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Lmf1 Gene Detail
Summary
  • Symbol
    Lmf1
  • Name
    lipase maturation factor 1
  • Synonyms
    2400010G15Rik, cld, Tmem112
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923733
    NCBI Gene: 76483
  • Gene Overview
    MyGene.info: LMF1
Location & Maps
more
  • Sequence Map
    Chr17:25579177-25662826 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      83650 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 12.70 cM, cytoband A3.3
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    LMF1, lipase maturation factor 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    LMF1, lipase maturation factor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C16orf26, HMFN1876, JFP11, TMEM112, TMEM112A
  • Links
    NCBI Gene ID: 64788
    neXtProt AC: NX_Q96S06

  • Chr Location
    16p13.3; chr16:853634-981318 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human LMF1 associations

Human Disease Mouse Models
       Lipase Deficiency, Combined   OMIM: 246650
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 2 alleles in 3 genetic backgrounds
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Gene trapped
    1
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    1
  • Genomic Mutations
    2 involving Lmf1
  • Incidental Mutations
Mutations in this gene result in neonatal death following progressive cyanosis, combined lipase deficiency, and hypertriglyceridemia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031244 VEGA Gene Model | MGI Sequence Detail 83650 C57BL/6J ±  kb
transcript OTTMUST00000077396 VEGA | MGI Sequence Detail 1858 Not Applicable  
polypeptide OTTMUSP00000040925 VEGA | MGI Sequence Detail 574 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    489 from dbSNP Build 142
Protein
Information
less
  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000009856 lipase maturation factor 1
  • InterPro Domains
    IPR009613 Lipase maturation factor
Molecular
Reagents
less
  • All nucleic 13
    cDNA 13

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-2009, MGI:2147103, MGI:88418
References
more
  • Summaries
    All 43
    Developmental Gene Expression 3
    Gene Ontology 10
    Phenotypes 20
  • Earliest
    J:7083 Paterniti JR Jr, et al., Combined lipase deficiency (cld): a lethal mutation on chromosome 17 of the mouse. Science. 1983 Jul 8;221(4606):167-9
  • Latest
    J:223457 Ehrhardt N, et al., Embryonic viability, lipase deficiency, hypertriglyceridemia and neonatal lethality in a novel LMF1-deficient mouse model. Nutr Metab (Lond). 2014;11:37

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory