ectonucleotide pyrophosphatase/phosphodiesterase 1

Summary
Gene Symbol
  • ENPP1
Aliases
  • PC-1
  • PCA1
Organism
Homo sapiens (human)
External Links
NCBI Gene
5167
HGNC
3356
KEGG Gene ID
hsa:5167
PubChem
5167
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Biomineralization
  • Calcium
  • Cell membrane
  • Diabetes mellitus
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Hydrolase
  • Metal-binding
  • Obesity
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • Secreted
  • Signal-anchor
  • Transmembrane helix
  • Zinc
Proteins
Displaying 1 entry
UniProt Protein Name
P22413
  • Alkaline phosphodiesterase I
  • Membrane component chromosome 6 surface marker 1
  • Nucleotide diphosphatase
  • Nucleotide pyrophosphatase
  • Phosphodiesterase I/nucleotide pyrophosphatase 1
  • Plasma-cell membrane glycoprotein PC-1
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000197594

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01513
Name
ectonucleotide pyrophosphatase/phosphodiesterase family member 1/3 [EC:3.1.4.1 3.6.1.9]
References
Disease
Disease Ontology
Displaying entries 71 - 80 of 216 in total
DO ID Disease Name Source
DOID:1214 tympanosclerosis
DOID:1222 cartilage disease
DOID:12347 osteogenesis imperfecta
DOID:12678 hypercalcemia
DOID:12679 nephrocalcinosis
DOID:12721 multiple epiphyseal dysplasia
DOID:12733 hypercementosis
DOID:12804 mucopolysaccharidosis IV
DOID:1287 cardiovascular system disease
DOID:13072 acquired hyperkeratosis
The Human Phenotype Ontology
Displaying entries 81 - 90 of 159 in total
HPO ID HPO Term
HP:0002643 Neonatal respiratory distress
HP:0002647 Aortic dissection
HP:0002650 Scoliosis
HP:0002652 Skeletal dysplasia
HP:0002653 Bone pain
HP:0002673 Coxa valga
HP:0002749 Osteomalacia
HP:0002750 Delayed skeletal maturation
HP:0002812 Coxa vara
HP:0002814 Abnormality of the lower limb
Displaying all 8 entries
Disease ID Disease Name
ORPHA:758
  • autosomal recessive inherited pseudoxanthoma elasticum
ORPHA:289176
  • autosomal recessive hypophosphatemic rickets
OMIM:601665
  • inherited obesity
OMIM:615522
  • hypopigmentation-punctate palmoplantar keratoderma syndrome
ORPHA:51608
  • arterial calcification of infancy
OMIM:613312
  • hypophosphatemic rickets, autosomal recessive, 2
OMIM:208000
  • arterial calcification, generalized, of infancy, 1
OMIM:125853
  • type 2 diabetes mellitus

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Last updated: August 19, 2024