Identity
HGNC
LOCATION
18q21.32
LOCUSID
ALIAS
ERGIC-53,ERGIC53,F5F8D,FMFD1,MCFD1,MR60,gp58
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3998
MIM: 601567
HGNC: 6631
Ensembl: ENSG00000074695
Variants:
dbSNP: 3998
ClinVar: 3998
TCGA: ENSG00000074695
COSMIC: LMAN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000074695 | ENST00000251047 | P49257 |
| ENSG00000074695 | ENST00000251047 | A0A024R2A7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36870056 | 2023 | LMAN1 is a receptor for house dust mite allergens. | 3 |
| 36870056 | 2023 | LMAN1 is a receptor for house dust mite allergens. | 3 |
| 34766420 | 2022 | A distinct common p.Gln317* mutation among causative LMAN1 genetic mutations of combined factor V and factor VIII deficiency in five Taiwanese families. | 2 |
| 35322856 | 2022 | LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of α1-antitrypsin. | 8 |
| 34766420 | 2022 | A distinct common p.Gln317* mutation among causative LMAN1 genetic mutations of combined factor V and factor VIII deficiency in five Taiwanese families. | 2 |
| 35322856 | 2022 | LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of α1-antitrypsin. | 8 |
| 30728747 | 2019 | Mannan-Binding Lectin Suppresses Peptidoglycan-Induced TLR2 Activation and Inflammatory Responses. | 13 |
| 30728747 | 2019 | Mannan-Binding Lectin Suppresses Peptidoglycan-Induced TLR2 Activation and Inflammatory Responses. | 13 |
| 29082580 | 2018 | Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family. | 0 |
| 29679592 | 2018 | Multiple coagulation factor deficiency protein 2 as a crucial component in metastasis of human oral cancer. | 9 |
| 29082580 | 2018 | Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family. | 0 |
| 29679592 | 2018 | Multiple coagulation factor deficiency protein 2 as a crucial component in metastasis of human oral cancer. | 9 |
| 28097447 | 2017 | Mannose-binding lectin (MBL) codon 54 (rs1800450) polymorphism predisposes towards medium vessel vasculitis in patients with systemic lupus erythematosus. | 1 |
| 28097447 | 2017 | Mannose-binding lectin (MBL) codon 54 (rs1800450) polymorphism predisposes towards medium vessel vasculitis in patients with systemic lupus erythematosus. | 1 |
| 25664598 | 2015 | Mannan-binding lectin reduces CpG DNA-induced inflammatory cytokine production by human monocytes. | 7 |
Citation
Dessen P
LMAN1 (lectin, mannose binding 1)
Atlas Genet Cytogenet Oncol Haematol. 2008-07-01
Online version: http://atlasgeneticsoncology.org/gene/50158/lman1
