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FLASH GENE
Symbol KIDINS220 contributors: mct - updated : 07-07-2015
HGNC name kinase D-interacting substrate, 220kDa
HGNC id 29508
Location 2p25.1      Physical location : 8.868.986 - 8.977.755
Synonym name ankyrin repeat-rich membrane spanning
Synonym symbol(s) KIAA1250, MGC163482, ARMS
DNA
TYPE functioning gene
STRUCTURE 108.77 kb     30 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
FLJ30594 2p25.3 hypothetical protein FLJ30594 LOC391349 2 similar to phosphoinositide-3-kinase, catalytic, delta polypeptide; p110d; phosphatidylinositol 3-kinase, catalytic, delta polypeptide LOC129607 2p25.2 hypothetical protein LOC129607 cig5 2p25.2 viperin RNF144 2p25 ring finger protein 144 LOC129614 2p25.2 similar to acidic integral membrane protein LOC391350 2 similar to ENSANGP00000014942 ID2 2p25 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein KIDINS220 2p24 likely homolog of rat kinase D-interacting substance of 220 kDa LOC129642 2p25.2 hypothetical protein BC016005 DDEF2 2p24 development and differentiation enhancing factor 2 ITGB1BP1 2p25.2 integrin beta 1 binding protein 1 CPSF3 2pter-p25 cleavage and polyadenylation specific factor 3, 73kDa LOC285148 2p25.2 hypothetical protein LOC285148 ADAM17 2p25 a disintegrin and metalloproteinase domain 17 (tumor necrosis factor, alpha, converting enzyme) YWHAQ 2p25 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide TAF1B 2p25 TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa TFCP2L2 2p25.1 transcription factor CP2-like 2 TIEG2 2p25 TGFB inducible early growth response 2 RRM2 2p24 ribonucleotide reductase M2 polypeptide FLJ25102 2p25.1 hypothetical protein FLJ25102 HPCAL1 2p25.1 hippocalcin-like 1 ODC1 2p25 ornithine decarboxylase 1 LOC130063 2p25.1 hypothetical gene LOC130063 FLJ14075 2p25.1 hypothetical protein FLJ14075 ATP6V1C2 2p25.1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2 P5 2p25.1 protein disulfide isomerase-related protein LOC388924 2 LOC388924 KCNF1 2p25 potassium voltage-gated channel, subfamily F, member 1 FLJ33534 2p25.1 hypothetical protein FLJ33534 LOC391351 2 similar to RPL6 protein FLJ25143 2p25.1 hypothetical protein FLJ25143 MGC33602 ROCK2 2p24 Rho-associated, coiled-coil containing protein kinase 2
RNA
TRANSCRIPTS type messenger
text two potential sites for alternative splicing of KIDINS220/ARMS: the first is located between exon 24 and exon 29, while the second site replaces exon 32 by a short alternative terminal exon 33 (PMID: 26083449)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
30 - 7361 220 1771 - 2015 26083449
32 splicing - - - - 2015 26083449
isoform containing exon 32, targeted to the plasma membrane and neurite tips
32 - - - - - 2015 26083449
  • isoform without exon 33 mainly clusters the full-length protein in a perinuclear intracellular compartment in primary neurons, leading to a change in neurotrophin receptor expression
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrine     Homo sapiens
    Nervousbrainlimbic systemhippocampus   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 11 ankyrin repeats
  • four transmembrane domains within the N-terminal region
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus,nucleoplasm
    text
  • interacts with the microtubule and actin cytoskeleton
  • basic FUNCTION
  • key feature of the neurotrophin signaling, shown to be critical for neuronal survival under pathologic settings
  • plays an important role in NF-kappaB signaling elicited by brain-derived neurotrophic factor (BDNF)
  • important for the growth of dendritic arbors and spine stability during an activity- and BDNF-dependent period of development
  • key modulator of the activity of microtubule-regulating proteins known to actively regulate neuronal morphogenesis and suggest a mechanism by which it contributes to control neuronal development
  • scaffold protein that has important implications in neurotrophin signalling, modulates the development and maturation of axons and dendrites
  • modulation of its levels can regulate basal synaptic strength in a specific manner in hippocampal neurons
  • serves as a unique downstream adaptor protein of Trk receptor tyrosine kinases
  • major factor that links neurotrophin signaling to NF-kappaB
  • interaction with SEPT5 suggests a possible role as a functional link between neurotrophin receptors and septins to mediate neurotrophin-induced intracellular signaling events, such as neurite outgrowth and cytoskeletal remodeling
  • can be potentially regulated by neuronal activity and calpain action to influence synaptic function
  • required for neuronal differentiation and survival, and its expression levels modulate synaptic plasticity
  • is not essential for basal synaptic transmission and various forms of short-term plasticity, but instead plays a novel role in the mechanisms regulating the recovery of synaptic strength in GABAergic synapses
  • is likely a key player in organizing the signaling complex to transduce the extracellular stimuli to cellular responses during dendrite development
  • was required for optimal calcium signaling
  • acts as a major signaling platform in organizing the signaling complex to regulate various cellular responses in the nervous and vascular systems
  • role of ARMS/Kidins220 as a signaling platform to regulate tumor cell proliferation in response to the extracellular stimuli
  • acts as a signaling platform at the plasma membrane and is implicated in a multitude of neuronal functions, including the control of neuronal activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • transmembrane substrate of tropomyosin receptor kinase B (TRKB)
  • intreacting with Septin 5 (SEPT5)
  • integral membrane protein that was initially identified as a substrate for protein kinase D, a kinase we have found to regulate its intracellular traffic in neurons
  • is rapidly cleaved by calpain during excitotoxicity, a form of neuronal death associated to phosphatases (PPs) activation
  • downstream target of neurotrophin and ephrin receptors, in dendrite development
  • association of NMDARs with KIDINS220 and the participation of this protein in neuronal survival and death pathways
  • KIDINS220 stability and cleavage by calpain is under the control of GSK3B and PP1 activities
  • is a substrate for GSK3B and is likely phosphorylated by this kinase in AD brain, as it has been demonstrated for MAPT
  • is required for TCR-induced sustained, but not transient, Erk activation
  • is a novel TCR-interacting protein that couples BRAF to the TCR
  • transmembrane protein playing a crucial role in neuronal and cardiovascular development
  • downstream target of neurotrophin receptors and interacts with several signalling and trafficking factors
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    to melanoma formation by preventing stress-induced apoptotic death mediated by the MEK/ERK signaling pathway, especially in acral lentiginous melanoma
    constitutional     --low  
    by excitotoxicity and cerebral ischaemia contributed to neuronal death
    constitutional     --over  
    in necropsies from AD patients where it accumulates with hyperphosphorylated MAPT, and is phosphorylated by GSK3B in AD brain, wich could be protecting KIDINS220 from calpain cleavage, contributing to accumulation of this protein in AD samples
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS