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

Gene ID: 7782, updated on 27-Nov-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
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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

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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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