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FLASH GENE
Symbol ERC1 contributors: mct/npt/pgu - updated : 27-09-2016
HGNC name ELKS/RAB6-interacting/CAST family member 1
HGNC id 17072
Corresponding disease
DEL12PD chromosome 12p13.33 microdeletion syndrome
Location 12p13.33      Physical location : 1.100.403 - 1.605.099
Synonym name
  • protein rich in glutamic acid, leucine L, lysine K and serine S
  • RAB6 interacting protein 2
  • ERC protein 1
  • Synonym symbol(s) KIAA1081, ELKS, RAB6IP2, CAST2, MGC12974
    DNA
    TYPE functioning gene
    STRUCTURE 504.70 kb     20 Exon(s)
    regulatory sequence cytosine-phosphate-guanine/HTF
    Binding site
    text structure SP1 and SP2 binding sites
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 6919 - 948 - 2006 16964243
    20 splicing 7051 - 992 highly in the brain 2006 16964243
    exon 14 A
    17 splicing 9229 - 1088 testis, thyroid 2006 16964243
    exon 14 A, lack exon 1B, lack exon 12-17
    16 splicing 6070 - 720 - 2006 16964243
    exon 14 A, lack exon 1B, lack exon 3 to 6
    18 splicing 9313 - 1116 testis,thyroid and other tissue 2006 16964243
    exon 14 A, lack exon 1B, lack exons 12-17, exon 6A
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Nervousbraindiencephalonamygdala highly
     braindiencephalonthalamus highly
    Reproductivefemale systemovary  highly
    Respiratorylung   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine alpha helical coiled coil structures, rich in glutamic acid, leucine L, lysine K
  • serine S including periodic heptad repeats
  • HOMOLOGY
    Homologene
    FAMILY
  • RIM-binding proteins family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • having regulatory function for IKK and NFKB activation
  • required for protein transport from the ER to the golgi complex
  • positively regulates exocytotic release in RBL-2H3 by acting on the plasma membrane upon stimulation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major component of the presynaptic active zones of neurons in the central nervous system, and component of neuromuscular junction synapses in the peripheral nervous system
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PHLDB2 and ERC1 can form a PIP3-regulated cortical platform to which CLASPs attach distal microtubule ends
  • RAB6A binding protein (directs targeting of secretory vesicles to plasma-membrane sites enriched in the cortical protein ERC1)
  • ATM activates the IKK kinase TAK1 in a manner dependent on IKBKG and ERS1 (a protein rich in glutamate, leucine, lysine, and serine)
  • RAB8A8A and ERC1 can be linked by MICAL3
  • SDCCAG8 interacts with proteins of the centriolar satellites (OFD1, CEP131), of the endosomal sorting complex (RABEP2, ERC1), and with non-muscle myosin motor proteins (MYH9, MYH10, MYH14) at the centrosome
  • cell & other
    REGULATION
    Other ATM- and IKBKG-dependent ubiquitination of ERC1 leads to the ubiquitin-dependent assembly of TAK1/TAB2/3 and IKBKG/IKK complexes, resulting in IKK and NFKB activation following genotoxic stimuli
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL12PD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    with RET to form a chimeric protein 5' - ELK1 - RET - 3' in papillary thyroid carcinoma
    tumoral fusion      
    in PDGFRB-positive acute myeloid malignancy with a new t(5;12)(q33;p13.3)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for chilhood apraxia of speech
    Marker
    Therapy target
    ANIMAL & CELL MODELS