Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol LMF1 contributors: mct/npt - updated : 19-02-2010
HGNC name lipase maturation factor 1
HGNC id 14154
Corresponding disease
LPPLD Lipoprotein lipase deficiency with severe hypertriglyceridemia
Location 16p13.3      Physical location : 903.634 - 1.031.318
Synonym name
  • hypothetical protein LOC64788
  • chromosome 16 open reading frame 26
  • transmembrane protein 112
  • Synonym symbol(s) C16orf26, FLJ12681, JFP11, FLJ22302, TMEM112A, TMEM112
    DNA
    TYPE like-sequence
    STRUCTURE 117.35 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2620 - 567 - Peterfy (2007)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
    Nervousnervecranial nerve   
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Tmem112 ( 79 pc)
    Homologene
    FAMILY
  • lipase maturation factor family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • functions in the post-translational attainment of enzyme activity for both lipoprotein lipase and hepatic lipase (Doolittle 2009)
  • involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum (Cefalu 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts physically with lipoprotein lipase and hepatic lipase and localizes the lipase interaction site to loop C within DUF1222 (Doolittle 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LPPLD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in hypertriglyceridemia with combined lipase deficiency
    Susceptibility to combined lipase deficiency with hypertriglyceridemia
    Variant & Polymorphism
    Candidate gene an important candidate gene in hypertriglyceridemia
    Marker
    Therapy target
    ANIMAL & CELL MODELS