LMBR1 domain containing 1
Ultimo aggiornamento 26 Lug 2023
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The LMBRD1 gene provides instructions for making a protein, called LMBD1, that is involved in the conversion of vitamin B12 (also known as cobalamin) into one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain protein building blocks (amino acids), fats (lipids), and cholesterol. AdoCbl is called a cofactor because it helps methylmalonyl CoA mutase carry out its function. MeCbl is also a cofactor, but for an enzyme known as methionine synthase. This enzyme converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
Normal function
The LMBRD1 gene provides instructions for making a protein, called LMBD1, that is involved in the conversion of vitamin B12 (also known as cobalamin) into one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain protein building blocks (amino acids), fats (lipids), and cholesterol. AdoCbl is called a cofactor because it helps methylmalonyl CoA mutase carry out its function. MeCbl is also a cofactor, but for an enzyme known as methionine synthase. This enzyme converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
The LMBD1 protein is found in the membrane that surrounds cell structures called lysosomes. Lysosomes are compartments within cells in which enzymes digest and recycle materials. In the lysosomal membrane, the LMBD1 protein interacts with another protein called ABCD4 (produced from the ABCD4 gene). Together, these two proteins transport vitamin B12 out of lysosomes, making it available for further processing into AdoCbl and MeCbl.
Studies suggest that the LMBD1 protein is also found in the membrane that surrounds the cell (the plasma membrane). Here, the protein appears to be involved in removing another protein called the insulin receptor from the membrane. Removal of this receptor helps regulate insulin signaling, which controls levels of blood glucose, also called blood sugar.
Another version (isoform) of the LMBD1 protein, sometimes called NESI, can also be produced from the LMBRD1 gene. This protein interacts with a region called the nuclear export signal (NES) of a protein that forms a piece of the hepatitis D virus. It is thought that interaction with NESI aids in the assembly of the virus. The hepatitis D virus can cause liver disease, although infection is rare and requires co-infection with a related virus called hepatitis B.
Conditions referring to this gene or chromosome
Altri nomi
bA810I22.1
C6orf209
cblF
FLJ11240
HDAg-L-interacting protein NESI
hepatitis delta antigen-L interacting protein
liver regeneration p-53 related protein
LMBD1
MAHCF
NESI
nuclear export signal-interacting protein
probable lysosomal cobalamin transporter
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Ulteriori letture e riferimenti
- LMBR1 domain containing 1; MedlinePlus, National Library of Medicine.
- Deme JC, Hancock MA, Xia X, Shintre CA, Plesa M, Kim JC, Carpenter EP, Rosenblatt DS, Coulton JW. Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4. Mol Membr Biol. 2014 Nov-Dec;31(7-8):250-61. doi: 10.3109/09687688.2014.990998.
- Huang C, Jiang JY, Chang SC, Tsay YG, Chen MR, Chang MF. Nuclear export signal-interacting protein forms complexes with lamin A/C-Nups to mediate the CRM1-independent nuclear export of large hepatitis delta antigen. J Virol. 2013 Feb;87(3):1596-604. doi: 10.1128/JVI.02357-12. Epub 2012 Nov 21.
- Rutsch F, Gailus S, Suormala T, Fowler B. LMBRD1: the gene for the cblF defect of vitamin B(1)(2) metabolism. J Inherit Metab Dis. 2011 Feb;34(1):121-6. doi: 10.1007/s10545-010-9083-9. Epub 2010 May 6.
- Tseng LT, Lin CL, Tzen KY, Chang SC, Chang MF. LMBD1 protein serves as a specific adaptor for insulin receptor internalization. J Biol Chem. 2013 Nov 8;288(45):32424-32432. doi: 10.1074/jbc.M113.479527. Epub 2013 Sep 27.
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