|  Help  |  About  |  Contact Us

Protein Coding Gene : Slc9a1 solute carrier family 9 (sodium/hydrogen exchanger), member 1

Primary Identifier  MGI:102462 Organism  mouse, laboratory
Chromosome  4 NCBI Gene Number  20544
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables sodium:proton antiporter activity. Acts upstream of or within several processes, including cardiac muscle cell differentiation; response to acidic pH; and sodium ion transport. Located in apical plasma membrane. Part of transporter complex. Is expressed in several structures, including alimentary system; early conceptus; gonad; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 19 and congestive heart failure. Orthologous to human SLC9A1 (solute carrier family 9 member A1).
PHENOTYPE: Two-thirds of homozygous null mice die before weaning with reduced body weight, ataxia, a relatively mild stomach phenotype, and a postmortem appearance suggestive of death by a convulsive seizure. Homozygotes also display impaired fluid secretion and NaCl absorption in their parotid glands. [provided by MGI curators]
  • synonyms:
  • MGI:1196422,
  • AW554487,
  • swe,
  • antiporter,
  • Slc9a1,
  • slow-wave epilepsy,
  • MGD-MRK-1362,
  • solute carrier family 9 (sodium/hydrogen exchanger), member 1,
  • sodium/hydrogen exchanger 1 (antiporter, Na+/H+, amiloride sensitive),
  • MGD-MRK-12876,
  • antiporter, Na+/H+,
  • MGD-MRK-19299,
  • MGI:2140598,
  • expressed sequence AW554487,
  • Nhe1,
  • Apnh,
  • Nhe-1

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

4 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

9 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For