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)
Displaying entries 26 - 27 of 27 in total
GO Term Evidence Code PMID
3'-phosphoadenosine 5'-phosphosulfate metabolic process
nucleic acid metabolic process
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 1 - 10 of 216 in total
DO ID Disease Name Source
DOID:0050328 congenital hypothyroidism
DOID:0050336 hypophosphatemia
DOID:0050428 nonepidermolytic palmoplantar keratoderma
DOID:0050445 X-linked dominant hypophosphatemic rickets
DOID:0050486 exanthem
DOID:0050644 arterial calcification of infancy
DOID:0050782 Zollinger-Ellison syndrome
DOID:0050830 peripheral artery disease
DOID:0050948 autosomal dominant hypophosphatemic rickets
DOID:0050949 autosomal recessive hypophosphatemic rickets
The Human Phenotype Ontology
Displaying entries 31 - 40 of 159 in total
HPO ID HPO Term
HP:0000974 Hyperextensible skin
HP:0000978 Bruising susceptibility
HP:0000982 Palmoplantar keratoderma
HP:0000988 Skin rash
HP:0000989 Pruritus
HP:0001012 Multiple lipomas
HP:0001061 Acne
HP:0001065 Striae distensae
HP:0001102 Angioid streaks of the fundus
HP:0001250 Seizure
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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Acknowledgements

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Last updated: August 19, 2024