LMAN1 Gene - Lectin, Mannose Binding 1
A key gene in glycoprotein quality control and coagulation factor transport
Gene Information Card
| Symbol | LMAN1 |
|---|---|
| Full Name | Lectin, Mannose Binding 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q21.32 |
| NCBI Gene ID | 3998 ncbi.nlm.nih.gov/gene/3998 |
| Ensembl ID | ENSG00000101558 |
| UniProt ID | P49257 |
| OMIM ID | 601567 |
| HGNC ID | 6631 |
| Aliases | ERGIC-53, F5F8D, gp58, MR60, MCFD2 |
Description
LMAN1 encodes a type I transmembrane lectin that cycles between the endoplasmic reticulum (ER) and the ER-Golgi intermediate compartment (ERGIC). It functions as a cargo receptor for the transport of glycoproteins, including coagulation factors V and VIII, from the ER to the Golgi. Mutations in LMAN1 cause combined deficiency of factor V and factor VIII (F5F8D), an autosomal recessive bleeding disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined deficiency of factor V and factor VIII (F5F8D) | Loss-of-function mutations in LMAN1 impair the ER-to-Golgi transport of factor V and factor VIII, leading to reduced plasma levels of both coagulation factors. | ClinVar, OMIM |
| Bleeding disorder | Deficiency of LMAN1 results in defective secretion of factor V and factor VIII, causing a mild-to-moderate bleeding tendency. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Pancreas | 8.2 | Medium |
| Kidney | 6.1 | Medium |
| Lung | 5.3 | Medium |
| Heart | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| HeLa | 10.5 | Cervical adenocarcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
| K562 | 6.2 | Chronic myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.121C>T (p.Arg41*) | Nonsense | Rare | Loss of function; associated with F5F8D |
| c.823G>A (p.Gly275Arg) | Missense | Rare | Impaired protein folding and transport |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation |
| c.1135_1136delAG | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most LMAN1 mutations are loss-of-function, leading to reduced or absent protein activity and impaired glycoprotein transport.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; F5F8D is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Transport of glycoproteins from ER to Golgi (Reactome: R-HSA-204005)
• Coagulation system (Reactome: R-HSA-109582)
Protein Summary
LMAN1 is a 510-amino acid type I transmembrane protein localized to the ER-Golgi intermediate compartment (ERGIC). It forms a complex with MCFD2 to function as a cargo receptor for the selective transport of glycoproteins, including coagulation factors V and VIII. The protein contains a carbohydrate recognition domain (CRD) that binds high-mannose oligosaccharides. Loss of LMAN1 function leads to combined deficiency of factor V and factor VIII.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LMAN1 Knockout HEK293 Cell Line | EDJ-KQ3296 | Human | 3998 | Details Get a Quote |
| LMAN1L Knockout HEK293 Cell Line | EDJ-KQ10657 | Human | 79748 | Details Get a Quote |
| LMAN1 Knockout A-549 Cell Line | EDJ-KQ26219 | Human | 3998 | Details Get a Quote |
| LMAN1 Knockout HCT 116 Cell Line | EDJ-KQ26221 | Human | 3998 | Details Get a Quote |
| LMAN1 Knockout HeLa Cell Line | EDJ-KQ26222 | Human | 3998 | Details Get a Quote |
| LMAN1L Knockout HeLa Cell Line | EDJ-KQ57218 | Human | 79748 | Details Get a Quote |
| LMAN1L Knockout A-549 Cell Line | EDJ-KQ65733 | Human | 79748 | Details Get a Quote |
| LMAN1L Knockout HCT 116 Cell Line | EDJ-KQ74150 | Human | 79748 | Details Get a Quote |
