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FLASH GENE
Symbol SLC39A4 contributors: snh - updated : 23-02-2009
HGNC name solute carrier family 39 (zinc transporter), member 4
HGNC id 17129
Corresponding disease
AEZ acrodermatitis enteropathica
Location 8q24.3      Physical location : 145.637.798 - 145.642.273
Synonym name
  • zinc transporter ZIP4
  • acrodermatitis enteropathica, zinc-deficiency type
  • Zrt- and Irt-like protein 4
  • Synonym symbol(s) ZIP4, AEZ, FLJ20327, MGC74741
    DNA
    TYPE functioning gene
    STRUCTURE 4.48 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D8S1836 - D8S373 - SLC39A4 - qter
    Physical map
    LOC392276 8 similar to RIKEN cDNA 1700091F14 LOC392277 8 similar to RIKEN cDNA 1700091F14 KIAA1833 8q24.3 hypothetical protein KIAA1833 BOP1 8q24.3 block of proliferation 1 HSF1 8q24.3 heat shock transcription factor 1 DGAT1 8q24.3 diacylglycerol O-acyltransferase homolog 1 (mouse) DKFZp547F072 8q24.3 hypothetical protein DKFZp547F072 SCRT1 8q24.3 scratch homolog 1, zinc finger protein (Drosophila) LOC340393 8q24.3 similar to unnmaed protein product FBXL6 8q24-q25 F-box and leucine-rich repeat protein 6 FLJ11856 8q24.3 putative G-protein coupled receptor GPCR41 ADCK5 8q24.3 aarF domain containing kinase 5 CPSF1 8q24-q23 cleavage and polyadenylation specific factor 1, 160kDa SLC39A4 8q24.3 solute carrier family 39 (zinc transporter), member 4 VPS28 8q24.3 vacuolar protein sorting 28 (yeast) NFKBIL2 8q24.3 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2 MGC13010 8q24.3 hypothetical protein MGC13010 KIFC2 8q24.3 likely ortholog of mouse kinesin family member C2 FOXH1 8q24.3 forkhead box H1 PPP1R16A 8q24.3 protein phosphatase 1, regulatory (inhibitor) subunit 16A GPT 8q24.3 glutamic-pyruvate transaminase (alanine aminotransferase) LOC113655 8q24.3 hypothetical protein BC011982 RECQL4 8q24.3 RecQ protein-like 4 KIAA0014 8q24.3 RecQ protein-like 4 LOC389698 8 LOC389698 KIAA1688 8q24.3 KIAA1688 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2342 73 622 intestin, pancreas (beta-cells) 2004 15358787
    Westren blot abalysis from intestine and visceral yolk sac revealed a major 37 kDa band, which represents ZIP4 lacking the N-terminal extracellular domain or ectodomain (PMID: 18936158)
    12 - 2192 75 647 intestin, pancreas (beta-cells) 2004 15358787
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestineduodenum highly
     intestinesmall intestineileum highly
     intestinesmall intestine  moderately
     intestinesmall intestinejejunum highly
     intestinelarge intestinecolon highly
     intestinelarge intestinecaecum highly
     stomach   lowly
    Endocrinepancreasislet of Langerhans  predominantly
    Respiratorylung   lowly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveenterocyte
    cell lineage
    cell lines ZIP4 mRNA expression is significantly higher in human pancreatic cancer cells than normal pancreatic ductal epithelial cells
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight transmembrane domains organized in two blocks of three and five segments separated by a variable intracytoplasmic metal binding site
  • a cytoplasmic histidine-rich domain essential for ubiquitin-dependent degradation of ZIP4 and protection against zinc toxicity
  • an ectodomain which is cleaved and internalized during periods of zinc deficiency
  • HOMOLOGY
    interspecies ortholog to Slc39a4, mus musculus
    ortholog to Slc39a4, Rattus norvegicus
    ortholog to SLC39A4, Pan troglodytes
    ortholog to slc39a4, Danio rerio
    Homologene
    FAMILY
  • zinc/iron-regulated transporter-like protein (ZIP) family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • involved in intestinal absorption and homeostasis of zinc
  • zinc importer required for zinc uptake in enterocytes and other cell types
  • playing an important role in maintaining the cellular zinc level by uptaking dietary zinc into intestinal epithelial cells and releasing zinc from vesicular compartments
  • in mice ZIP4 is essential for survival of the early embryo,and heterozygosity hypersensitizes mice to the effects of zinc deficiency
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text zinc specific transporter
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AEZ
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    significantly higher in pancreatic cancer cells than pancreatic ductal epithelium
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivepancreas
    targeted to control pancreatic cancer growth
    ANIMAL & CELL MODELS
    bovine hereditary zinc deficiency has a clinical presentation similar to acrodermatitis enteropathica in humans