Lmbrd1 - LMBR1 domain containing 1 Gene
Also Known as LMBD1; 0910001K20Rik
Species: Mus musculus
Summary
Enables AP-2 adaptor complex binding activity; clathrin heavy chain binding activity; and Insulin Receptor binding activity. Involved in clathrin-dependent endocytosis and gastrulation. Acts upstream of or within Insulin Receptor internalization; negative regulation of glucose import; and negative regulation of signal transduction. Located in clathrin-coated endocytic vesicle; lysosome; and plasma membrane. Is expressed in embryo; extraembryonic component; neural fold; 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, Apr 2022]
Lmbrd1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001310483.1 | NP_001297412.1 | lysosomal cobalamin transport escort protein LMBD1 isoform 2 |
| NM_026719.2 | NP_080995.2 | lysosomal cobalamin transport escort protein LMBD1 isoform 1 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables AP-2 adaptor complex binding |
IMP
IMP: Inferred from mutant phenotype
|
24078630 | MGI |
| enables clathrin heavy chain binding |
IDA
IDA: Inferred from direct assay
|
24078630 | MGI |
| enables insulin receptor binding |
IDA
IDA: Inferred from direct assay
|
24078630 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
24078630 | MGI |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in clathrin-dependent endocytosis |
IMP
IMP: Inferred from mutant phenotype
|
24078630 | MGI |
| involved in gastrulation |
IMP
IMP: Inferred from mutant phenotype
|
27061115 | MGI |
| involved in insulin receptor internalization |
IMP
IMP: Inferred from mutant phenotype
|
24078630 | MGI |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in clathrin-coated endocytic vesicle |
IDA
IDA: Inferred from direct assay
|
24078630 | MGI |
| located in clathrin-coated vesicle |
IDA
IDA: Inferred from direct assay
|
24078630 | MGI |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
24078630 | MGI |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
24078630 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
lysosomal cobalamin transport escort protein LMBD1 |
|
|