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FLASH GENE
Symbol PACS1 contributors: shn/mct - updated : 14-01-2015
HGNC name phosphofurin acidic cluster sorting protein 1
HGNC id 30032
Corresponding disease
MRD17 mental retardation autosomal dominant 17
Location 11q13.1      Physical location : 65.837.823 - 66.012.213
Synonym name cytosolic sorting protein PACS-1
Synonym symbol(s) FLJ10209, KIAA1175, PACS-1
DNA
TYPE functioning gene
STRUCTURE 174.39 kb     24 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D11S4205 - D11S1883 - PACS1 - D11S913 - D11S1889 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
24 splicing 4488 104 963 - 2009 19710307
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver   highly
Endocrinepancreas   highly
Nervousbrain     Homo sapiensFetal
 nervecranial nerveolfactory nerve highly Homo sapiens
Urinarykidney   highly
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunelymphocyte
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion blood
at STAGE
physiological period embryo
Text upregulated during human embryonic brain development
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a acidic cluster sorting motifs
  • a cargo(furin)-binding region (FBR) that bind cargo proteins, sorting adaptors, and cellular kinase
  • mono polymer heteromer , trimer
    HOMOLOGY
    interspecies ortholog to Pacs1, Rattus norvegicus
    ortholog to Pacs1, Mus musculus
    ortholog to PACS1, Pan troglodytes
    ortholog to pacs1, Danio rerio
    intraspecies paralog to PACS2
    Homologene
    FAMILY
  • PACS family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,nuclear envelope
    text localized in the paranuclear region, probably the TGN
    basic FUNCTION
  • involved in controlling the correct subcellular localization of integral membrane proteins containing acidic cluster sorting motifs
  • combined with Nef, usurping the ARF6 endocytic pathway by a PI3K-dependent process to remove cell surface MHC-I molecules
  • playing a putative role in the localization of trans-Golgi network (TGN) membrane proteins retrograde and anterograde
  • Golgi
  • endosome transport
  • plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN
  • recruits CK2 to phosphorylate Ser278, thereby regulating cargo binding
  • has a role in the recycling of internalized cargo from early endosomes to the cell surface and trafficking of cargo to the primary cilium in epithelial cells
  • targets nephrocystin to the base of primary cilium
  • regulates GGA3 binding to cargo
  • role in the ciliary trafficking of the olfactory cyclic-nucleotide-gated (CNG) channel
  • intracellular sorting protein that mediates its effects through the binding of acidic clusters on cargo protein
  • trans-Golgi-membrane regulator that directs phosphorylated cargo molecules
  • is potentially necessary for the formation of craniofacial structures and that perturbation of its functions results in a specific syndromic intellectual disability phenotype
  • trans-golgi-membrane traffic regulator
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming a ternary complex with furin and AP-1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding cargo proteins, adaptors, and signaling molecules
  • FURIN
  • interacting with AP1 and AP3
  • HIV-1 Nef protein
  • polycystic kidney disease 2 (TRPP2)
  • subcellular localization and function of polycystin-2 are directed by PACS1
  • required for the TGN localization of furin
  • binding VAMP4
  • interaction of NPHP1/PACS1 is negatively regulated by NPHP4
  • interaction of HIV1 Nef with the sorting proteins PACS1 and PACS2 mediates key signaling and trafficking steps required for Nef-mediated MHC-I down-regulation
  • cell & other
    REGULATION
    Other phosphorylated upon DNA damage by ATM or ATR
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD17
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS