UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:ZNT1
HGNC Symbol:SLC30A1
HGNC Description:solute carrier family 30 (zinc transporter), member 1
HGNC ID:11012
Superfamily:SLC
Chromosome:Chr.1(-): 211748381-211752099 GRCh37
Location:1q32.3
OMIM:609521
OMIM Phenotype:None
Accessions:AA853540,AI467909,AI621266,AW183618,BE744293,BF057
Nucleotide RefSeq:NM_021194
Protein RefSeq:NP_067017
Entrez:7779
Ensembl:ENSG00000170385
Isoforms:1
Evidence:Substrate In Vitro Evidence: 1. When transfected into a zinc-sensitive baby hamster kidney (BHK) cell line, ZNT1 conferred resistance to high levels of extracellular zinc. IHC revealed that ZNT1 localizes to the plasma membrane. Cells overexpressing ZNT1 were resistant to high concentrations of extracellular zinc and exhibited lower intracellular zinc levels (as measured by a metal-responsive reporter construct). Palmiter, RD; Findley, SD. EMBO J 1995 Feb15, 14(4):639-49. 2. ZNT1 is a rescue agent for cells maintained in very high extracellular zinc conditions (ZNT1 is an exporter). Cousins, RJ; McMahon, RJ. J Nutr 2000 May, 130 (5S suppl):1384S-7S (Review) PMID 10801948. Substrate In Vivo Evidence: 1. ZNT-1 is induced after transient forebrain ischemia in the gerbil (high levels of zinc in the neuronal area were either the reason for or the result of ZNT1 induction). Tsuda, M et al. J Neurosci 1997 Sept 1, 17(17):6678-84 PMID 9254680. 2. Intestinal ZNT1 mRNA increases when rats are fed a high zinc diet. McMahon, RJ; Cousins, RJ. PNAS 1998 Apr 28, 95(9):4841-6 PMID 9560190. Tissue Distribution Evidence: 1. ZNT1 is ubiquitously expressed. In the small intestine, ZNT1 is highly expressed in the duodenum and jejunum. Rat ZNT1 is localized at the basolateral surface of rat enterocytes lining the villi, indicating a ZNT1 function in zinc acquisition and/or retention. McMahon, RJ; Cousins, RJ. PNAS 1998 Apr 28, 95(9):4841-6 PMID 9560190.
Tissues:ubiquitous, basolateral membrane of enterocytes lining the villi
Type:protein-coding
Sets:0
PharmGKB ID:PA35882
HPRD ID:15366
Substrates:zinc
Trivial Names:ZNT1, ZRC1
Transcripts:NM_021194.2 [Chr.1(-): 211748381-211752099 GRCh37]
ENST00000367001 [Chr.1(-): 211744910-211752084 GRCh37]
Annotation History:View Events (1)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC30A1.

Variant Data

View all PMT variants for SLC30A1 on UCSC Genome Browser
Showing SNP features for transcript: NM_021194  
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.