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FLASH GENE
Symbol NIPSNAP1 contributors: mct - updated : 12 -11-201
HGNC name nipsnap homolog 1 (C. elegans)
HGNC id 7827
Location 22q12.2      Physical location : 29.950.799 - 29.977.144
Synonym name
  • NIPSNAP, C. elegans, homolog 1
  • 4-nitrophenylphosphatase domain and non-neuronal
  • SNAP25-like 1
    DNA
    TYPE functioning gene
    STRUCTURE 26.35 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map see AP1B1
    Physical map
    LOC284901 22q12.2 similar to bA436C9.2 (PUTATIVE novel protein similar to part of HSP70/HSP90 organizing protein and transformation sensitive protein) CHEK2 22q12.1 CHK2 checkpoint homolog (S. pombe) HSC20 22q12.2 J-type co-chaperone HSC20 FLJ33814 22q12.2 hypothetical protein FLJ33814 XBP1 22q12.2 X-box binding protein 1 LOC388890 22 LOC388890 FLJ12747 22q12.1 novel C3HC4 type Zinc finger (ring finger) HS747E2A 22q12.1 hypothetical protein HS747E2A KREMEN1 22q12.1 kringle containing transmembrane protein 1 EMU1 22q12.2 emilin and multimerin-domain containing protein 1 C22orf3 22q12.1-q12.2 chromosome 22 open reading frame 3 EWSR1 22q12.2 Ewing sarcoma breakpoint region 1 GAS2L1 22q12.2 growth arrest-specific 2 like 1 RRP22 22q12.2 growth arrest-specific 2 like 1 AP1B1 22q12.2 adaptor-related protein complex 1, beta 1 subunit RFPL1 22q12.2 ret finger protein-like 1 NEFH 22q12.2 neurofilament, heavy polypeptide 200kDa C22orf19 22q12 chromosome 22 open reading frame 19 NIPSNAP1 22q12.2 nipsnap homolog 1 (C. elegans) NF2 22q12.2 neurofibromin 2 (bilateral acoustic neuroma) CABP7 22q12.2 calcium binding protein 7 LOC55954 22cen-q12.3 hypothetical protein LOC55954 HSPC051 22cen-q12.3 ubiquinol-cytochrome c reductase complex (7.2 kD) ASC1p100 22q12.1 ASC-1 complex subunit P100 MTMR3 22q12.2 myotubularin related protein 3 LOC391326 22 similar to h2-calponin MGC26710 22q12.2 hypothetical protein MGC26710 LIF 22q12.2 leukemia inhibitory factor (cholinergic differentiation factor) OSM 22q12.2 oncostatin M TBC1D10 22q12.1-qter TBC1 domain family, member 10 SF3A1 22q12.1 splicing factor 3a, subunit 1, 120kDa LOC388891 22 similar to hypothetical protein 4930562D19 LOC200312 22q12.2 similar to RIKEN cDNA 0610009J22 SEC14L2 22q12.2 SEC14-like 2 (S. cerevisiae) HSPC242 22q hypothetical protein HSPC242 LOC391327 22 similar to solute carrier family 39 (zinc transporter), member 1; zinc-iron regulated transporter-like gene; solute carrier family 39 (zinc transporter), member 3; zinc/iron regulated transporter-like SEC14L3 22q12.2 SEC14-like 3 (S. cerevisiae) LOC376844 SEC14L4 22q12.1 SEC14-like 4 (S. cerevisiae)
    regionally located located between NF2 and pK1.3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2259 33.2 284 - 2012 2231198
    10 - 1958 29 264 ubiquitously expressed in the neuronal tissues, especially in synaptic membrane and mitochondria of brain, expressed in the brain, spinal cord, liver, and kidney 2012 2231198
  • N-terminal truncated mature form of NIPSNAP1
  • PNOC interacted with the 29-kDa but not the 33-kDa NIPSNAP1
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   predominantly Homo sapiens
    Nervousbrain   predominantly Homo sapiens
     spinal cord   predominantly Homo sapiens
    Urinarykidney   predominantly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousadrenergic cell Homo sapiens
    Nervousneuron Homo sapiens
    NervousPurkinje cell Homo sapiens
    Nervouspyramidal cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • intracellular C-terminal region
  • HOMOLOGY
    interspecies homolog to C.elegans K02D10.1a
    homolog to Drosophila Nipsnap
    ortholog to murine Nipsnap1
    intraspecies homolog to highly homologous to NISNAP2
    Homologene
    FAMILY
  • NipSnap family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    text
  • localized in the postsynaptic density fraction of synapses
  • mature form of NIPSNAP1 was relatively concentrated in the synaptic membrane and mitochondrial fractions
  • basic FUNCTION
  • involved in the regulation of TRPV6 (Schoeber 2008)
  • regulates pain transmission mediated by PNOC
  • may be involved in a novel mechanism of pain transmission regulated by NST independent of a signal pathway acting through a G protein-coupled receptor
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text vesicular transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associated protein inhibiting TRPV6 activity that possibly exerts its effect directly at the plasma membrane
  • is targeted to the mitochondria via its N-terminal targeting sequence, and interacts with mitochondrial chaperone translocase of the outer membrane 22
  • APP may affect mitochondrial function through a direct interaction with NIPSNAP1 as well as with other mitochondrial proteins
  • binds to the branched-chain alpha-keto acid (BCKA) dehydrogenase enzyme complex
  • interacts with the transient receptor potential vanilloid channel TRPV6, the amyloid precursor protein, and the branched-chain alpha-ketoacid dehydrogenase enzyme complex
  • NIPSNAP1 s a nocistatin-interacting protein, and interacting molecule of PNOC that plays a crucial role in pain transmission
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneouspain 
    novel therapeutic target for pathological pain
    ANIMAL & CELL MODELS
  • Nipsnap1-deficient mice abolished the inhibition of N/OFQ-evoked allodynia by PNOC