LMF1 (lipase maturation factor 1)

2014-08-01  

Identity

HGNC
LMF1
LOCATION
16p13.3
LOCUSID
64788
ALIAS
C16orf26,HMFN1876,JFP11,TMEM112,TMEM112A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64788
MIM: 611761
HGNC: 14154
Ensembl: ENSG00000103227

Variants:

dbSNP: 64788
ClinVar: 64788
TCGA: ENSG00000103227
COSMIC: LMF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103227ENST00000262301Q96S06
ENSG00000103227ENST00000543238Q96S06
ENSG00000103227ENST00000545827F5H802
ENSG00000103227ENST00000562226B4DFZ0
ENSG00000103227ENST00000562380H3BQC9
ENSG00000103227ENST00000565276H3BQT4
ENSG00000103227ENST00000566627H3BP58
ENSG00000103227ENST00000567595H3BUN8
ENSG00000103227ENST00000568897H3BVI4
ENSG00000103227ENST00000568964H3BSB7
ENSG00000103227ENST00000570014H3BN37

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Digestion of dietary lipidREACTOMER-HSA-192456

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
198200222009Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.17
285341272017Genetics of Triglycerides and the Risk of Atherosclerosis.16
194710432009A quantitative assay measuring the function of lipase maturation factor 1.9
300375902018New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.4
308852192019Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking.4
249096922014Purification, cellular levels, and functional domains of lipase maturation factor 1.3
300685312018Lipase maturation factor 1 affects redox homeostasis in the endoplasmic reticulum.3
299102262019A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient.2
258177682015[Identification of variants in LMF1 gene associated with primary hypertriglyceridemia].0

Citation

Dessen P

LMF1 (lipase maturation factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54425/lmf1