LMF1 - lipase maturation factor 1 Gene

Homo sapiens

Also known as JFP11; TMEM112; C16orf26; HMFN1876; TMEM112A

Gene ID: 64788 | Gene type: protein coding

About LMF1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:853,634-981,613 (from NCBI)

This gene has 17 transcripts (splice variants), 221 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in brain (RPKM 6.7), salivary gland (RPKM 2.6) and 25 other tissues.

Summary

Involved in triglyceride metabolic process. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in familial Lipase maturation factor 1 deficiency. [provided by Alliance of Genome Resources, Apr 2022]

LMF1 Products(6)

mRNA	Protein	Name
NM_001352017.2	NP_001338946.1	lipase maturation factor 1 isoform 2
NM_001352018.2	NP_001338947.1	lipase maturation factor 1 isoform 3
NM_001352019.2	NP_001338948.1	lipase maturation factor 1 isoform 4
NM_001352020.1	NP_001338949.1	lipase maturation factor 1 isoform 5
NM_001352021.2	NP_001338950.1	lipase maturation factor 1 isoform 2
NM_022773.4	NP_073610.2	lipase maturation factor 1 isoform 1

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Reference	Source
involved in triglyceride metabolic process	IMP IMP: Inferred from mutant phenotype	17994020	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LMF1 Protein Structure

LMF1

0
100
200
300
400
500
567 a.a.

Protein Preferred Names

Protein Names

lipase maturation factor 1

transmembrane protein 112

Related Diseases

Diseases

Alias

Lipase Deficiency, Combined

Lipoprotein Lipase Deficiency With Hepatic Triglyceride Lipase Deficiency	Lpl And Htgl Deficiency
Lpl And Hl Deficiency	Familial Lipase Maturation Factor 1 Deficiency
Lipase Deficiency Combined	Combined Lipase Deficiency
Familial Lmf1 Deficiency	CLD

Hyperlipoproteinemia, Type I

Lipoprotein Lipase Deficiency	Familial Chylomicronemia Syndrome
Lpl Deficiency	Hyperchylomicronemia, Familial
Hyperlipemia, Idiopathic, Burger-Grutz Type	Hyperlipemia, Essential Familial
Lipase D Deficiency	Lipd Deficiency
Hyperlipoproteinemia, Type Ia	Chylomicronemia, Familial
High Density Lipoprotein Cholesterol Level Qtl 11	Hyperlipoproteinemia Type 1
Hyperlipoproteinemia 1	HLPP1
Lipoprotein Lipase	Hyperlipoproteinemia Type I
Familial Hyperchylomicronemia Syndrome

Pancreatitis

Mumps Pancreatitis

Hyperlipoproteinemia, Type Iv

Hyperlipoproteinemia Type Iv	Carbohydrate-Inducible Hyperlipemia
Endogenous Hyperlipidaemia	Familial Hypertriglyceridemia
Fredrickson Type Iv Hyperlipoproteinemia	Fredrickson Type Iv Lipidaemia
Fredrickson Type Iv Lipidemia	Vldl Hyperlipoproteinemia
Hyperlipoproteinemia Type 4	Carbohydrate Inducible Hyperlipemia
Familial Type Iv Hyperlipoproteinemia	Familial Hyperlipoproteinemia Type Iv

Familial Lipoprotein Lipase Deficiency

Familial Lpl Deficiency	Familial Hyperchylomicronemia
Hyperlipoproteinemia Type I	Familial Hyperlipoproteinemia Type I
Hyperchylomicronemia	Burger-Grutz Syndrome
Endogenous Hypertriglyceridaemia	Familial Fat-Induced Hypertriglyceridemia
Lipd Deficiency	Lpl Deficiency
Lipase D Deficiency	Lipoprotein Lipase Deficiency, Familial
Familial Chylomicronemia Syndrome	Fredrickson Type I Hyperlipoproteinemia
Fredrickson Type I Lipaemia	Hypercholesterinaemic Xanthomatosis
Mixed Hyperglyceridemia	Lipoprotein Lipase Deficiency
Type I Hyperlipoproteinemia	Hyperlipoproteinemia Type Ia
Familial Hyperlipo-Proteinemia Type 1

Familial Hyperlipidemia

Familial Hyperlipoproteinemia	Hyperlipidaemia
Hyperlipoproteinemias	Hyperlipidemia
Hyperlipemia	Hyperlipidemias

Familial Apolipoprotein C-Ii Deficiency

Familial Apoc-Ii Deficiency	Familial Apoc2 Deficiency
C-Ii Anapolipoproteinemia	Hyperlipoproteinemia, Type 1b
Hyperlipoproteinemia, Type Ib	Hyperlipoproteinemia Type I

Hypobetalipoproteinemia, Familial, 1

Hypobetalipoproteinemia	Familial Hypobetalipoproteinemia 1
Familial Hypobetalipoproteinemia	FHBL1
Hypobetalipoproteinemia, Familial	Fhbl
Acanthocytosis With Hypobetalipoproteinemia	Hypobetalipoproteinemias
Hypobetalipoproteinemia, Normotriglyceridemic	Hypo-Beta-Lipoproteinemia
Hypobetalipoprotéinemia, Familial	Normotriglyceridemic Hypobetalipoproteinemia
Hypobetalipoproteinemia, Familial, Type 1

Hypoalphalipoproteinemia, Primary, 1

Familial Hdl Deficiency	Fha
High Density Lipoprotein Deficiency	Familial Hypoalphalipoproteinemia
Hypoalphalipoproteinemia, Familial	Hdld
Fhd	Hdl Deficiency, Type 2
Primary Hypoalphalipoproteinemia 1	Hdl Cholesterol, Low Serum
Hdlc	Hdl Deficiency, Familial, 1
Hypoalphalipoproteinemia, Primary	Low Serum Hdl Cholesterol
Primary Hypoalphalipoproteinemia	FHA1
Hdld2	High Density Lipoprotein Deficiency 2
Hypoalphalipoproteinemias	Apolipoprotein A-I Deficiency

Hyperlipidemia, Familial Combined, 3

Familial Combined Hyperlipidemia	Combined Hyperlipidemia, Familial
Mixed Hyperlipidaemia	FCHL3
Hyperlipidemia, Familial Combined	Familial Multiple Lipoprotein-Type Hyperlipidemia
Hyperbetalipoproteinemia With Prebetalipoproteinemia	Type Iib Hyperlipoproteinemia
Hyperlipidemia Familial Combined	Hyperlipoproteinemia Type Iib
Mixed Hyperlipemia	Hyperlipidaemia, Group C
Familial Hypercholesterolaemia With Hyperlipaemia	Familial Hyperbetalipoproteinaemia And Hyperprebetalipoproteinaemia
Hyperbetalipoproteinaemia With Prebetalipoproteinaemia	Hypercholesterolaemia With Endogenous Hyperglyceridaemia
Prebetalipoproteinemia Hyperbetalipoproteinaemia	Remnant Hyperlipoproteinemia

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07711	LMF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	LMF1	VGNC	VGNC:84515
Rattus norvegicus	LMF1	RGD	RGD:1310180
Macaca mulatta	LMF1	VGNC	VGNC:84516
Mus musculus	LMF1	MGD	MGI:1923733
Felis catus	LMF1	VGNC	VGNC:97481
Canis familiaris	LMF1	VGNC	VGNC:54038

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