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

Summary

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

Location:: 15q21.1; 15q21.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (45479606..45522755, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (43287767..43331576, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (45771804..45814953, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

45479606..45522755 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047433023.1 → XP_047288979.1 probable proton-coupled zinc antiporter SLC30A4 isoform X3
XM_017022561.2 → XP_016878050.1 probable proton-coupled zinc antiporter SLC30A4 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

43287767..43331576 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

O14863, Q8TC39
XM_054378767.1 → XP_054234742.1 probable proton-coupled zinc antiporter SLC30A4 isoform X3
XM_054378766.1 → XP_054234741.1 probable proton-coupled zinc antiporter SLC30A4 isoform X2