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LMAN1

Saturday 3 June 2006

LMAN1 is a membrane mannose-specific lectin identified in intracellular compartments. It is a protein marker of the intermediate compartment shuttling between the endoplasmic reticulum (ER) and the cis-Golgi apparatus.

The 510-amino acid LMAN1 protein has a calculated molecular mass of 54 kD and contains a N-terminal signal sequence, a transmembrane segment, and a short cytoplasmic domain with an ER retention motif.

The N-terminal carbohydrate recognition domains of LMAN1, LMAN2L (MIM.609552) and LMAN2 (MIM.609551) are highly conserved, particularly the motifs required for Ca(2+) and mannose binding and the 2 cysteines predicted to be disulfide bonded. The 3 proteins all have C-terminal ER retrieval motifs.

LMAN1 transcripts are detected in all tissues examined, with highest expression in skeletal muscle, kidney, liver, and placenta.

Pathology

- genetic diseases of intracellular-membrane transport

  • diseases affecting the protein-sorting apparatus
    • germline mutations of LMAN1 in combined deficiency of coagulation factors V and VIII

References

- Olkkonen VM, Ikonen E. Genetic defects of intracellular-membrane transport. N Engl J Med. 2000 Oct 12;343(15):1095-104. PMID: 11027745