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FLASH GENE
Symbol SLC30A5 contributors: mct - updated : 06-02-2018
HGNC name solute carrier family 30 (zinc transporter), member 5
HGNC id 19089
Location 5q13.2      Physical location : 68.389.817 - 68.425.879
Synonym name zinc transporter ZTL1
Synonym symbol(s) ZNT5, ZTL1, ZNTL1, ZnT-5
DNA
TYPE functioning gene
STRUCTURE 37.12 kb     18 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (TATA box)
Binding site   metal/iron
text structure
  • a putative TATA box
  • a core consensus metal response element
  • zinc-dependent binding of a zinc-induced protein to a specific sequence, the zinc transcriptional regulatory element (ZTRE), in the SLC30A5 (zinc transporter ZnT5) promoter
  • MAPPING cloned Y linked N status provisional
    Physical map
    LOC206227 5q13.1 similar to B-cell lymphoma 9 protein (Bcl-9) (Legless homolog) LOC359819 5q12.3 mitochondrial ribosomal protein L39 pseudogene EEF1B3 5q12-q14 eukaryotic translation elongation factor 1 beta 3 PIK3R1 5q12-q13 phosphoinositide-3-kinase, regulatory subunit, polypeptide 1 (p85 alpha) SLC30A5 5q12.1 solute carrier family 30 (zinc transporter), member 5 CCNB1 5q11-q12 cyclin B1 CENPH 5p15.2 centromere protein H MRPS36 5q13.3 mitochondrial ribosomal protein S36 CDK7 2p15-pcen cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase) KENAE 5q13.1 Kenae LOC285653 5q13.1 similar to chromosome 7 open reading frame 17 protein; 16.7kD protein TAF9 5q12 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa RAD17 5q12-q13.1 RAD17 homolog (S. pombe) FLJ30532 5q13.1 hypothetical protein FLJ30532 OCLN 5q13.1 occludin GTF2H2 5q13.1 general transcription factor IIH, polypeptide 2, 44kDa BIRC1 5q13.1 baculoviral IAP repeat-containing 1 SMN1 5q13.1 survival of motor neuron 1, telomeric LOC391791 5 similar to cadherin 12, type 2 preproprotein; Br-cadherin; cadherin-12; N-cadherin 2; brain-cadherin; neuronal cadherin 2; cadherin, neural type, 2 SMA3 5q13 SMA3 LOC389294 5 similar to bA110H4.2 (similar to membrane protein) LOC391792 5 similar to SMA3 protein LOC340089 5q13.2 similar to bA110H4.2 (similar to membrane protein) LOC391793 5 similar to cadherin 12, type 2 preproprotein; Br-cadherin; cadherin-12; N-cadherin 2; brain-cadherin; neuronal cadherin 2; cadherin, neural type, 2 SERF1A 5q13.1 small EDRK-rich factor 1A (telomeric) SMN2 5q13.1 survival of motor neuron 2, centromeric LOC389295 5 LOC389295 LOC389296 5 similar to Beta-glucuronidase precursor (Beta-G1) LOC389297 5 similar to bA110H4.2 (similar to membrane protein)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 splicing 4072 83.9 765 localized to the Golgi apparatus, where it appears to be involved in the delivery of zinc to enzymes entering the secretory pathway 2011 21887337
  • variant A
  • 5 prime region of exon 14 plus exons 15-17 (exons 15 to 17 include a signal that results in trafficking of SLC30A5 to the Golgi apparatus)
  • 4 splicing 1379 12.8 118 expression at the plasma membrane in intestinal cells as well as expression in the ER in various cell lines 2011 21887337
  • variant B
  • 3 - 1256 - 77 - 2011 21887337
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   predominantly
    Digestiveesophagus   highly
     liver   highly
     mouth   moderately
    Endocrineadrenal gland   highly
     neuroendocrinepituitary  highly
     pancreas   highly
     parathyroid   moderately
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemplacenta  highly
     male systemprostate  highly
    Respiratoryrespiratory tracttrachea  highly
    Skin/Tegumentskin   moderately
    Urinarybladder   highly
     kidney   highly
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveenterocyte
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    fluid/secretion moderately in blood and lymph
    at STAGE
    physiological period fetal, pregnancy
    Text pancreas, placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • fifteen predicted membrane-spanning domains with extracellular N and C termini
  • between transmembrane domains 9 and 10, ZTL1 has a zinc-binding histidine-rich intracellular loop
  • HOMOLOGY
    interspecies homolog to rattus Slc30a5 (94.9 pc)
    homolog to murine Slc30a5 (95.4 pc)
    Homologene
    FAMILY
  • cation diffusion facilitator family of transporters
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus,nucleolus
    text
  • endosomal vesicles
  • apical plasma membrane
  • basic FUNCTION
  • involved in zinc transport out of the cytoplasm, may be by sequestration into an intracellular compartmen
  • playing an important role for transporting zinc into secretory granules in pancreatic beta cells
  • required for contact hypersensitivity and mast cell-mediated delayed-type allergic response but not for immediate passive cutaneous anaphylaxis
  • selectively required for the mast cell-mediated delayed-type allergic response, and it is a novel player in mast cell activation
  • might play an important role in regulated GH secretion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS facilitated diffusion transport
    text
  • cellular zinc ion homeostasis
  • Zn2+ transport
  • regulation of proton transport
  • PATHWAY
    metabolism metal
    signaling
    a component heterodimerizing with SLC30A6 (cytosolic C-terminal tail of SLC30A5 is important in determining SLC30A6 as a partner molecule for heterodimer formation)
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
    cell & other
    REGULATION
    Other zinc-mediated transcriptional repression of the human SLC30A5 gene involves the zinc-dependent binding of a zinc-regulated protein factor to a palindromic sequence, the ZTRE, upstream of the end of the 5&
    8242;-UTR
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in milk zinc deficiency that are linked to low levels of the SLC30A5 and SLC30A6 zinc transporters
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • ZnT5-null mice presented with abnormal bone development and impaired growth compared to wild-type counterparts