MLEC (malectin)

2014-11-01  

Identity

HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
KIAA0152
FUSION GENES

Other Information

Locus ID:

NCBI: 9761
MIM: 613802
HGNC: 28973
Ensembl: ENSG00000110917

Variants:

dbSNP: 9761
ClinVar: 9761
TCGA: ENSG00000110917
COSMIC: MLEC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110917ENST00000228506Q14165
ENSG00000110917ENST00000412616F5GX14
ENSG00000110917ENST00000535656H0YG07
ENSG00000110917ENST00000545525F5H1S8

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycleREACTOMER-HSA-532668
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

References

Pubmed IDYearTitleCitations
185248522008Malectin: a novel carbohydrate-binding protein of the endoplasmic reticulum and a candidate player in the early steps of protein N-glycosylation.87
203472652010MicroRNAs and target site screening reveals a pre-microRNA-30e variant associated with schizophrenia.34
229882432012Malectin forms a complex with ribophorin I for enhanced association with misfolded glycoproteins.24
218137362011Role of malectin in Glc(2)Man(9)GlcNAc(2)-dependent quality control of α1-antitrypsin.20
254512652014Association of malectin with ribophorin I is crucial for attenuation of misfolded glycoprotein secretion.9
289722762018Malectin gene polymorphisms promote cerebral palsy via M2-like macrophage polarization.1

Citation

Dessen P

MLEC (malectin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70338/mlec