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    SLC30A4 solute carrier family 30 member 4 [ Homo sapiens (human) ]

    Gene ID: 7782, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC30A4provided by HGNC
    Official Full Name
    solute carrier family 30 member 4provided by HGNC
    Primary source
    HGNC:HGNC:11015
    See related
    Ensembl:ENSG00000104154 MIM:602095; AllianceGenome:HGNC:11015
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZNT4; znT-4
    Summary
    Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in prostate (RPKM 22.0), testis (RPKM 4.0) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC30A4 in Genome Data Viewer
    Location:
    15q21.1; 15q21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (45479606..45522755, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (43287767..43331576, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45771804..45814953, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45741730-45742660 Neighboring gene uncharacterized LOC124903483 Neighboring gene SLC30A4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45746566-45747066 Neighboring gene RNA, U7 small nuclear 5 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9361 Neighboring gene NANOG hESC enhancer GRCh37_chr15:45751227-45751805 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:45764241-45764930 Neighboring gene small nucleolar RNA U13 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 46 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6410 Neighboring gene small nucleolar RNA, H/ACA box 41B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45839047-45839548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45839549-45840048 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:45840653-45841852 Neighboring gene developmental pluripotency associated 5 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica. Bleck O, et al. Arch Dermatol Res, 2001 Aug. PMID 11686514
    2. ZNT4 gene is not responsible for acrodermatitis enteropathica in Japanese families. Nakano A, et al. Hum Genet, 2002 Feb. PMID 11935329
    3. Constitutive expression of hZnT4 zinc transporter in human breast epithelial cells. Michalczyk AA, et al. Biochem J, 2002 May 15. PMID 11988082, Free PMC Article
    4. Analysis of zinc transporter, hZnT4 ( Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk. Michalczyk A, et al. Hum Genet, 2003 Aug. PMID 12743795
    5. Differential expression of hZnT-4 in human prostate tissues. Beck FW, et al. Prostate, 2004 Mar 1. PMID 14968438

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Roles of ZnT1 and ZnT4 in Glucose-Stimulated Zinc Secretion in Prostate Epithelial Cells.
      Title: The Roles of ZnT1 and ZnT4 in Glucose-Stimulated Zinc Secretion in Prostate Epithelial Cells.
    2. There was a significant increase in protein levels of ZnT4 in the prefrontal cortex in Major depression disorder, relative to control subjects.
      Title: Zinc transporters protein level in postmortem brain of depressed subjects and suicide victims.
    3. TRPML1 works in concert with ZnT4 to regulate zinc translocation between the cytoplasm and lysosomes.
      Title: Zinc-dependent lysosomal enlargement in TRPML1-deficient cells involves MTF-1 transcription factor and ZnT4 (Slc30a4) transporter.
    4. The loss of ZnT4 in airway inflammation contributes to airway epithelium vulnerability in diseases such as asthma.
      Title: Apical localization of zinc transporter ZnT4 in human airway epithelial cells and its loss in a murine model of allergic airway inflammation.
    5. our results suggest that alterations in Zn transport proteins ZnT-1, ZnT-4 and ZnT-6 may contribute to the pathology observed in preclinical Alzheimer's disease subjects before onset of clinical symptoms
      Title: Alterations of zinc transporter proteins ZnT-1, ZnT-4 and ZnT-6 in preclinical Alzheimer's disease brain.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
    7. Data show that ZNT4 is extensively present in the Abeta-positive plaques in the cortex of human AD brains.
      Title: Abundant expression of zinc transporters in the amyloid plaques of Alzheimer's disease brain.
    8. hZnT-4 is found in the plasma membrane. It is most highly expressed in Molt-4 cells, up-regulated after treatment with phytohemagglutinin & is responsible for the measured decrease of intracellular zinc content after high zinc exposure.
      Title: Intracellular zinc homeostasis in leukocyte subsets is regulated by different expression of zinc exporters ZnT-1 to ZnT-9.
    9. Decreased hZnT-4 expression is associated with prostate tissue abnormalities independent of total cellular zinc content.
      Title: Differential expression of hZnT-4 in human prostate tissues.
    10. hZnT4 is constitutively expressed in the human breast and may be one of the several members of the ZnT family involved in the transport of zinc into milk
      Title: Constitutive expression of hZnT4 zinc transporter in human breast epithelial cells.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat FITC-labeled Tat 47-59 peptide downregulates gene expression of solute carrier family 30 (zinc transporter), member 4 (SLC30A4) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables antiporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in response to toxic substance IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to zinc ion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in zinc export across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in zinc ion import into lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in zinc ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in zinc ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    probable proton-coupled zinc antiporter SLC30A4
    Names
    solute carrier family 30 (zinc transporter), member 4
    zinc transporter 4

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001321036.2 → NP_001307965.1  probable proton-coupled zinc antiporter SLC30A4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025580, BM789500, HY026192
      Conserved Domains (2) summary
      COG1230
      Location:109 → 180
      CzcD; Co/Zn/Cd efflux system component [Inorganic ion transport and metabolism]
      pfam01545
      Location:123 → 179
      Cation_efflux; Cation efflux family

    2. NM_013309.6 → NP_037441.2  probable proton-coupled zinc antiporter SLC30A4 isoform 1

      See identical proteins and their annotated locations for NP_037441.2

      Status: VALIDATED

      Source sequence(s)
      AC025580, BC026089, BC042520
      Consensus CDS
      CCDS10125.1
      UniProtKB/Swiss-Prot
      O14863, Q8TC39
      Related
      ENSP00000261867.3, ENST00000261867.5
      Conserved Domains (1) summary
      TIGR01297
      Location:123 → 413
      CDF; cation diffusion facilitator family transporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      45479606..45522755 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022560.3 → XP_016878049.1  probable proton-coupled zinc antiporter SLC30A4 isoform X1

      UniProtKB/Swiss-Prot
      O14863, Q8TC39
      Conserved Domains (1) summary
      TIGR01297
      Location:123 → 413
      CDF; cation diffusion facilitator family transporter

    2. XM_047433023.1 → XP_047288979.1  probable proton-coupled zinc antiporter SLC30A4 isoform X3

    3. XM_017022561.2 → XP_016878050.1  probable proton-coupled zinc antiporter SLC30A4 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      43287767..43331576 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378765.1 → XP_054234740.1  probable proton-coupled zinc antiporter SLC30A4 isoform X1

      UniProtKB/Swiss-Prot
      O14863, Q8TC39

    2. XM_054378767.1 → XP_054234742.1  probable proton-coupled zinc antiporter SLC30A4 isoform X3

    3. XM_054378766.1 → XP_054234741.1  probable proton-coupled zinc antiporter SLC30A4 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14863.2 GenPept UniProtKB/Swiss-Prot:O14863

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