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FLASH GENE
Symbol MLIP contributors: mct - updated : 08-02-2012
HGNC name muscular LMNA-interacting protein
HGNC id 21355
Location 6p12.1      Physical location : -
Synonym name
  • chromosome 6 open reading frame 142
  • muscle-enriched A-type lamin interacting protein
    • Synonym symbol(s) MGC18257, RP11-642N5.1, C6orf142
    DNA
    TYPE functioning gene
    STRUCTURE 247.36 kb     13 Exon(s)    1 Copie(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text
  • alternatively spliced variants (23-57 kDa) (PMID: 21498514)
  • at least seven, alternatively spliced, LMNA-interacting factors (PMID: 21498514)
    • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1825 57 458 - 2011 21498514
    EXPRESSION
    Rna function mRNA expression in human tissue was restricted primarily to the heart and the skeletal muscle with a detectable signal for MLIP also observed in the liver
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Nervousbrain     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth  highly Homo sapiens
    Muscularstriatumskeletal highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a lamin-binding domain, spaning across exons 1 and 2
  • a highly conserved nuclear localization sequence (PENKKSKQ from AA 721 to 728)
  • CCAAT/enhancer binding protein zeta
    • secondary structure
  • 46p100 of the sequence is beta-strand and 27p100 alpha-helices
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    intracellular,nuclear envelope,lumen
    text
  • co-localizes with lamin A and C in the nuclear envelope, and also co-localizes with promyelocytic leukemia (PML) bodies within the nucleus
  • majority of MLIP is localized to the nuclear envelope and within the nucleus itself
    • basic FUNCTION
  • may serve important biological roles in regulating lamin function that includes important roles in maintaining nuclear structure, chromatin organization, DNA replication, cell cycle regulation, and apoptosis
  • likely to contribute to the mesenchymal phenotypes of laminopathies
  • may represent an innovation of amniotes, an amniote acquisition that may play an important regulatory or functional role that is unique to amniotes
  • may function as a tethering protein linking LMNA to unidentified factors either within the nuclear envelope or within PML bodies
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts directly and co-localizes with lamin A and C in the nuclear envelope
  • interaction with LMNA, and MLIP interaction domain is between AAs 1 and 130 of LMNA, which includes the N-terminal globular head domain plus coil 1A, linker 1, and the first 43 AAs of coil 1B
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS