Enpp1 Gene Summary [Mouse]

This gene encodes a member of the nucleoside pyrophosphatase/phosphodiesterase family of enzymes that catalyzes the hydrolysis of pyrophosphate and phosphodiester bonds in nucleotide triphosphates and oligonucleotides, respectively, to generate nucleoside 5'-monophosphates. The encoded protein is a type II transmembrane glycoprotein that negatively regulates bone mineralization. Mice harboring a nonsense mutation in this gene, termed tiptoe walking (ttw), exhibit ectopic ossification of the spinal ligaments. The encoded protein binds to the insulin receptor, inhibits downstream signaling events and induces insulin resistance and glucose tolerance. This gene is located adjacent to a paralog on chromosome 10. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

Details

Type
Protein Coding
Official Symbol
Enpp1
Official Name
ectonucleotide pyrophosphatase/phosphodiesterase 1 [Source:MGI Symbol;Acc:MGI:97370]
Ensembl ID
ENSMUSG00000037370
Bio databases IDs NCBI: 18605 Ensembl: ENSMUSG00000037370
Aliases ectonucleotide pyrophosphatase/phosphodiesterase 1
Synonyms 4833416E15RIK, ARHR2, CD203c, COLED, ectonucleotide pyrophosphatase/phosphodiesterase 1, Ly-41, M6S1, NPP1, NPPS, PC-1, Pca, PCA1, PDNP1, ttw, twy
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Enpp1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • phosphodiesterase I
  • Type I phosphodiesterase / nucleotide pyrophosphatase
  • alkaline phosphatases and sulfatases
  • insulin receptor binding
  • DNA/RNA non-specific endonuclease
  • phosphorous-containing acid anhydride hydrolase
  • nucleoside-triphosphate diphosphatase
  • ATP binding
  • calcium ion binding
  • enzyme
  • protein binding
  • Somatomedin B domain
  • identical protein binding
  • zinc ion binding
  • NUC
  • exonuclease
  • pyrophosphatase
  • nucleotide diphosphatase
  • phosphatase
  • protein homodimerization
  • phosphoric diester hydrolase

Pathways

Biological processes and signaling networks where the Enpp1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
regulates
regulated by
disease
  • neoplasia
  • epithelial cancer
  • metastasis
  • mammary neoplasm
  • obesity
  • generalized arterial calcification of infancy type 1
  • medial coronary sclerosis of infancy
  • autosomal recessive hypophosphatemic rickets type 2
  • osteoporosis
  • Cole disease
phenotypes
  • abnormal adipose tissue morphology
  • abnormal aorta morphology
  • abnormal auditory tube morphology
  • abnormal axial skeleton morphology
  • abnormal bone mineralization
  • abnormal calcium ion homeostasis
  • abnormal carotid artery morphology
  • abnormal cartilage development
  • abnormal chondrocyte morphology
  • abnormal chondrocyte proliferation
  • abnormal circulating calcium level
  • abnormal circulating mineral level
  • abnormal circulating phosphate level
  • abnormal coronary artery morphology
  • abnormal elbow joint morphology
  • abnormal enthesis morphology
  • abnormal forelimb joint morphology
  • abnormal gait
  • abnormal grip strength
  • abnormal hair follicle morphology
  • abnormal hand joint morphology
  • abnormal intervertebral disk morphology
  • abnormal joint morphology
  • abnormal kidney arcuate artery morphology
  • abnormal kidney morphology
  • abnormal knee joint morphology
  • abnormal ligament morphology
  • abnormal liver vasculature morphology
  • abnormal middle ear morphology
  • abnormal mineral level
  • abnormal motor capabilities/coordination/movement
  • abnormal nucleus pulposus morphology
  • abnormal osteoblast physiology
  • abnormal outer ear cartilage morphology
  • abnormal posterior longitudinal ligament morphology
  • abnormal posture
  • abnormal renal artery morphology
  • abnormal resting posture
  • abnormal retina morphology
  • abnormal round window morphology
  • abnormal skeleton physiology
  • abnormal skin adnexa morphology
  • abnormal snout skin morphology
  • abnormal spinal cord morphology
  • abnormal stapedial artery morphology
  • abnormal trabecular bone morphology
  • abnormal tympanic membrane morphology
  • abnormal vascular smooth muscle morphology
  • abnormal vertebrae morphology
  • abnormal vibrissa follicle morphology
  • abnormal vibrissa morphology
  • calcified aorta
  • calcified artery
  • calcified calcaneal tendon
  • calcified intervertebral disk
  • calcified joint
  • calcified retina
  • calcified skin
  • calcified tendon
  • calcinosis
  • conductive hearing loss
  • decreased abdominal adipose tissue amount
  • decreased body weight
  • decreased bone mass
  • decreased bone mineral content
  • decreased bone mineral density
  • decreased circulating phosphate level
  • decreased food intake
  • decreased joint mobility
  • decreased skin turgor
  • decreased white fat cell size
  • exostosis
  • fused carpal bones
  • fused joints
  • fusion of vertebral bodies
  • hunched posture
  • impaired hearing
  • increased alkaline phosphatase activity
  • increased bone ossification
  • increased middle ear goblet cell number
  • increased or absent threshold for auditory brainstem response
  • increased sensitivity to induced morbidity/mortality
  • increased susceptibility to otitis media
  • incudomalleolar fusion
  • joint inflammation
  • middle ear effusion
  • middle ear polyps
  • nephrocalcinosis
  • osteoarthritis
  • osteomyelitis
  • osteoporosis
  • postnatal growth retardation
  • premature death
  • scoliosis
  • tympanic membrane retraction
  • vertebral fusion
  • weight loss
role in cell
  • expression in
  • function
  • calcification
  • apoptosis
  • growth
  • proliferation
  • glycolysis in
  • differentiation
  • phosphorylation in
  • migration

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cell surface
  • Extracellular Space
  • cellular membrane
  • matrix vesicles
  • cellular protrusions
  • perikaryon
  • dendrites
  • plasma
  • apical processes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Enpp1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cellular response to insulin stimulus
  • negative regulation of bone mineralization
  • inorganic diphosphate transport
  • immune response
  • vesicle-mediated transport
  • negative regulation of cell growth
  • negative regulation of protein autophosphorylation
  • cellular phosphate ion homeostasis
  • regulation of bone mineralization
  • nucleic acid metabolic process
  • phosphate ion homeostasis
  • generation of precursor metabolites and energy
  • bone mineralization
  • response to ATP
  • nucleoside triphosphate catabolic process
  • negative regulation of glycogen biosynthetic process
  • negative regulation of glucose import
  • negative regulation of fat cell differentiation
  • negative regulation of insulin receptor signaling pathway
  • phosphate-containing compound metabolic process
  • melanocyte differentiation
  • ATP metabolic process
  • gene expression
  • 3'-phosphoadenosine 5'-phosphosulfate metabolic process
  • sequestering of triglyceride

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • membrane
  • basolateral plasma membrane
  • plasma membrane
  • lysosomal membrane
  • cell surface

Molecular Function

What the gene product does at the molecular level
  • UTP diphosphatase activity
  • zinc ion binding
  • protein homodimerization activity
  • scavenger receptor activity
  • nucleotide diphosphatase activity
  • insulin receptor binding
  • nucleoside-triphosphate diphosphatase activity
  • 3',5'-cyclic-AMP phosphodiesterase activity
  • nucleic acid binding
  • ATP diphosphatase activity
  • ATP binding
  • protein binding
  • phosphodiesterase I activity
  • exonuclease activity
  • calcium ion binding
  • phosphatase activity
  • GTP diphosphatase activity
  • 3'-phosphoadenosine 5'-phosphosulfate binding
  • polysaccharide binding

Gene-Specific Assays for Results You Can Trust

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