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Symbol RNF170 contributors: mct - updated : 04-04-2012
HGNC name ring finger protein 170
HGNC id 25368
Corresponding disease
SNAX1 sensory ataxia 1
Location 8p11.21      Physical location : 42.704.780 - 42.751.866
Synonym name
  • putative LAG1-interacting protein
    • DNA
    TYPE functioning gene
    STRUCTURE 47.08 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2020 - 200 - 2011 21610068
    7 - 3785 - 200 - 2011 21610068
    7 - 3906 - 258 - 2011 21610068
    7 - 4136 - 258 - 2011 21610068
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • resides in the ER membrane with its N terminus in the ER lumen
  • with the RING domain and the C terminus in the cytosol
    • secondary structure
  • predicted to have three membrane-spanning helices
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    text integral ER membrane protein
    basic FUNCTION
  • possesses ubiquitin ligase activity
  • plays an essential role in IP3 receptor processing via the ubiquitin-proteasome pathway
  • RING domain-containing protein, residing in the ER membrane, and exhibiting ubiquitin ligase activity
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • majority of cellular RNF170 is constitutively associated with the erlin1/2 complex
  • E3 ligase that mediates ITPR1 ubiquitination
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SNAX1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS