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FLASH GENE
Symbol RNF13 contributors: mct - updated : 25-01-2019
HGNC name ring finger protein 13
HGNC id 10057
Corresponding disease
EIEE69 epileptic encephalopathy, early infantile, 68
Location 3q25.1      Physical location : 149.530.474 - 149.679.923
Synonym name RING zinc finger protein
Synonym symbol(s) RZF, FLJ93817, MGC13689
EC.number 2.3.2.27
DNA
TYPE functioning gene
STRUCTURE 149.45 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text two transcripts encode the same protein
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 2965 - 381 - 2013 23378536
10 - 2963 - 381 - 2013 23378536
9 - 2743 - 262 - 2013 23378536
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   predominantly Homo sapiensAdult
 brain   predominantly Homo sapiensFetal
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal protease-associated (PA) domain, a protease-associated domain, with a functional role for the PA domain, which is required for endosomal localization of the protein
  • RING and transmembrane domains of RNF13 are both required for its effects on JNK activation and apoptosis
  • a PHD domain
  • a C-terminal RING finger domain separated by a transmembrane region, a RING (C3HC4-type) zinc finger motif
  • conjugated MetalloP
    HOMOLOGY
    Homologene
    FAMILY
  • PA (protease associated)-TM (transmembrane)-RING (really interesting new gene) protein family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    text
  • is highly enriched in ER
  • basic FUNCTION
  • maybe involved in protein-protein integration
  • putative E3 ubiquitin-ligase activity intrinsic to the RING domain
  • is an E3 ubiquitin ligase embedded in endosome membranes
  • RNF13, with its ubiquitin ligase-active RING domain, has the potential to turn over key nuclear proteins in response to signals received at the plasma membrane
  • RNF13 expression is developmentally regulated during myogenesis and is upregulated in various tumors
  • acting as an ubiquitin ligase, might likely have profound biological functions during development and disease
  • RNF13 is likely involved in the regulation of the SNARE complex, which thereby controls synaptic function
  • RNF13 is likely a critical mediator for facilitating ER stress-induced apoptosis through the activation of the ERN1-TRAF2-JNK signaling pathway
  • inflammatory cells are important in RNF13-mediated satellite cell functions
  • is a novel E3 ubiquitin ligase whose expression is associated with cancer development
  • involved in neuronal development
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • RNF13 directly interacted with SNAPIN, a SNAP-25-interacting protein
  • RNF13-ERN1 interaction increased the stability of ERN1
  • RNF13 affects the concentration of CSF2 in tumor-bearing lungs, leading to a reduction in the colonization of metastatic tumor cells in the lung
  • ERN1 signaling is quite context-specific on account of many adaptor and modulator proteins that directly interact with it, including heat shock proteins (HSPs), RNF13, PARP16, TMBIM6
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE69
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    RNF13 deficiency promotes skeletal muscle regeneration via the effects on satellite cell niche mediated by IL4 and IL6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Rnf13(-/-) mice exhibited enhanced muscle regeneration-characterized by accelerated satellite cell proliferation-compared with wild-type mice