SLC30A5 solute carrier family 30 member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC30A5provided by HGNC
Official Full Name: solute carrier family 30 member 5provided by HGNC
Primary source: HGNC:HGNC:19089
See related: Ensembl:ENSG00000145740 MIM:607819; AllianceGenome:HGNC:19089
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ZNT5; ZTL1; ZNTL1; ZnT-5
Summary: This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]
Expression: Ubiquitous expression in thyroid (RPKM 17.6), gall bladder (RPKM 11.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q13.1-q13.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (69094014..69131069)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (69916495..69953585)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (68389841..68426896)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy.
Title: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy.
There was a significant increase in protein levels of ZnT5 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.
Overexpression of ZnT5 is accompanied by activation of PI3K/Akt pathway and inhibiting HG-induced apoptosis.
Title: Zinc transporter 5 and zinc transporter 7 induced by high glucose protects peritoneal mesothelial cells from undergoing apoptosis.
Results identify a unique class of transporters Znt5 and Znt8 and the structural motif required to discriminate between Zn(2+) and Cd(2+) transport.
Title: Histidine pairing at the metal transport site of mammalian ZnT transporters controls Zn2+ over Cd2+ selectivity.
exons 15 to 17 include a signal that results in trafficking of ZnT5 to the Golgi apparatus and that the 3' end of exon 14 includes a signal that leads to retention in the ER.
Title: Differential subcellular localization of the splice variants of the zinc transporter ZnT5 is dictated by the different C-terminal regions.
The cytosolic C-terminal tail of ZnT5 is important for its interaction with ZnT6 as a heterodimer.
Title: Demonstration and characterization of the heterodimerization of ZnT5 and ZnT6 in the early secretory pathway.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variation and antioxidant response gene expression in the bronchial airway epithelium of smokers at risk for lung cancer.
Data show that ZNT5 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-5 is up-regulated in response to cellular zinc depletion in Raji cells.
Title: Intracellular zinc homeostasis in leukocyte subsets is regulated by different expression of zinc exporters ZnT-1 to ZnT-9.
A novel zinc-regulated human zinc transporter, hZTL1, is localized to the enterocyte apical membrane
Title: A novel zinc-regulated human zinc transporter, hZTL1, is localized to the enterocyte apical membrane.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93799 (e-PCR)
- UniSTS:91908

STS-R73498 (e-PCR)
- UniSTS:27165

D5S2354 (e-PCR)
- UniSTS:473392

D8S2279 (e-PCR)
- UniSTS:473907

RH45168 (e-PCR)
- UniSTS:83165

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
enables zinc ion transmembrane transporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
acts_upstream_of_positive_effect GPI anchor biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cobalt ion transport	IDA Inferred from Direct Assay more info
involved_in insulin processing	TAS Traceable Author Statement more info
involved_in intracellular zinc ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in zinc ion import into Golgi lumen	IBA Inferred from Biological aspect of Ancestor more info
involved_in zinc ion import into Golgi lumen	IDA Inferred from Direct Assay more info	PubMed
involved_in zinc ion import into organelle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in zinc ion transmembrane transport	TAS Traceable Author Statement more info
acts_upstream_of_or_within zinc ion transport	IDA Inferred from Direct Assay more info

Component	Evidence Code	Pubs
located_in ER to Golgi transport vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi cis cisterna membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in secretory granule	IDA Inferred from Direct Assay more info
located_in secretory granule membrane	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: proton-coupled zinc antiporter SLC30A5

Names: solute carrier family 30 (zinc transporter), member 5; zinc transporter ZTL1; znT-like transporter 1

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.

Genomic

NG_030415.2 RefSeqGene

Range

5066..42121

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001251969.2 → NP_001238898.1 proton-coupled zinc antiporter SLC30A5 isoform 3

See identical proteins and their annotated locations for NP_001238898.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the 5' coding region, differs in the 3' UTR and lacks a large portion of the coding region, compared to variant 1. The encoded isoform (3) is significantly shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

BC017441, BC144349, DB090660

Consensus CDS

CCDS58955.1

UniProtKB/Swiss-Prot

Q8TAD4

Related

ENSP00000421251.1, ENST00000502979.1
NM_022902.5 → NP_075053.2 proton-coupled zinc antiporter SLC30A5 isoform 1

See identical proteins and their annotated locations for NP_075053.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL833716, BX537394, DB090660

Consensus CDS

CCDS3996.1

UniProtKB/Swiss-Prot

B7ZM89, Q6UX54, Q7L4M4, Q8TAD4, Q8TDG3, Q9BVY8, Q9H9H1

Related

ENSP00000379836.3, ENST00000396591.8

Conserved Domains (2) summary

TIGR01297
Location:428 → 729

CDF; cation diffusion facilitator family transporter

pfam01545
Location:428 → 649

Cation_efflux; Cation efflux family
NM_024055.5 → NP_076960.1 proton-coupled zinc antiporter SLC30A5 isoform 2

See identical proteins and their annotated locations for NP_076960.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and lacks a large portion of the coding region, compared to variant 1. The encoded isoform (2) is significantly shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

BC017441, DB090660

Consensus CDS

CCDS34173.1

UniProtKB/Swiss-Prot

Q8TAD4

Related

ENSP00000370241.4, ENST00000380860.8

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_000005.10 Reference GRCh38.p14 Primary Assembly

Range

69094014..69131069

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006714672.5 → XP_006714735.1 proton-coupled zinc antiporter SLC30A5 isoform X2

Conserved Domains (2) summary

COG1230
Location:412 → 670

CzcD; Co/Zn/Cd efflux system component [Inorganic ion transport and metabolism]

pfam01545
Location:428 → 649

Cation_efflux; Cation efflux family
XM_005248569.4 → XP_005248626.1 proton-coupled zinc antiporter SLC30A5 isoform X1

UniProtKB/TrEMBL

Q9H9X0

Conserved Domains (2) summary

TIGR01297
Location:387 → 688

CDF; cation diffusion facilitator family transporter

pfam01545
Location:387 → 608

Cation_efflux; Cation efflux family
XM_017009749.2 → XP_016865238.1 proton-coupled zinc antiporter SLC30A5 isoform X3

UniProtKB/TrEMBL

Q9H9X0

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

69916495..69953585

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054353179.1 → XP_054209154.1 proton-coupled zinc antiporter SLC30A5 isoform X2
XM_054353178.1 → XP_054209153.1 proton-coupled zinc antiporter SLC30A5 isoform X1
XM_054353180.1 → XP_054209155.1 proton-coupled zinc antiporter SLC30A5 isoform X3