LMAN1L
Lectin, Mannose Binding 1 Like
Gene Information Card
| Symbol | LMAN1L |
|---|---|
| Full Name | Lectin, Mannose Binding 1 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 79762 ncbi.nlm.nih.gov/gene/79762 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9H0L4 |
| OMIM ID | 611551 |
| HGNC ID | 24811 |
| Aliases | ERGL, MCFD2L |
Description
LMAN1L (Lectin, Mannose Binding 1 Like) encodes a type I transmembrane protein localized to the endoplasmic reticulum (ER). It functions as a cargo receptor for the ER-to-Golgi transport of glycoproteins, similar to LMAN1. The protein forms a complex with MCFD2 and is involved in the secretion of coagulation factors V and VIII. LMAN1L is broadly expressed in various tissues, with highest levels in the pancreas and salivary glands.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined factor V and factor VIII deficiency | Deficiency in LMAN1L may impair secretion of coagulation factors V and VIII, leading to bleeding disorder | Limited evidence; primarily associated with LMAN1 mutations |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 28.5 | High |
| Salivary gland | 22.3 | High |
| Liver | 10.1 | Medium |
| Kidney | 8.7 | Medium |
| Lung | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | Moderate expression |
| HeLa | 12.1 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
| K562 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
| c.100C>T | nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons likely result in loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi transport | • mannose binding |
| • protein transport | • endoplasmic reticulum |
| • Golgi apparatus |
Pathways
• ER-to-Golgi vesicle-mediated transport
• Coagulation factor transport
Protein Summary
LMAN1L is a 461-amino acid type I transmembrane protein with a luminal mannose-binding lectin domain and a short cytoplasmic tail. It localizes to the ER and cycles between ER and Golgi. The protein forms a heteromeric complex with MCFD2 to facilitate the transport of glycoproteins, including coagulation factors V and VIII. LMAN1L shares structural and functional homology with LMAN1 but has distinct tissue distribution.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LMAN1L Knockout HEK293 Cell Line | EDJ-KQ10657 | Human | 79748 | 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 |
