Gene
lmbrd1
- ID
- ZDB-GENE-041212-36
- Name
- LMBR1 domain containing 1
- Symbol
- lmbrd1 Nomenclature History
- Previous Names
-
- fc08a03
- wu:fc08a03
- zgc:103471 (1)
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable cobalamin binding activity. Predicted to be involved in protein localization to lysosome. Predicted to act upstream of or within insulin receptor internalization. Predicted to be located in clathrin-coated endocytic vesicle; endoplasmic reticulum membrane; and plasma membrane. Predicted to be active in lysosomal membrane. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblF. Orthologous to human LMBRD1 (LMBR1 domain containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7138599 (1 image)
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 |
|---|---|---|---|
| methylmalonic aciduria and homocystinuria type cblF | Alliance | Methylmalonic aciduria and homocystinuria, cblF type | 277380 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | LMBR1-like membrane protein | Lysosomal Cobalamin Transport Escort Protein LMBD1 |
|---|---|---|---|
|
UniProtKB:Q5PR61
|
541 | ||
|
UniProtKB:B8JJQ8
|
213 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
lmbrd1-201
(1)
|
Ensembl | 740 nt | ||
| mRNA |
lmbrd1-203
(1)
|
Ensembl | 2,337 nt | ||
| ncRNA |
lmbrd1-002
(1)
|
Ensembl | 353 nt | ||
| ncRNA |
lmbrd1-004
(1)
|
Ensembl | 914 nt |
Interactions and Pathways
No data available
Plasmids
No data available