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FLASH GENE
Symbol RTN1 contributors: mct - updated : 27-12-2005
HGNC name reticulon 1
HGNC id 10467
Location 14q23.1      Physical location : 60.062.693 - 60.337.557
Synonym name neuroendocrine specific protein
Synonym symbol(s) NSP
DNA
TYPE functioning gene
STRUCTURE 276.00 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • promoters multiple and likely multiple initiation sites
  • three alternative exons A,B,C
    • MAPPING cloned Y linked   status confirmed
    Physical map
    PSMA3 14q23 proteasome (prosome, macropain) subunit, alpha type, 3 HMGB1P 14 high-mobility group box 1 pseudogene RBBP1 14q22.3 retinoblastoma binding protein 1 LOC387990 14 similar to TIMM9 TIMM9 14q22.3-q24 translocase of inner mitochondrial membrane 9 homolog (yeast) KIAA0586 14q23.1 KIAA0586 HSBP1P1 14 heat shock factor binding protein 1 pseudogene 1 HNRPCP 14 heterogeneous nuclear ribonucleoprotein C pseudogene DACT1 14q22.3 dapper homolog 1, antagonist of beta-catenin (xenopus) LOC387991 14 similar to ribosomal protein L31 LOC390482 14 similar to Aldo-keto reductase family 1, member B1 PPIAP5 14 peptidylprolyl isomerase A (cyclophilin A) pseudogene 5 DAAM1 14q22.3 dishevelled associated activator of morphogenesis 1 GPR135 14q23.1 G protein-coupled receptor 135 FLJ25436 14q23.1 hypothetical protein FLJ25436 C14orf100 14q22.3 chromosome 14 open reading frame 100 RTN1 14q21-q22 reticulon 1 FLJ46156 14q23.1 FLJ46156 protein C14orf135 14q23.1 chromosome 14 open reading frame 135 DHRS7 14q23.1 dehydrogenase/reductase (SDR family) member 7 PSMA3P 14 proteasome (prosome, macropain) subunit, alpha type, 3 pseudogene PPM1A 14q22.3-q23.1 protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform RBM8B 14q22.1-q22.3 RNA binding motif protein 8B pseudogene C14orf39 14q23.1 chromosome 14 open reading frame 39 LOC390483 14 similar to sal-like 4 SIX6 14q22.3-q23 sine oculis homeobox homolog 6 (Drosophila) LOC387992 14 LOC387992 SIX1 14q22-q23 sine oculis homeobox homolog 1 (Drosophila) SIX4 14q23 sine oculis homeobox homolog 4 (Drosophila) MNAT1 14q23 menage a trois 1 (CAK assembly factor) MAD2L1P 14 MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene
    RNA
    TRANSCRIPTS type messenger
    text truncated form NSP-B, NSP-C
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3202 83.6 776 small cell lung carcinoma Millet, Di Sano (2007)
  • unique N-terminus
  • length of the hydrophobic segment contributes to the ER retention
    • - splicing 2148 38.4 356 NCI-Hg2 cell line Millet, Di Sano (2007)
    unique N terminus
    - - 1710 22.4 208 small cell lung carcinoma Millet, Fazi (2006)
  • unique N terminus
  • possesses helical transmembrane segments when a membrane-like environment is produced by detergents
    		•
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary   
    Nervousbrain   highly
     nerve   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificneuroendocrine cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		200 amino acid C-terminal domain containing two long hydrophobic sequences
    HOMOLOGY
    Homologene
    FAMILY reticulon family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    text
  • anchored to membranes of the endoplasmic reticulum through its carboxy-terminal regions
  • Mutant proteins lacking the first (39 residues) or second (36 residues) hydrophobic segment showed ER localization, but mutant lacking both hydrophobic segments was cytosolic
    • basic FUNCTION
  • maybe involved in neuroendocrine secretion and membrane trafficking not inhibiting axonal regeneration
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    in lung tumor cells, expression of NSP-A and most likely also NSP-C is restricted to cells with a neuroendocrine phenotype
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS