LMAN1

Chr 18q21.32

lectin, mannose binding 1

Aliases:: MR60, ERGIC-53, ERGIC53, gp58, MCFD1
MANE:: ENST00000251047.6

OMIM: 601567 ↗NCBI: 3998 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LMAN1 · P49257

v62025-08-01

Predicted Aligned Error matrix for LMAN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.4/ 100

Confident

510 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)28%
Low(50–70)11%
Very low(< 50)15%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
Combined factor V and VIII deficiency
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

factor V and factor VIII, combined deficiency of, type 1
0.73
combined deficiency of factor V and factor VIII
0.64
retinitis pigmentosa
0.34
neurodegenerative disease
0.32
respiratory tract infectious disorder
0.23
hereditary disease
0.19
hypothyroidism
0.15
Abnormality of the skeletal system
0.15
factor V deficiency
0.12
hemophilia A
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein ERGIC-53

Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins