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FLASH GENE
Symbol LAMP1 contributors: mct/npt/pgu - updated : 07-06-2015
HGNC name lysosomal-associated membrane protein 1
HGNC id 6499
Location 13q34      Physical location : 113.951.468 - 113.977.741
Synonym symbol(s) LAMPA, CD107a, LGP120, LAMP-1
DNA
TYPE functioning gene
STRUCTURE 26.00 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2560 - 417 - 2007 17245426
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue  highly
 stomach   highly
Endocrinepancreas   highly
Nervousnerve   highly
Reproductivefemale systemovary  highly
Urinarybladder   highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period puberty, pregnancy
Text
  • placenta
  • appears late in spermatogenesis (Acrosome-phase)
    • PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • two extracellular N glycosylation sites
  • a transmembrane (1TM) segment
  • a short cytoplasmic tail
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Lamp1
    Homologene
    FAMILY
  • LAMP family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • presenting carbohydrate ligands to selectins
  • could be involved in keratinocyte differentiation, but apparently not through interaction with galectin-3
  • LAMP1 and LAMP2 are delivered to phagosomes during the maturation process
  • can serve as a cell surface binding site for amelogenin on dental follicle cells and cementoblasts
  • LAMP1 and LAMP2 have distinct functions, and the presence of both proteins together is required for the essential regulation of autophagy to avoid embryonic lethality
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major constituents of lysosomal membranes
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with AMELX (AMELX interacts with the transmembrane proteins CD63 and LAMP (lysosome-associated membrane protein) 1, which are involved in endocytosis)
  • specific receptor for ERAP2, it is not a receptor for M180 amelogenin
  • MCOLN1 loss specifically causes, an increase in the lysosomal protease CTSB and the lysosomal membrane protein LAMP1
    • cell & other i5 lysosomal associated
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in Gaucher disease with severe clinical manisfestations
    constitutional     --other  
    differentially expressed in acute and chronic human thymic involution
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • LAMP1 expression may be a sensitive marker for the cytotoxic activity determination
    • Therapy target
    ANIMAL & CELL MODELS