Lmbrd1 Gene Summary [Mouse]
Enables AP-2 adaptor complex binding activity; clathrin heavy chain binding activity; and insulin receptor binding activity. Involved in clathrin-dependent endocytosis; gastrulation; and insulin receptor internalization. Located in clathrin-coated endocytic vesicle; lysosome; and plasma membrane. Is expressed in several structures, including extraembryonic component; hepatic primordium; liver; neural ectoderm; and primitive streak. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblF. Orthologous to human LMBRD1 (LMBR1 domain containing 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Lmbrd1 |
| Official Name | LMBR1 domain containing 1 [Source:MGI Symbol;Acc:MGI:1915671] |
| Ensembl ID | ENSMUSG00000073725 |
| Bio databases IDs | |
| Aliases | LMBR1 domain containing 1 |
| Synonyms | 0910001K20RIK, C6orf209, LMBD1, LMBR1 domain containing 1, LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1, LOC246046, MAHCF, NESI |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Lmbrd1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- insulin receptor binding
- binding protein
- LMBR1-like membrane protein
- clathrin binding
- protein binding
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- growth failure
- methylmalonic aciduria with homocystinuria cblF type
- hereditary disorder
- sensory neuropathy
- methylmalonic aciduria with homocystinuria cblC type
- gastrulation failure
- nonalcoholic fatty liver disease
- global developmental delay with intellectual disability
- colon cancer
- preeclampsia
regulates
- AKT
- INSR
- fludeoxyglucose F 18
role in cell
- signaling in
- endocytosis by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- Plasma Membrane
- lysosome
- endoplasmic reticulum membrane
- lysosome membrane
- endocytotic vesicle
- clathrin-coated vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Lmbrd1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- clathrin-mediated endocytosis
- insulin receptor internalization
- gastrulation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- intracellular membrane-bounded organelle
- membrane
- clathrin-coated endocytic vesicle
- clathrin-coated vesicle
- lysosomal membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- clathrin heavy chain binding
- protein binding
- cobalamin binding
- insulin receptor binding
- AP-2 adaptor complex binding