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FLASH GENE
Symbol REEP1 contributors: mct/npt - updated : 05-04-2016
HGNC name receptor accessory protein 1
HGNC id 25786
Corresponding disease
DHMN5B distal hereditary motor neuronopathy type VB
SPG31 spastic paraplegia 31
Location 2p11.2      Physical location : 86.441.121 - 86.565.206
Synonym name
  • chromosome 2 open reading frame 23
  • receptor expression enhancing protein 1
  • Synonym symbol(s) C2orf23, FLJ13110
    DNA
    TYPE functioning gene
    STRUCTURE 123.66 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3868 22.1 201 - 2014 24478229
    6 - 3795 - 174 - 2014 24478229
    7 - 3752 - 208 - 2014 24478229
    5 - 3633 - 143 - 2014 24478229
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
     spinal cordanterior horn    Homo sapiens
    Reproductivemale systemtestis  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminus of REEP1 is necessary for proper targeting to and/or retention in the ER
  • two transmembrane domains, the first of which may function as a signal peptide
  • common domain REEP5/DP, and HVA22
  • HOMOLOGY
    Homologene
    FAMILY
  • DP1 family
  • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • is present at the ER-mitochondria interface, and it contains subdomains for mitochondrial as well as ER localization
  • basic FUNCTION
  • may enhance the cell surface expression of odorant receptors
  • involved in chaperone-like activities
  • co-overexpression of ATL1 and REEP1, generates large Lipid droplets (LDs)
  • membrane shaping adapter protein that modulate specific G protein-coupled receptor trafficking by affecting ER cargo capacity
  • role of REEP1 in lipid droplet biology
  • conserved role of REEP1 in promoting stress resistance and preventing the formation of Tau aggregates
  • facilitates ER-mitochondria interactions, a function diminished by disease-associated mutations
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/olfaction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with odorant receptor proteins
  • with ATL1 and SPAST, interact within the tubular ER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics
  • ZFYVE27 interact with other hereditary spastic paraplegia-related proteins including myelin proteolipid protein 1 (SPG2), atlastin-1 (SPG3A), REEP1, REEP5 (similar to REEP1), KIF5A, KIF5B, KIF5C
  • VIMP can interact with CKAP4 and SNX5, it does not interact with MT-binding ER proteins (such as REEP1) that shape the tubular smooth ER
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG31 , DHMN5B
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS