Version: 8.0.0Date: Tue Jan 28 2025
Gene
Enpp1
- Species
- Mus musculus
- Symbol
- Enpp1
- Name
- ectonucleotide pyrophosphatase/phosphodiesterase 1
- Synonyms
- 4833416E15Rik
- AI428932
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides; metal ion binding activity; and phosphoric ester hydrolase activity. Involved in several processes, including cell surface receptor signaling pathway; leukocyte differentiation; and skeletal system development. Acts upstream of with a positive effect on cell morphogenesis. Acts upstream of or within with a negative effect on protein poly-ADP-ribosylation. Acts upstream of or within negative regulation of ossification. Located in cell surface; extracellular space; and plasma membrane. Is active in extracellular region. Is expressed in several structures, including central nervous system; integumental system; limb; sensory organ; and tooth. Used to study arterial calcification of infancy; bone disease (multiple); middle ear disease (multiple); and ossification of the posterior longitudinal ligament of spine. Human ortholog(s) of this gene implicated in several diseases, including arterial calcification of infancy; end stage renal disease; obesity; ossification of the posterior longitudinal ligament of spine; and type 2 diabetes mellitus. Orthologous to human ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1).
- MGI Description
- PHENOTYPE: Homozygous KO causes hyperostosis (leading to ossific intervertebral fusion, peripheral joint ankylosis and tendon calcification) and spontaneous arterial and articular cartilage calcification, and altered adipocyte maturation. Homozygosity for a spontaneous point mutation leads to calcification off all joints, and decreased fat mass and food intake, leading to premature death. [provided by MGI curators]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR10151
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
Phenotype Term | Annotation details | References |
|---|---|---|
| No records match query. Try removing filters. | ||
Showing 0 - 0 of 0 rows
per page
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||
Showing 0 - 0 of 0 rows
per page
Sequence Feature Viewer
- Genome location
- Chr10:24513812...24588057 - (74.25 kb)
- Assembly version
- GRCm39
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.