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FLASH GENE
Symbol SYNM contributors: mct - updated : 07-01-2011
HGNC name synemin, intermediate filament protein
HGNC id 24466
Location 15q26.3      Physical location : 99.645.285 - 99.675.799
Synonym name
  • synemin
  • desmuslin
  • intermediate filament gene desmuslin
  • synemin alpha
  • synemin beta
  • Synonym symbol(s) KIAA0353, SYN, DMN
    DNA
    TYPE functioning gene
    STRUCTURE 30.51 kb     5 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 splicing 7355 172.77 1565 in heart and smooth muscle (not brain), found later in the nervous system and mesodermic derivatives concomitantly with angiogenesis and the migration of neural crest cells 2008 18342854
  • SYNM alpha, synemin H
  • a 4 exons variant
  • a very short N-terminal domain of 10 AAs, a SNTIII, 312 AAs insert composed of 7 tandem repeats, each containing a specific Ser/Thr-X-Arg-His/Gln (S/T-X-R-H/Q) motif, a long C-terminal domain with 1243 AAs
  • also called DMNA
  • direct interaction with TLN1 (SNTIII present only within alpha-synemin binds to the rod domain of TLN1 and co-localizes with TLN1 at focal adhesion sites within muscle cells)(PMID: 18342854)
  • 5 splicing 6419 150 1253 in brain, predominant in striated muscle 2008 18342854
  • a 5 exons variant
  • SYNM isoform beta, synemin M
  • containing exons 4b & 4c (shorter than 4a)
  • a very short N-terminal domain of 10 amino acids and a long C-terminal domain consisting of 931 amino acids
  • also called DMNB
  • present early with vimentin and nestin
  • - - - 41 - appeared later in neurons 2010 20024673
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainmidbrain    Homo sapiens
     spinal cord     Homo sapiens
    Reproductivefemale systembreastmammary gland highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothmuscularis mucosa (tractus digestif)  
    Muscularstriatumskeletal   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte Homo sapiens
    Nervousastrocyte Homo sapiens
    cell lineage
    cell lines astrocytoma cells
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text developing retina and lens
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • short N-terminal domain
  • conserved alphabetical coiled-coil rod domain
  • a long C-terminal domain
  • HOMOLOGY
    interspecies homolog to rattus Dmn (69.25 pc)
    homolog to murine Dmn (69.55 pc)
    Homologene
    FAMILY
  • type VI intermediate filament (IF), IF protein superfamily
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    text
  • localises at the Z-band, where it associates with desmin and alpha-actinin
  • co-localizes with talin within the costameres of human skeletal muscle cells
  • a type IV intermediate filament
  • basic FUNCTION
  • role in maintaining muscle cell integrity
  • may be participating in the pathogenesis of muscle diseases
  • key cross-linking protein connecting different cytoskeletal structures and playing a significant role in morphogenesis
  • provides temporal and spatial targeting AKAP1 in adult and neonatal cardiac myocytes
  • type VI intermediate filament (IF), playing an essential role in linking the heteropolymeric intermediate filament to adherens-type junctions, such as the costameres within striated muscle cells, via its interaction with talin protein
  • participates in focal adhesion dynamics and is essential for cell adhesion and migration
  • unique cytoplasmic intermediate filament protein
  • could represent a novel putative breast tumor suppressor gene that is prone to epigenetic silencing
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heteropolymerizing with desmin
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • alpha-dystrobrevin-interacting protein in muscle
  • interacting with dystrophin and utrophin
  • associates with the major type III IF protein desmin forming heteropolymeric intermediate filaments (IFs) within developed striated muscle cells
  • putative RII (PKA regulatory subunit type II) binding protein
  • interacts differentially with vimentin and GFAP intermediate filament networks
  • interacting with DMD and UTRN
  • direct interaction with the cytoskeletal protein talin
  • LIM domain protein zyxin was identified as an interaction partner for synemin
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in hepatocellular carcinoma compared with normal liver, which is similar to the plectin expression
    tumoral       gain of function
    in hepatic stellate cells of inflammatory diseases and in epithelial cells of intraheptic cholangiocarcinoma
    tumoral     --low  
    in invasive breast cancer compared with the normal breast tissue
    Susceptibility myofibrillar myopathy, oculopharyngeal dystrophy, dermatomyositis
    Variant & Polymorphism
    Candidate gene
    Marker useful predictive biomarker to stratify breast cancer patients' risk for tumor relapse
    Therapy target
    ANIMAL & CELL MODELS