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FLASH GENE
Symbol SLMAP contributors: mct/npt - updated : 14-02-2019
HGNC name sarcolemma associated protein
HGNC id 16643
Location 3p14.3      Physical location : 57.743.173 - 57.914.894
Synonym name sarcolemmal membrane-associated protein
Synonym symbol(s) SLAP, KIAA1601, MGC138760, MGC138761, FLJ42206
DNA
TYPE functioning gene
STRUCTURE 173.78 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
RAP140 3p21.31 retinoblastoma-associated protein 140 ARHGEF3 3p21-p13 Rho guanine nucleotide exchange factor (GEF) 3 SPATA12 3p21.2 spermatogenesis associated 12 IL17RD 3p21.1 interleukin 17 receptor D HESX1 3p21.2-p21.1 homeo box (expressed in ES cells) 1 APPL 3p21.1-p14.3 homeo box (expressed in ES cells) 1 ASB14 3p21.1 ankyrin repeat and SOCS box-containing 14 FLJ40427 3p21.2 hypothetical protein FLJ40427 FLJ44290 3p21.2 FLJ44290 protein DKFZp667B1218 3p21.2 hypothetical protein DKFZp667B1218 ARF4 3p21.2-p21.1 ADP-ribosylation factor 4 FLJ34969 3p21.2 hypothetical protein FLJ34969 SLMAP 3p21.2-p14.3 sarcolemma associated protein LOC344797 3p21.2 similar to peptidylprolyl isomerase A FLNB 3p14.3 filamin B, beta (actin binding protein 278) DNASE1L3 3p21.1-p14.3 deoxyribonuclease I-like 3 ABHD6 3p21.2 abhydrolase domain containing 6 RPP14 3p21.2 ribonuclease P (14kD) PXK 3p21.2 PX domain containing serine/threonine kinase PDHB 3p21.1-p14.3 pyruvate dehydrogenase (lipoamide) beta KCTD6 3p21.2 potassium channel tetramerisation domain containing 6 ACOX2 3p14.3 acyl-Coenzyme A oxidase 2, branched chain TU3A 3p21.1 Homo sapiens TU3A protein (TU3A), mRNA. LOC389126 3 LOC389126 FAM3D 3p21.1 family with sequence similarity 3, member D FLJ42117 3p21.2 FLJ42117 protein
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing 1330 37 322 cardiac soleus, smooth muscle 2015 25880194
- splicing 1570 46 452 cardiac, soleus and smooth muscle 2015 25880194
8 splicing 3807 - 296 2015 25880194
22 - 5523 - 828 - 2015 25880194
20 - 5409 - 790 - 2015 25880194
10 - 4005 - 362 - 2015 25880194
11 - 4095 - 359 - 2015 25880194
7 - 2436 - 271 - 2015 25880194
21 - 5472 - 811 - 2015 25880194
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrineparathyroid   highly
Respiratoryrespiratory tracttrachea  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmooth   
Muscularstriatumcardiac  
cell lineage
cell lines
fluid/secretion
at STAGE
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