Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol AP4S1 contributors: mct/ - updated : 06-07-2011
HGNC name adaptor-related protein complex 4, sigma 1 subunit
HGNC id 575
Corresponding disease
SPG52 spastic paraplegia 52
Location 14q12      Physical location : 31.494.682 - 31.562.634
Synonym symbol(s) AP47B, CLA20, CLAPS4, FLJ32366
DNA
TYPE functioning gene
STRUCTURE 60.00 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
CBPINP 14q12 CCNDBP1 interactor pseudogene KIAA1333 14q12 KIAA1333 C14orf163 14q12 chromosome 14 open reading frame 163 UBE2CP1 14 ubiquitin-conjugating enzyme E2C pseudogene 1 RPL12P5 14 ribosomal protein L12 pseudogene 5 RPL27P1 14 ribosomal protein L27 pseudogene 1 COCH 14q12-q13 coagulation factor C homolog, cochlin (Limulus polyphemus) STRN3 14q13-q21 striatin, calmodulin binding protein 3 AP4S1 14q12 adaptor-related protein complex 4, sigma 1 subunit HECTD1 14q12 HECT domain containing 1 NARSP 14 asparaginyl-tRNA synthetase pseudogene C14orf125 14 chromosome 14 open reading frame 125 ATP5GP4 14q12 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 4 LOC387979 14 similar to RIKEN cDNA D930036F22 gene LOC387980 14 LOC387980 C14orf126 14 chromosome 14 open reading frame 126 GPR33 14q12 G protein-coupled receptor 33, pseudogene C14orf127 14 chromosome 14 open reading frame 127 LOC387981 14 LOC387981 C14orf128 14 chromosome 14 open reading frame 128 ARHGAP5 14q11-q12 Rho GTPase activating protein 5
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 1797 18 159 - 1999 10436028
1 - 1256 17 144 - 1999 10436028
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , tetramer
HOMOLOGY
interspecies homolog to murine Ap4s1
homolog to C.elegans T20B5.1
Homologene
FAMILY adaptor complexes medium subunit family
CATEGORY adaptor , transport carrier
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,Golgi
text associated with trans Golgi network
basic FUNCTION
  • involved in recognition and sorting of cargo proteins with tyrosine-based motifs
  • involved in targeting proteins from the trans Golgi network to the endosomal-lysosomal system
  • crucial role of AP4-mediated trafficking in brain development and functioning
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport
    text non selective vesicle and coated vesicle transport
    PATHWAY
    metabolism
    signaling
    a component
  • submit of an adaptator-like heterotetrameric (AP-4) complex composed of two large chains (epsilon/AP4E1 and beta/AP4B1),a medium chain (MU/AP4M1) and a small chain (sigma AP4S1)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG52
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS