SLC30A9 solute carrier family 30 member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC30A9provided by HGNC
Official Full Name: solute carrier family 30 member 9provided by HGNC
Primary source: HGNC:HGNC:1329
See related: Ensembl:ENSG00000014824 MIM:604604; AllianceGenome:HGNC:1329
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: HUEL; ZNT9; GAC63; C4orf1; BILAPES
Summary: Predicted to enable nuclear receptor coactivator activity. Involved in cellular zinc ion homeostasis and zinc ion transport. Located in several cellular components, including cytoplasmic vesicle; cytoskeleton; and endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney (RPKM 32.5), brain (RPKM 27.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p13

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (41990530..42090461)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (41964357..42064385)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (41992547..42092478)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Title: Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
SLC-30A9 is required for Zn(2+) homeostasis, Zn(2+) mobilization, and mitochondrial health.
Title: SLC-30A9 is required for Zn(2+) homeostasis, Zn(2+) mobilization, and mitochondrial health.
Zinc Transporter 9 (SLC30A9) Expression Is Decreased in the Vaginal Tissues of Menopausal Women.
Title: Zinc Transporter 9 (SLC30A9) Expression Is Decreased in the Vaginal Tissues of Menopausal Women.
Genetic Variants May Play Role in Opioid Dependence.
Title: Genetic Variants May Play Role in Opioid Dependence.
Expression of zinc transporters ZIP4, ZIP14 and ZnT9 in hepatic carcinogenesis-An immunohistochemical study
Title: Expression of zinc transporters ZIP4, ZIP14 and ZnT9 in hepatic carcinogenesis-An immunohistochemical study.
SLC30A9 has zinc transport properties affecting intracellular zinc homeostasis, and that the molecular mechanism of the disease is through defective function of this novel activity of SLC30A9
Title: SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
ZNT9 expression in glioma tumors was not associated with tumor grade or IDH1 mutation status.
Title: Expression Profile Analysis of Zinc Transporters (ZIP4, ZIP9, ZIP11, ZnT9) in Gliomas and their Correlation with IDH1 Mutation Status.
Observational study of gene-disease association. (HuGE Navigator)
Title: Polymorphisms in mitochondrial genes and prostate cancer risk.
hZnT-9 was expressed at low levels in leukocytes.
Title: Intracellular zinc homeostasis in leukocyte subsets is regulated by different expression of zinc exporters ZnT-1 to ZnT-9.
Results indicate that HUEL, which shares significant homology with the DNA-binding domain of XPA, is likely to be a conserved, housekeeping gene that is intimately linked with cellular replication, DNA synthesis and/or transcriptional regulation.
Title: The novel human HUEL (C4orf1) protein shares homology with the DNA-binding domain of the XPA DNA repair protein and displays nuclear translocation in a cell cycle-dependent manner.

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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

Associated conditions

Description	Tests
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MedGen: C4539828 OMIM: 617595 GeneReviews: Not available	Compare labs

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

STS-AA016310 (e-PCR)
- UniSTS:74501

WI-21988 (e-PCR)
- UniSTS:73239

SHGC-68054 (e-PCR)
- UniSTS:83247

SHGC4-259 (e-PCR)
- UniSTS:19305

D4S2797 (e-PCR)
- UniSTS:43901

G32534 (e-PCR)
- UniSTS:117118

G60273 (e-PCR)
- UniSTS:137378

GDB:451712 (e-PCR)
- UniSTS:157352

A009G43 (e-PCR)
- UniSTS:18424

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antiporter activity	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables nuclear receptor binding	IEA Inferred from Electronic Annotation more info
enables nuclear receptor coactivator activity	IEA Inferred from Electronic Annotation more info
enables zinc ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
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 nucleotide-excision repair	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitochondrion organization	IDA Inferred from Direct Assay more info	PubMed
involved_in zinc ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in zinc ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in zinc ion transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: proton-coupled zinc antiporter SLC30A9, mitochondrial

Names: GRIP1-dependent nuclear receptor coactivator; expressed in human embryonic lung; human embryonic lung protein; solute carrier family 30 (zinc transporter), member 9; zinc transporter 9; znT-9

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.