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FLASH GENE
Symbol ERLIN1 contributors: mct - updated : 30-12-2015
HGNC name ER lipid raft associated 1
HGNC id 16947
Corresponding disease
SPG62 spastic paraplegia 62
Location 10q24.31      Physical location : 101.909.847 - 101.945.814
Synonym name
  • chromosome 10 open reading frame 69
  • SPFH domain family, member 1
  • Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9
  • endoplasmic reticulum lipid raft-associated protein 1
  • stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1
  • Synonym symbol(s) KE04, KEO4, C10orf69, SPFH1, RP11-316M21.1, Erlin-1, SPG62
    DNA
    TYPE functioning gene
    STRUCTURE 35.97 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text Variants 1 and 2 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 3206 38.9 348 - 2013 24217618
    11 - 3450 38.9 348 - 2013 24217618
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveintestinelarge intestinecolon moderately
     intestinesmall intestine  moderately
    Reproductivefemale systemuteruscervix moderately
     female systemplacenta  moderately
     male systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • extreme N-terminus of ERLIN1 were found to be sufficient for heterologous targeting of GFP to the ER in the absence of classical ER retrieval motifs
  • HOMOLOGY
    interspecies ortholog to murine Spfh1
    Homologene
    FAMILY
  • band 7/mec-2 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text membrane-associated
    basic FUNCTION
  • potential involvement in dendritic cells activation
  • ERLIN1/ERLIN2 complex is a factor that selectively mediates the ERAD of activated IP(3) receptors
  • ERLIN1, ERLIN2 promote stability of the SREBF-SCAP-INSIG complex and may contribute to the highly cooperative control of this system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • ERLIN1/2 complex is composed of an assemblage of lower-order hetero-oligomers, probably heterotrimers, linked together by assembly domain hydrophobic AAs
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • multimeric ER proteins ERLIN1 and ERLIN2 are additional SREBF1, SREBF2 regulators
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG62
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS