UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NHE1
HGNC Symbol:SLC9A1
HGNC Description:solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
HGNC ID:11071
Superfamily:SLC
Chromosome:Chr.1(-): 27425300-27481621 GRCh37
Location:1p36.1-p35
OMIM:107310
OMIM Phenotype:None
Accessions:NM_003047
Nucleotide RefSeq:NM_003047
Protein RefSeq:NP_003038
Entrez:6548
Ensembl:ENSG00000090020
Isoforms:1
Evidence:Substrate In Vitro Evidence: Maintaining cytoplasmic acid-base balance: Na+ 115 CHO cells H+ 115 CHO cells Li+ 6 ? NH4+ 6 ? Tissue Distribution Evidence: 1 maintaining cytoplasmic acid-base balance 2 provides a major conduit for Na+ influx, coupled to Cl- and H2O uptake, which is required to restore cell volume to steady-state levels following cell shrinkage induced by acute elevations in external osmolality
Tissues:None
Type:protein-coding
Sets:V
PharmGKB ID:PA35928
HPRD ID:00123
Substrates:Na+, H+, Li+, NH4+
Trivial Names:APNH, NHE1, NHE-1
Transcripts:NM_003047.4 [Chr.1(-): 27425300-27481621 GRCh37]
ENST00000263980 [Chr.1(-): 27425306-27481401 GRCh37]
ENST00000374084 [Chr.1(-): 27440724-27493472 GRCh37]
ENST00000374086 [Chr.1(-): 27431942-27481089 GRCh37]
ENST00000374089 [Chr.1(-): 27425306-27430513 GRCh37]
ENST00000447808 [Chr.1(-): 27426836-27429286 GRCh37]
ENST00000490329 [Chr.1(-): 27425307-27426173 GRCh37]
ENST00000545949 [Chr.1(-): 27426578-27480973 GRCh37]
Annotation History:View Events (6)

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 SLC9A1.

Variant Data

View all PMT variants for SLC9A1 on UCSC Genome Browser
Showing SNP features for transcript: NM_003047  
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.