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 have mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. Predicted to be involved in N-glycan processing and ubiquitin-dependent ERAD pathway. Predicted to localize to endoplasmic reticulum and membrane. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. 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