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Lmf1 lipase maturation factor 1 [ Mus musculus (house mouse) ]

Gene ID: 76483, updated on 5-Mar-2024

Summary

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Official Symbol
Lmf1provided by MGI
Official Full Name
lipase maturation factor 1provided by MGI
Primary source
MGI:MGI:1923733
See related
Ensembl:ENSMUSG00000002279 AllianceGenome:MGI:1923733
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
cld; Tmem112; 2400010G15Rik
Summary
Acts upstream of or within several processes, including positive regulation of lipoprotein lipase activity; protein glycosylation in Golgi; and regulation of lipid metabolic process. Located in endoplasmic reticulum membrane. Is expressed in several structures, including 1st branchial arch mandibular component; adipose tissue; central nervous system; liver; and vertebral cartilage condensation. Human ortholog(s) of this gene implicated in familial lipase maturation factor 1 deficiency. Orthologous to human LMF1 (lipase maturation factor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 31.3), adrenal adult (RPKM 12.4) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Lmf1 in Genome Data Viewer
Location:
17 A3.3; 17 12.7 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (25798143..25886381)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (25579174..25662831)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9945 Neighboring gene SRY (sex determining region Y)-box 8 Neighboring gene cytoplasmic endogenous regulator of oxidative phosphorylation 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:25745434-25745635 Neighboring gene STARR-seq mESC enhancer starr_42109 Neighboring gene RIKEN cDNA 4930541O19 gene Neighboring gene predicted gene, 22645

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Embryonic viability, lipase deficiency, hypertriglyceridemia and neonatal lethality in a novel LMF1-deficient mouse model. Ehrhardt N, et al. Nutr Metab (Lond), 2014. PMID 25302068, Free PMC Article
  2. Adrenal and liver in normal and cld/cld mice synthesize and secrete hepatic lipase, but the lipase is inactive in cld/cld mice. Schultz CJ, et al. J Lipid Res, 2000 Feb. PMID 10681405
  3. Lipase maturation factor 1 (lmf1) is induced by endoplasmic reticulum stress through activating transcription factor 6α (Atf6α) signaling. Mao HZ, et al. J Biol Chem, 2014 Aug 29. PMID 25035425, Free PMC Article
  4. Transgenic expression and genetic variation of Lmf1 affect LPL activity in mice and humans. Hosseini M, et al. Arterioscler Thromb Vasc Biol, 2012 May. PMID 22345169, Free PMC Article
  5. The cld mutation: narrowing the critical chromosomal region and selecting candidate genes. Péterfy M, et al. Mamm Genome, 2006 Oct. PMID 17019649

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. determined the alpha-synuclein-binding domain of beta-III tubulin and demonstrated that a short fragment containing this domain can suppress alpha-synuclein accumulation in the primary cultured cells
    Title: Lipase maturation factor 1 (lmf1) is induced by endoplasmic reticulum stress through activating transcription factor 6α (Atf6α) signaling.
  2. variation in Lmf1 expression is a posttranslational determinant of LPL activity.
    Title: Transgenic expression and genetic variation of Lmf1 affect LPL activity in mice and humans.
  3. Results show that cotransfection of LPL with wild-type Lmf1 restores its ability to support normal lipase maturation.
    Title: A quantitative assay measuring the function of lipase maturation factor 1.
  4. Study identified the gene containing the cld mutation as Tmem112 and rename it Lmf1 (Lipase maturation factor 1); Lmf1 encodes a transmembrane protein with an evolutionarily conserved domain of unknown function that localizes to the ER.
    Title: Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.
Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description Tests
combined lipase deficiency
GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1)  1 citation
  • Gene trapped (1) 
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within chylomicron remnant clearance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within endoplasmic reticulum to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of lipoprotein lipase activity IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of lipoprotein lipase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein maturation IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within protein maturation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within protein secretion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of cholesterol metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of triglyceride metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in triglyceride metabolic process ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
lipase maturation factor 1
Names
transmembrane protein 112

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_029624.5 → NP_083900.3  lipase maturation factor 1

    See identical proteins and their annotated locations for NP_083900.3

    Status: VALIDATED

    Source sequence(s)
    AC134908, AC154418
    Consensus CDS
    CCDS37502.2
    UniProtKB/Swiss-Prot
    Q3TDV1, Q3U3R4, Q8BM33, Q8BY75, Q8VDX3, Q9CWX8
    UniProtKB/TrEMBL
    Z4YJR1
    Related
    ENSMUSP00000112340.3, ENSMUST00000116641.9
    Conserved Domains (1) summary
    pfam06762
    Location:174 → 549
    LMF1; Lipase maturation factor

RNA

  1. NR_045520.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC134908, AC154418
    Related
    ENSMUST00000137201.8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    25798143..25886381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030250137.2 → XP_030105997.1  lipase maturation factor 1 isoform X2

    Conserved Domains (1) summary
    pfam06762
    Location:1 → 332
    LMF1; Lipase maturation factor

  2. XM_006525095.5 → XP_006525158.1  lipase maturation factor 1 isoform X1

    Conserved Domains (1) summary
    pfam06762
    Location:17 → 392
    LMF1; Lipase maturation factor

  3. XM_006525097.5 → XP_006525160.1  lipase maturation factor 1 isoform X3

    Conserved Domains (1) summary
    pfam06762
    Location:1 → 263
    LMF1; Lipase maturation factor
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3U3R4.1 GenPept UniProtKB/Swiss-Prot:Q3U3R4

Gene LinkOut

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