Recombinant Human Probable lysosomal cobalamin transporter (LMBRD1), Truncated

Uniprot Id

Q9NUN5

Target Species

Human

Target Name

LMBRD1

Target Full Name

Lysosomal cobalamin transport escort protein LMBD1

Target Function

Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors. Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome. Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane. Acts as an adapter protein which plays an important role in mediating and regulating the internalization of the insulin receptor (INSR). Involved in clathrin-mediated endocytosis of INSR via its interaction with adapter protein complex 2. Essential for the initiation of gastrulation and early formation of mesoderm structures during embryogenesis.; (Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV).

Target Involvement

Methylmalonic aciduria and homocystinuria type cblF (MMAHCF)

Target Subcellular Location

Endoplasmic reticulum membrane. Lysosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle, clathrin-coated vesicle.

Target Protein Families

LIMR family, LMBRD1 subfamily

Target Tissue Specificity

Isoform 3 is expressed in liver.

Target Synonyms

HDAg-L-interacting protein NESI; LMBD1_HUMAN; LMBR1 domain-containing protein 1; lmbrd1; Nuclear export signal-interacting protein; Probable lysosomal cobalamin transporter

Target Background

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.