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

    Gene ID: 76483, updated on 2-May-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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    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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