ENPP1 - ectonucleotide pyrophosphatase/phosphodiesterase 1 Gene
Also Known as M6S1; NPP1; NPPS; PC-1; PCA1; ARHR2; COLED; PDNP1
Species: Homo sapiens
About ENPP1
This gene has 12 transcripts (splice variants), 225 orthologues, 6 paralogues and is associated with 10 phenotypes. Biased expression in placenta (RPKM 22.6), thyroid (RPKM 14.0) and 13 other tissues.
Summary
This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II Transmembrane Glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and Insulin resistance. [provided by RefSeq, Jul 2008]
ENPP1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_006208.3 | NP_006199.2 | ectonucleotide pyrophosphatase/phosphodiesterase family member 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ATP binding |
IDA
IDA: Inferred from direct assay
|
7830796 | GOA |
| enables cyclic-GMP-AMP hydrolase activity |
IDA
IDA: Inferred from direct assay
|
25344812 | GOA |
| enables dinucleotide phosphatase activity |
IDA
IDA: Inferred from direct assay
|
12746903 | GOA |
| enables exonuclease activity |
IDA
IDA: Inferred from direct assay
|
22285541 | GOA |
| enables insulin receptor binding |
IDA
IDA: Inferred from direct assay
|
7830796 | GOA |
| enables nucleoside triphosphate diphosphatase activity |
IDA
IDA: Inferred from direct assay
|
7830796 | GOA |
| enables phosphatase activity |
IDA
IDA: Inferred from direct assay
|
28592560 | GOA |
| enables phosphodiesterase I activity |
IDA
IDA: Inferred from direct assay
|
27467858 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11289049 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
7830796 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
10513816 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
11159191 | GOA |
| is active in plasma membrane |
IDA
IDA: Inferred from direct assay
|
25644539 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
10513816 | GOA |
ENPP1 Protein Structure
Somatomedin_B: Somatomedin B domain (106 - 142)
Somatomedin_B: Somatomedin B domain (147 - 188)
Phosphodiest: Type I phosphodiesterase / nucleotide pyrophosphatase (212 - 538)
Endonuclease_NS: DNA/RNA non-specific endonuclease (677 - 902)
- 0
- 200
- 400
- 600
- 800
- 925 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ectonucleotide pyrophosphatase/phosphodiesterase family member 1 |
|
ENPP1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ENPP1 | P22413 | ABCG2 | Homo sapiens | Q9UNQ0 | 26065921 |
Recombinant ENPP1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P77923 | ENPP-1 Protein, Human (HEK293, His) | P22413 (K98-D925) | ≥ 95%, as determined by Bis-Tris PAGE. |
| HY-P700956 | ENPP-1 Protein, Human (Biotinylated, HEK293, His-Avi) | P22413 (K98-D925) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cole Disease |
|
|
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
|
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
|
| Arterial Calcification Of Infancy |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Autosomal Recessive Hypophosphatemic Rickets |
|
|
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
|
| Pseudoxanthoma Elasticum |
|
|
| Hypercementosis |
|
|
| Chondrocalcinosis |
|
|
| Hypophosphatemic Rickets, X-Linked Recessive |
|
|
| Rickets |
|
|
| Hypophosphatasia |
|
|
| Hypophosphatemia |
|
|
| Calcinosis |
|
|
| Diabetes Mellitus |
|
|
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
|
| Calcification Of Joints And Arteries |
|
|
| Glucose Intolerance |
|
|
| Osseous Heteroplasia, Progressive |
|
|
| Hypophosphatasia, Adult |
|
|
| Osteomalacia |
|
|
| Uremia |
|
|
| Enthesopathy |
|
|
| Gestational Diabetes |
|
|
| Angioid Streaks |
|
|
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
|
| Polycystic Kidney Disease |
|
|
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
|
| Hypophosphatemic Rickets, Autosomal Dominant |
|
|
| Osteoglophonic Dysplasia |
|
|
| Kidney Disease |
|
|
| Craniosynostosis |
|
|
| Hypophosphatemic Rickets, X-Linked Dominant |
|
|
| Hypophosphatasia, Childhood |
|
|
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
|
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
|
| Dental Abscess |
|
|
| Ankylosis |
|
|
| Tooth Ankylosis |
|
|
| Phosphorus Metabolism Disease |
|
|
| Diffuse Idiopathic Skeletal Hyperostosis |
|
|
| Vitamin D-Dependent Rickets |
|
|
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
|
| Metaphyseal Chondrodysplasia, Jansen Type |
|
|
| Hypophosphatemic Nephrolithiasis/Osteoporosis |
|
|
| Tumoral Calcinosis, Normophosphatemic, Familial |
|
|
| Vitamin D Hydroxylation-Deficient Rickets, Type 1b |
|
|
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
|
| Vitamin D-Dependent Rickets, Type 2a |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Cystic Kidney Disease |
|
|
| Mineral Metabolism Disease |
|
|
| Myocardial Infarction |
|
|
| Nevus, Epidermal |
|
|
| Osteoporosis |
|
|
| Chronic Kidney Disease |
|
|
| Fanconi Syndrome |
|
|
| Osteochondrodysplasia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | ENPP1 | VGNC | VGNC:28504 |
| Rattus norvegicus | ENPP1 | RGD | RGD:628825 |
| Macaca mulatta | ENPP1 | VGNC | VGNC:72222 |
| Canis familiaris | ENPP1 | VGNC | VGNC:40374 |
| Mus musculus | ENPP1 | MGD | MGI:97370 |
| Felis catus | ENPP1 | VGNC | VGNC:61872 |
| Others | ENPP1 | NCBI |