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FLASH GENE
Symbol NECAP1 contributors: mct - updated : 04-05-2015
HGNC name NECAP endocytosis associated 1
HGNC id 24539
Corresponding disease
EIEE21 epileptic encephalopathy, early infantile, 21
Location 12p13.31      Physical location : 8.234.806 - 8.250.373
Synonym name N-adaptin ear-binding clathrin-associated protein
Synonym symbol(s) EIEE21
DNA
TYPE functioning gene
STRUCTURE 15.57 kb     8 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 2600 - 275 - 2003 14555962
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain     Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY regulatory
SUBCELLULAR LOCALIZATION     plasma membrane
basic FUNCTION
  • plays a role in clathrin-mediated neuronal endocytosis, including a role in presynaptic endocytosis
  • alpha-ear-binding protein that enrich on clathrin-coated vesicle (CCV)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE21
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS