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FLASH GENE
Symbol AP1S1 contributors: mct/npt - updated : 01-07-2009
HGNC name adaptor-related protein complex 1, sigma 1 subunit
HGNC id 559
Corresponding disease
MEDNIK mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermia
Location 7q22.1      Physical location : 100.797.685 - 100.804.556
Synonym name
  • clathrin-associated/assembly/adaptor protein, small 1 (19kD)
  • AP1S1 adaptor-related protein complex 1, sigma 1 subunit
  • golgi adaptor HA1/AP1 adaptin sigma-1A subunit
  • HA1 19 kDa subunit
  • Synonym symbol(s) AP19, CLAPS1, SIGMA1A, FLJ92436, WUGSC:H_DJ0747G18.2
    DNA
    TYPE functioning gene
    STRUCTURE 6.87 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D7S479 - ASNS - TAC1 - NPTX2 - D8S651 - AP1S1 - SERPINE1 - D7S518 - D7S658 - qter
    Authors Gene Map (98)
    Physical map
    ACTL6 7q22 actin-like 6 GNB2 7q21.1-q22.2 guanine nucleotide binding protein (G protein), beta polypeptide 2 PERQ1 7q22 PERQ amino acid rich, with GYF domain 1 RPP20 7q22 POP7 (processing of precursor, S. cerevisiae) homolog EPO 7q21.3-q22.1 erythropoietin ZAN 7q22 zonadhesin EPHB4 7q32-q36 EphB4 LOC285995 7q22.1 hypothetical LOC285995 SLC12A9 7q22 solute carrier family 12 (potassium/chloride transporters), member 9 TRIP6 7q22 thyroid hormone receptor interactor 6 ARS2 7q21 arsenate resistance protein ARS2 ACHE 7q22.1 acetylcholinesterase (YT blood group) MUC3B 7q22 mucin 3B LOC219612 7q22.1 hypothetical gene supported by AK025404 MUC17 7q22 mucin 17 TRIM56 7q11.2 tripartite motif-containing 56 SERPINE1 7q21.3-q22.1 serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 AP1S1 7q11.22 adaptor-related protein complex 1, sigma 1 subunit VGF 7q22 VGF nerve growth factor inducible FLJ39237 7q22.1 FLJ39237 protein MGAT3 22q13.1 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase PLOD3 7q36 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ZNHIT1 7q22.1 zinc finger, HIT domain containing 1 CLDN15 7q22 claudin 15 TTC11 7q22.1 tetratricopeptide repeat domain 11 LOC392082 7 similar to Zn-alpha-2-glycoprotein precursor FLJ14117 COL26A1 7q22.1 collagen, type XXVI, alpha 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1297 18.6 158 - Takatsu, Folsch (1999)
    - - 958 15.7 133 - Takatsu
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnerve   highly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies ortholog to S cerevisiae,Yap17p
    Homologene
    FAMILY
  • adaptor complexes small subunits family
  • CATEGORY adaptor , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    text form the AP-1 assembly protein complex located at the Golgi vesicle
    basic FUNCTION
  • heterotetrameric adaptor complex AP-1 with AP1G, AP1M1/M2, AP1S1/2 transporting ligand receptor complexes from transGolgi network to lysosome
  • playing a a critical role in development of the skin and spinal cord (Montpetit 2008)
  • regulate clathrin-coated vesicle assembly, protein cargo sorting, and vesicular trafficking between organelles in eukaryotic cells (Montpetit 2008)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport , cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
  • part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles
  • heterotetrameric adaptor complex AP-1 with AP1G, AP1M1/M2, AP1S1/2
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MEDNIK
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in striatum and caudate from HD patients Mazarei 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS