InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Lmf1

Summary

InnateDB Protein

IDBP-273626.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Lmf1

Protein Name

lipase maturation factor 1

Synonyms

2400010G15Rik; AW822050; cld; Tmem112;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000112340

InnateDB Gene

IDBG-152357 (Lmf1)

Protein Structure

UniProt Annotation

Function

Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway. {ECO:0000269PubMed:17994020}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:17994020, ECO:0000269PubMed:19783858}; Multi- pass membrane protein {ECO:0000269PubMed:17994020, ECO:0000269PubMed:19783858}.

Disease Associations

Note=Defects in Lmf1 are the cause of combined lipase deficiency (cld). Cld is characterized by severe hypertriglyceridemia with accumulation of chylomicrons that gradually pack the lumina of capillaries and sinusoids. Severe hypertriglyceridemia causes an increase in blood viscosity, ischemia, and cyanosis, and the inability of tissues to access circulating triglycerides results in starvation, poor thermoregulation, and death 2 to 3 days after birth. The disorder is caused by a decrease in the activity of lipoprotein lipase (Lpl) and the related hepatic lipase (Lipc), caused by impaired maturation of nascent Lpl and hepatic lipase polypeptides in the endoplasmic reticulum.

Tissue Specificity

Expressed in all tissues synthesizing lipoprotein lipase (Lpl) and hepatic lipase (Lipc), including adipose tissue, skeletal muscle, heart, and liver. Expressed at higher levels in tissues that express little or no lipase activity such as testis and pancreas suggesting additional functions in these tissues. {ECO:0000269PubMed:17994020}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0006888	ER to Golgi vesicle-mediated transport
GO:0009306	protein secretion
GO:0033578	protein glycosylation in Golgi
GO:0034382	chylomicron remnant clearance
GO:0051006	positive regulation of lipoprotein lipase activity
GO:0051604	protein maturation
GO:0090181	regulation of cholesterol metabolic process
GO:0090207	regulation of triglyceride metabolic process