Property Summary

NCBI Gene PubMed Count 16
Grant Count 20
R01 Count 5
Funding $7,629,406.24
PubMed Score 20.13
PubTator Score 10.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
osteosarcoma -2.720 0.000
glioblastoma -1.100 0.014
medulloblastoma -1.300 0.001
medulloblastoma, large-cell -2.200 0.000
tuberculosis and treatment for 3 months 1.300 0.000
intraductal papillary-mucinous neoplasm ... 1.200 0.002
lung cancer -1.600 0.002
ovarian cancer -1.400 0.000
pituitary cancer 1.100 0.000

Gene RIF (6)

PMID Text
24909692 Thus we provide evidence for the critical role of the N-terminus of LMF1 for the maturation of LPL and relevant ratio of chaperone to substrate.
21447484 Lipase maturation factor 1 (Lmf1) is required for endothelial lipase activity. Mutations in Lmf1 result in severe hypertriglyceridemia in mice as well as in human subjects.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19820022 Second novel pathogenic mutation in LMF1 gene in a patient with severe hypertriglyceridemia.
19783858 Data show that shows the arrangement of an evolutionarily conserved domain within LMF1 (DUF1222) that is essential to lipase maturation.
19471043 Results show that cotransfection of LPL with wild-type Lmf1 restores its ability to support normal lipase maturation.

AA Sequence

MRPDSPTMAAPAESLRRRKTGYSDPEPESPPAPGRGPAGSPAHLHTGTFWLTRIVLLKALAFVYFVAFLV      1 - 70
AFHQNKQLIGDRGLLPCRVFLKNFQQYFQDRTSWEVFSYMPTILWLMDWSDMNSNLDLLALLGLGISSFV     71 - 140
LITGCANMLLMAALWGLYMSLVNVGHVWYSFGWESQLLETGFLGIFLCPLWTLSRLPQHTPTSRIVLWGF    141 - 210
RWLIFRIMLGAGLIKIRGDRCWRDLTCMDFHYETQPMPNPVAYYLHHSPWWFHRFETLSNHFIELLVPFF    211 - 280
LFLGRRACIIHGVLQILFQAVLIVSGNLSFLNWLTMVPSLACFDDATLGFLFPSGPGSLKDRVLQMQRDI    281 - 350
RGARPEPRFGSVVRRAANVSLGVLLAWLSVPVVLNLLSSRQVMNTHFNSLHIVNTYGAFGSITKERAEVI    351 - 420
LQGTASSNASAPDAMWEDYEFKCKPGDPSRRPCLISPYHYRLDWLMWFAAFQTYEHNDWIIHLAGKLLAS    421 - 490
DAEALSLLAHNPFAGRPPPRWVRGEHYRYKFSRPGGRHAAEGKWWVRKRIGAYFPPLSLEELRPYFRDRG    491 - 560
WPLPGPL                                                                   561 - 567
//

Text Mined References (17)

PMID Year Title
24909692 2014 Purification, cellular levels, and functional domains of lipase maturation factor 1.
23446634 2013 Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
21447484 2011 Lipase maturation factor 1 is required for endothelial lipase activity.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19820022 2009 Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.
19783858 2009 Lipase maturation factor LMF1, membrane topology and interaction with lipase proteins in the endoplasmic reticulum.
19471043 2009 A quantitative assay measuring the function of lipase maturation factor 1.
17994020 2007 Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
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