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Symbol SLMAP contributors: mct/npt - updated : 14-02-2019
HGNC name sarcolemma associated protein
HGNC id 16643
PROTEIN
PHYSICAL PROPERTIES acid Amphiphilic
STRUCTURE
motifs/domains
  • a previously uncharacterized N-terminal sequence encompassing a forkhead-associated (FHA) domain that resides at the centrosome
  • putative transmembrane domain at the C terminus, unique C-terminal membrane anchors that could target this molecule to distinct subcellular membranes
  • two potential leucine zipper motif
    • secondary structure a large region of coiled-coil structure including an 11 heptad acidic amphipathic alpha-helical segment
    HOMOLOGY
    interspecies homolog to murine Slap
    Homologene
    FAMILY
  • SLMAP family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • tail-anchores membrane protein exhibiting tissue-specific expression and situated to serve a variety of roles through their coiled-coil motifs
  • could self assemble and bind myosin in cardiac muscle
  • playing a potential role in the structural arrangement of the E-C (excitation-contraction) coupling apparatus
  • SLMAP is a regulator of E-C coupling at the level of the sarcoplasmic reticulum and its perturbation results in progressive deterioration of cardiac electrophysiology and function
  • tail-anchored protein involved in fundamental cellular processes, such as myoblast fusion, cell cycle progression, and chromosomal inheritance
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the microtubule organizing centre
  • part of the conserved striatin-interacting phosphatase and kinase (STRIPAK) complex required for specific signaling pathways
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • complex striatin-interacting phosphatase and kinase (STRIPAK), can establish mutually exclusive interactions with the cortactin-binding proteins cortactin-binding protein 2 (CTTNBP2)/cortactin-binding protein 2, N-terminal-like (CTTNBP2NL) or with an assembly of sarcolemmal membrane-associated protein (SLMAP)
    • cell & other
  • sarcolemmal associated
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    associated with diabetes and endothelial dysfunction of macro- and micro-blood vessels
    constitutional germinal mutation      
    may cause Brugada syndrome via modulating the intracellular trafficking of SCNA5 channel
    Susceptibility to diabetic retinopathy (DR) in type 2 diabetes (T2DM)
    Variant & Polymorphism other
  • SLMAP rs17058639 C&
    • 8201;>&
    8201;T polymorphism was associated with the presence of diabetic retinopathy (DR) in type 2 diabetes (T2DM)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS