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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
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:25579174-25662826 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 12.70 cM, cytoband A3.3
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    489 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923733
protein coding gene Chr17:25579174-25662831 (.)
129S1/SvImJ MGP_129S1SvImJ_G0023359
protein coding gene Chr17:24659578-24752183 (+)
A/J MGP_AJ_G0023318
protein coding gene Chr17:23951205-24034342 (+)
AKR/J MGP_AKRJ_G0023284
protein coding gene Chr17:24053254-24138647 (+)
BALB/cJ MGP_BALBcJ_G0023323
protein coding gene Chr17:24174384-24258967 (+)
C3H/HeJ MGP_C3HHeJ_G0023083
protein coding gene Chr17:24432169-24519287 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023765
protein coding gene Chr17:25717373-25802792 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021241
protein coding gene Chr17:21416763-21497102 (+)
CAST/EiJ MGP_CASTEiJ_G0022585
protein coding gene Chr17:24305006-24390389 (+)
CBA/J MGP_CBAJ_G0023058
protein coding gene Chr17:26609966-26702908 (+)
DBA/2J MGP_DBA2J_G0023188
protein coding gene Chr17:23549387-23636294 (+)
FVB/NJ MGP_FVBNJ_G0023158
protein coding gene Chr17:23270956-23361877 (+)
LP/J MGP_LPJ_G0023265
protein coding gene Chr17:24951653-25045557 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023177
protein coding gene Chr17:26240968-26328802 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023805
protein coding gene Chr17:24353566-24442438 (+)
PWK/PhJ MGP_PWKPhJ_G0022334
protein coding gene Chr17:22305033-22394277 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022152
protein coding gene Chr17:22433145-22519237 (+)
WSB/EiJ MGP_WSBEiJ_G0022648
protein coding gene Chr17:24419333-24506487 (+)



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
    UniProt: Q96S06

  • Chr Location
    16p13.3; chr16:853632-981615 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000002279 Ensembl Gene Model | MGI Sequence Detail 83653 C57BL/6J ±  kb
    transcript ENSMUST00000063344 Ensembl | MGI Sequence Detail 1861 Not Applicable  
    polypeptide ENSMUSP00000066682 Ensembl | MGI Sequence Detail 574 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • InterPro Domains
      IPR009613 Lipase maturation factor
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 14

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-2009, MGI:2147103, MGI:88418
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 3
      Gene Ontology 12
      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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory