2. Gene
  3. Lmbrd1 - LMBR1 domain containing 1 Gene

Lmbrd1 - LMBR1 domain containing 1 Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as LMBD1; 0910001K20Rik

Gene ID: 68421 | Gene type: protein coding

About Lmbrd1

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

lysosomal cobalamin transport escort protein LMBD1

LMBR1 domain-containing protein 1

probable lysosomal cobalamin transporter

protein N90b

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07708 LMBRD1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Lmbrd1 NCBI NCBI:55788