LMBRD1 Gene Summary [Human]
This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | LMBRD1 |
| Official Name | LMBR1 domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23038] |
| Ensembl ID | ENSG00000168216 |
| 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 | Human, Homo sapiens |
| 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 human 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
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 human 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