5
|
682 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
man1b1a-201
(1)
|
Ensembl | 2,795 nt | ||
| mRNA |
man1b1a-202
(1)
|
Ensembl | 2,188 nt |
Interactions and Pathways
No data available
Plasmids
No data available