SLC39A7 solute carrier family 39 member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC39A7provided by HGNC
Official Full Name: solute carrier family 39 member 7provided by HGNC
Primary source: HGNC:HGNC:4927
See related: Ensembl:ENSG00000112473 MIM:601416; AllianceGenome:HGNC:4927
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: KE4; AGM9; HKE4; ZIP7; RING5; H2-KE4; D6S115E; D6S2244E
Summary: The protein encoded by this gene transports zinc from the Golgi and endoplasmic reticulum to the cytoplasm. This transport may be important for activation of tyrosine kinases, some of which could be involved in cancer progression. Therefore, modulation of the encoded protein could be useful as a therapeutic agent against cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Expression: Ubiquitous expression in prostate (RPKM 58.8), placenta (RPKM 52.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (33200867..33204437)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (33022220..33025790)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (33168644..33172214)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

SLC39A7 upregulation links to skin fibrosis in systemic sclerosis via TGF-beta/SMAD pathway.
Title: SLC39A7 upregulation links to skin fibrosis in systemic sclerosis via TGF-β/SMAD pathway.
Zinc transporter ZIP7 is a novel determinant of ferroptosis.
Title: Zinc transporter ZIP7 is a novel determinant of ferroptosis.
Evaluation of the prognostic values of solute carrier (SLC) family 39 genes for patients with lung adenocarcinoma.
Title: Evaluation of the prognostic values of solute carrier (SLC) family 39 genes for patients with lung adenocarcinoma.
SLC39A7, regulated by miR-139-5p, induces cell proliferation, migration and inhibits apoptosis in gastric cancer via Akt/mTOR signaling pathway.
Title: SLC39A7, regulated by miR-139-5p, induces cell proliferation, migration and inhibits apoptosis in gastric cancer via Akt/mTOR signaling pathway.
Zinc transporter SLC39A7 relieves zinc deficiency to suppress alternative macrophage activation and impairment of phagocytosis.
Title: Zinc transporter SLC39A7 relieves zinc deficiency to suppress alternative macrophage activation and impairment of phagocytosis.
The loss of SLC39A7 resulted in augmented ER stress and impaired receptor trafficking, thereby globally affecting downstream signaling.
Title: Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking.
Using the new pS(275)S(276)ZIP7 antibody which only recognises activated ZIP7 (pZIP7), this study demonstrated that the hyperactivation of ZIP7 is prevalent in tamoxifen-resistant breast cancer cells.
Title: Activated zinc transporter ZIP7 as an indicator of anti-hormone resistance in breast cancer.
ZIP7 may be essential for the control of endoplasmic reticulum (ER) localized zinc and mechanisms that disrupt this process may lead to ER-stress and contribute to insulin resistance (IR).
Title: Targeting the Zinc Transporter ZIP7 in the Treatment of Insulin Resistance and Type 2 Diabetes.
Data indicate a form of autosomal recessive agammaglobulinemia caused by hypomorphic mutations in the endoplasmic reticulum-to-cytoplasmic zinc transporter solute carrier family 39 (zinc transporter), member 7 (ZIP7).
Title: An essential role for the Zn(2+) transporter ZIP7 in B cell development.
Genetic ablation of ZIP7 results in decreased levels of cytosolic zinc, increased endoplasmic reticulum zinc levels, and induction of endoplasmic reticulum stress.
Title: The Zinc Transporter SLC39A7 (ZIP7) Is Essential for Regulation of Cytosolic Zinc Levels.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

Associated conditions

Description	Tests
Agammaglobulinemia 9, autosomal recessive MedGen: C5562059 OMIM: 619693 GeneReviews: Not available	not available

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

MARC_5891-5892:991939781:1 (e-PCR)
- UniSTS:231181

MARC_5891-5892:997299401:1 (e-PCR)
- UniSTS:231181

RH66534 (e-PCR)
- UniSTS:52138

SLC39A7_3898 (e-PCR)
- UniSTS:462545

PMC321570P8 (e-PCR)
- UniSTS:273121

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	IMP Inferred from Mutant Phenotype more info	PubMed
enables zinc ion transmembrane transporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular zinc ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular zinc ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ferroptosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin epidermis development	IEA Inferred from Electronic Annotation more info
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
involved_in zinc ion transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: zinc transporter SLC39A7

Names: HLA class II region expressed gene KE4; Ke4 gene, mouse, human homolog of; histidine-rich membrane protein Ke4; really interesting new gene 5 protein; solute carrier family 39 (zinc transporter), member 7; zinc transporter 7; zrt-, Irt-like protein 7

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_001077516.2 → NP_001070984.1 zinc transporter SLC39A7 isoform 1 precursor

See identical proteins and their annotated locations for NP_001070984.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

BC000645, DA573310

Consensus CDS

CCDS43453.1

UniProtKB/Swiss-Prot

B0UXF6, Q5STP8, Q92504, Q9UIQ0

UniProtKB/TrEMBL

A0A024RCX7, A0A1U9X8J5, A0A1U9X8K3, A0A1U9X8L9

Related

ENSP00000363807.3, ENST00000374675.7

Conserved Domains (1) summary

pfam02535
Location:132 → 446

Zip; ZIP Zinc transporter
NM_001288777.2 → NP_001275706.1 zinc transporter SLC39A7 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which contains a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK303158, BC000645

UniProtKB/Swiss-Prot

Q92504

UniProtKB/TrEMBL

B4DZZ8

Conserved Domains (1) summary

pfam02535
Location:16 → 321

Zip; ZIP Zinc transporter
NM_006979.3 → NP_008910.2 zinc transporter SLC39A7 isoform 1 precursor

See identical proteins and their annotated locations for NP_008910.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same protein.

Source sequence(s)

BC000645, DA573310, DR158641

Consensus CDS

CCDS43453.1

UniProtKB/Swiss-Prot

B0UXF6, Q5STP8, Q92504, Q9UIQ0

UniProtKB/TrEMBL

A0A024RCX7, A0A1U9X8J5, A0A1U9X8K3, A0A1U9X8L9

Related

ENSP00000363809.3, ENST00000374677.8

Conserved Domains (1) summary

pfam02535
Location:132 → 446

Zip; ZIP Zinc transporter