Gene

Nherf1

Species
Mus musculus
Symbol
Nherf1
Name
NHERF family PDZ scaffold protein 1
Synonyms
  • EBP-50
  • NHE-RF
Biotype
protein coding gene
Automated Description
Enables dopamine receptor binding activity and phosphatase binding activity. Involved in several processes, including bile acid secretion; maintenance of epithelial cell apical/basal polarity; and negative regulation of signal transduction. Acts upstream of or within several processes, including G protein-coupled dopamine receptor signaling pathway; auditory receptor cell stereocilium organization; and cerebrospinal fluid circulation. Located in several cellular components, including brush border membrane; sperm midpiece; and stereocilium tip. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; pleura; and sensory organ. Human ortholog(s) of this gene implicated in hypophosphatemic nephrolithiasis/osteoporosis 2. Orthologous to human NHERF1 (NHERF family PDZ scaffold protein 1).
MGI Description
PHENOTYPE: For one allele homozygous null mice exhibit renal phosphate wasting, reduced fertility and high female mortality rate at birth and postnatally. For a second allele homozygous null mice exhibit hypophosphatemia, increased intestinal goblet cell numbers and abnormal intestinal epithelial cells. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR14191
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
115.056M115.058M115.060M115.062M115.064M115.066M115.068M115.070M115.072M

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions