Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64788
Gene name	Lipase maturation factor 1
Gene symbol	LMF1
Synonyms (NCBI Gene)	C16orf26HMFN1876JFP11TMEM112TMEM112A
Chromosome	16
Chromosome location	16p13.3

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909397	G>A,C	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, stop gained
rs587777626	C>T	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant

Show/Hide all (43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036691	hsa-miR-935	CLASH	23622248
MIRT1111505	hsa-miR-1207-5p	CLIP-seq
MIRT1111506	hsa-miR-1254	CLIP-seq
MIRT1111507	hsa-miR-144	CLIP-seq
MIRT1111508	hsa-miR-2861	CLIP-seq
MIRT1111509	hsa-miR-296-5p	CLIP-seq
MIRT1111510	hsa-miR-299-3p	CLIP-seq
MIRT1111511	hsa-miR-3116	CLIP-seq
MIRT1111512	hsa-miR-3151	CLIP-seq
MIRT1111513	hsa-miR-3192	CLIP-seq
MIRT1111514	hsa-miR-3620	CLIP-seq
MIRT1111515	hsa-miR-3690	CLIP-seq
MIRT1111516	hsa-miR-3918	CLIP-seq
MIRT1111517	hsa-miR-4300	CLIP-seq
MIRT1111518	hsa-miR-4308	CLIP-seq
MIRT1111519	hsa-miR-4447	CLIP-seq
MIRT1111520	hsa-miR-4472	CLIP-seq
MIRT1111521	hsa-miR-4501	CLIP-seq
MIRT1111522	hsa-miR-4504	CLIP-seq
MIRT1111523	hsa-miR-4512	CLIP-seq
MIRT1111524	hsa-miR-4726-3p	CLIP-seq
MIRT1111525	hsa-miR-4763-3p	CLIP-seq
MIRT1111526	hsa-miR-4764-5p	CLIP-seq
MIRT1111527	hsa-miR-491-5p	CLIP-seq
MIRT1111528	hsa-miR-541	CLIP-seq
MIRT1111529	hsa-miR-549	CLIP-seq
MIRT1111530	hsa-miR-654-5p	CLIP-seq
MIRT1111531	hsa-miR-661	CLIP-seq
MIRT1111532	hsa-miR-711	CLIP-seq
MIRT1111533	hsa-miR-920	CLIP-seq
MIRT2031135	hsa-miR-4505	CLIP-seq
MIRT2031136	hsa-miR-4646-5p	CLIP-seq
MIRT2261873	hsa-miR-1292	CLIP-seq
MIRT2261874	hsa-miR-3064-5p	CLIP-seq
MIRT2261875	hsa-miR-3652	CLIP-seq
MIRT2261876	hsa-miR-3661	CLIP-seq
MIRT2261877	hsa-miR-4430	CLIP-seq
MIRT2261878	hsa-miR-4471	CLIP-seq
MIRT2031135	hsa-miR-4505	CLIP-seq
MIRT2031136	hsa-miR-4646-5p	CLIP-seq
MIRT2261879	hsa-miR-492	CLIP-seq
MIRT2261880	hsa-miR-631	CLIP-seq
MIRT2453073	hsa-miR-3944-5p	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006641	Process	Triglyceride metabolic process	IMP	17994020
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IEA
GO:0009306	Process	Protein secretion	IEA
GO:0016020	Component	Membrane	IEA
GO:0034382	Process	Chylomicron remnant clearance	IEA
GO:0051604	Process	Protein maturation	IBA
GO:0051604	Process	Protein maturation	IEA
GO:0051604	Process	Protein maturation	IEA
GO:0090181	Process	Regulation of cholesterol metabolic process	IEA
GO:0090207	Process	Regulation of triglyceride metabolic process	IEA

MIM	HGNC	e!Ensembl
611761	14154	ENSG00000103227

Q96S06

Protein name

Lipase maturation factor 1 (Transmembrane protein 112)

Protein 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. Each LMF1 molecule chaperones 50 or more molecules of LPL. {ECO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06762	LMF1	169 → 380	Lipase maturation factor	Family
PF06762	LMF1	359 → 549	Lipase maturation factor	Family

Sequence

MRPDSPTMAAPAESLRRRKTGYSDPEPESPPAPGRGPAGSPAHLHTGTFWLTRIVLLKAL
AFVYFVAFLVAFHQNKQLIGDRGLLPCRVFLKNFQQYFQDRTSWEVFSYMPTILWLMDWS
DMNSNLDLLALLGLGISSFVLITGCANMLLMAALWGLYMSLVNVGHVWYSFGWESQLLET
GFLGIFLCPLWTLSRLPQHTPTSRIVLWGFRWLIFRIMLGAGLIKIRGDRCWRDLTCMDF
HYETQPMPNPVAYYLHHSPWWFHRFETLSNHFIELLVPFFLFLGRRACIIHGVLQILFQA
VLIVSGNLSFLNWLTMVPSLACFDDATLGFLFPSGPGSLKDRVLQMQRDIRGARPEPRFG
SVVRRAANVSLGVLLAWLSVPVVLNLLSSRQVMNTHFNSLHIVNTYGAFGSITKERAEVI
LQGTASSNASAPDAMWEDYEFKCKPGDPSRRPCLISPYHYRLDWLMWFAAFQTYEHNDWI
IHLAGKLLASDAEALSLLAHNPFAGRPPPRWVRGEHYRYKFSRPGGRHAAEGKWWVRKRI
GAYFPPLSLEELRPYFRDRGWPLPGPL

Sequence length

567

Interactions

View interactions

	Reactome
			Assembly of active LPL and LIPC lipase complexes

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs554054538, rs587777626, rs760536168, rs199953320, rs2544498725, rs778522733, rs1780924305	RCV002449441 RCV004992012 RCV002382476 RCV004047216 RCV002376534 RCV005405933 RCV004517556 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Pathogenic	rs769211813	RCV005922651	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipase deficiency, combined	Likely pathogenic; Pathogenic	rs768161861, rs769211813, rs554054538, rs587777626, rs121909397, rs887346658, rs199953320, rs549008037	RCV005860227 RCV001813911 RCV001836678 RCV000133508 RCV000000828 RCV002246692 RCV005232913 RCV004796842 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LMF1-related disorder	Likely pathogenic	rs745764691	RCV003408542	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRIGLYCERIDEMIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute pancreatitis	Pancreatitis	BEFREE	29921298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASCAT_DG	28346443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31442207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial lipase maturation factor 1 deficiency	Lipase Maturation Factor 1 Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	GWASCAT_DG	28346443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	36541697	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	24646025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	Pubtator	19820022, 29288010, 29748148, 32375710, 39537501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	24793350, 27578123, 30037590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	19820022, 22135386, 23151256, 29910226, 29921298, 30172716, 30885219, 32115487, 32264896, 35741823, 36613909, 36689289, 38346769, 39278772, 39537501	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lecithin Acyltransferase Deficiency	Lecithin Acyltransferase Deficiency	BEFREE	26687706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipase deficiency combined	Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	BEFREE	17994020, 20224398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipase deficiency combined	Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	GENOMICS_ENGLAND_DG	22239554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipase deficiency combined	Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	ORPHANET_DG	25732519, 29980054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipase deficiency combined	Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipase deficiency combined	Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	19494770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30885219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	30885219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	19820022, 26079787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	19820022, 30885219, 32264896, 38346769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

LMF1 (lipase maturation factor 1)