Solute Carrier Family 9, Member 1

Alternative Names

  • SLC9A1
  • Antiporter, Sodium-Hydrogen Ion, Amiloride-Sensitive
  • APNH
  • Sodium/Hydrogen Exchanger 1
  • NHE1
  • Na+/H+ Antiporter

Associated Diseases

Preeclampsia/Eclampsia 1
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OMIM Number

107310

NCBI Gene ID

6548

Uniprot ID

P19634

Length

56,317 bases

No. of Exons

17

No. of isoforms

2

Protein Name

Sodium/hydrogen exchanger 1

Molecular Mass

90763 Da

Amino Acid Count

815

Genomic Location

chr1:27,098,809-27,155,125

Gene Map Locus
1p36.11

Description

This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [From RefSeq]

Molecular Genetics

The SLC9A1 gene is located on the short arm of chromosome 1. The gene consists of 12 exons and spans a length of about 68 Kb. The NHE1 protein is made of 815 amino acid residues and has a size of about 90 kDa. It is anchored to the plasma membrane by actin filaments. NHE1 activity is stimulated by several growth hormones and mitogens, including EGF and insulin. These activators have been shown to carry out phosphorylation of the protein by kinases as well as dephosphorylation by protein phosphatases. These changes in the phosphorylation status are expected to modulate the activity of the antiporter, most likely through changes in the interaction between the C-terminal cytoplasmic domain of the protein and the actin cytoskeleton.

Epidemiology in the Arab World

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Other Reports

Kuwait

Khan et al. (1999) studied NHE1 gene expression patterns in preeclampsia, by measuring the placental NHE1 protein levels in preeclampsic patients. NHE1 levels were found to be reduced in preeclamptic placentas. Khan et al. (1999) suggested that suppression of placental NHE1 could be involved in impairment in the uptake of water and electrolytes, thereby precipitating preeclampsia.

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