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FLASH GENE

Symbol

LMF1

contributors: mct/npt - updated : 25-03-2020

HGNC name	lipase maturation factor 1
HGNC id	14154

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022773 11 - 2620 NP_073610 - 567 - 2018 30068531 NM_001352019 11 - 2878 NP_001338948 - 458 - 2018 30068531 NM_001352017 11 - 3030 NP_001338946 - 350 - 2018 30068531 NM_001352018 11 - 3033 NP_001338947 - 434 - 2018 30068531 NM_001352021 11 - 2660 NP_001338950 - 350 - 2018 30068531 NM_001352020 11 - 2055 NP_001338949 - 546 - 2018 30068531

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland       highly Nervous nerve cranial nerve       Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N terminus with critical role for the maturation of LPL and relevant ratio of chaperone to substrate

HOMOLOGY

interspecies

homolog to murine Tmem112 ( 79 pc)

Homologene

FAMILY

lipase maturation factor family

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	functions in the post-translational attainment of enzyme activity for both lipoprotein lipase and hepatic lipase (Doolittle 2009)
	involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum (Cefalu 2009)
	is believed to act as a client specific chaperone for dimeric lipases
	is a chaperone localized to the endoplasmic reticulum (ER) and required for the post-translational maturation and activation of several vascular lipases
	is an unfolded protein response target gene, and ATF6 signaling is sufficient and necessary for activation of the LMF1 promoter
	LMF1 has a broader role than simply folding lipases, and we identified fibronectin and the low-density lipoprotein receptor (LDLR) as novel LMF1 clients that contain multiple, non-sequential disulfide bonds
	is needed for secretion of some ER client proteins that require reduction of non-native disulfides during their folding
	is a protein essential for the maturation of lipoprotein lipase (LPL)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts physically with lipoprotein lipase and hepatic lipase and localizes the lipase interaction site to loop C within DUF1222 (Doolittle 2009)
	LPL activity in vivo depends on the endoplasmic reticulum-resident chaperone protein LMF1
	ATF6 is sufficient to induce the LMF1 promoter in the absence of ER stress, and this effect is mediated by the TM-responsive cis-regulatory element
	proper LPL folding and exit from the endoplasmic reticulum (ER) require lipase maturation factor 1 (LMF1), an ER-resident transmembrane protein
	LMF1 is an endoplasmic reticulum-resident chaperone protein that is required for proper folding and secretion of LPL

cell & other

REGULATION

induced by

its expression is induced by ER stress in various cell lines

ASSOCIATED DISORDERS

corresponding disease(s)

LPPLD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in hypertriglyceridemia with combined lipase deficiency

Susceptibility

to combined lipase deficiency with hypertriglyceridemia

Variant & Polymorphism

Candidate gene	an important candidate gene in hypertriglyceridemia
Marker
Therapy target

ANIMAL & CELL MODELS