|HGNC Description:||solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1|
|Chromosome:||Chr.1(-): 27425300-27481621 GRCh37|
|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|
|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.
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.
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.