Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5167
Gene name Gene Name - the full gene name approved by the HGNC.
Ectonucleotide pyrophosphatase/phosphodiesterase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ENPP1
Synonyms (NCBI Gene) Gene synonyms aliases
ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ARHR2, COLED
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1044498 A>C,G Risk-factor, benign Coding sequence variant, missense variant
rs7754561 A>G Benign, risk-factor 3 prime UTR variant
rs73541508 A>G,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs121908248 G>C,T Pathogenic Missense variant, coding sequence variant
rs121908249 A>C,G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT688380 hsa-miR-3974 HITS-CLIP 23313552
MIRT688379 hsa-miR-433-5p HITS-CLIP 23313552
MIRT688378 hsa-miR-6502-3p HITS-CLIP 23313552
MIRT688377 hsa-miR-6888-5p HITS-CLIP 23313552
MIRT688376 hsa-miR-4768-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0004527 Function Exonuclease activity IDA 22285541
GO:0004528 Function Phosphodiesterase I activity IBA 21873635
GO:0004528 Function Phosphodiesterase I activity IDA 27467858
GO:0004528 Function Phosphodiesterase I activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
173335 3356 ENSG00000197594
Protein
UniProt ID P22413
Protein name Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (E-NPP 1) (Alkaline phosphodiesterase I) (EC 3.1.4.1) (Membrane component chromosome 6 surface marker 1) (Nucleotide diphosphatase) (Nucleotide pyrophosphatase) (NPPase) (EC 3.6.1.9) (Phosph
Protein function Nucleotide pyrophosphatase that generates diphosphate (PPi) and functions in bone mineralization and soft tissue calcification by regulating pyrophosphate levels (By similarity). PPi inhibits bone mineralization and soft tissue calcification by
PDB 2YS0 , 6WET , 6WEU , 6WEV , 6WEW , 6WFJ , 8GHR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01033 Somatomedin_B 106 143 Somatomedin B domain Family
PF01033 Somatomedin_B 147 187 Somatomedin B domain Family
PF01663 Phosphodiest 212 538 Type I phosphodiesterase / nucleotide pyrophosphatase Family
PF01223 Endonuclease_NS 663 905 DNA/RNA non-specific endonuclease Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in plasma cells and also in a number of non-lymphoid tissues, including the distal convoluted tubule of the kidney, chondrocytes and epididymis (PubMed:9344668). Expressed in melanocytes but not in keratinocytes (PubMed:28964
Sequence
MERDGCAGGGSRGGEGGRAPREGPAGNGRDRGRSHAAEAPGDPQAAASLLAPMDVGEEPL
EKAARARTAKDPNTYKVLSLVLSVCVLTTILGCIFGLKPSCAKEVKSCKGRCFERTFGNC
RCDAACVELGNCCLDYQETCIEP
EHIWTCNKFRCGEKRLTRSLCACSDDCKDKGDCCINY
SSVCQGE
KSWVEEPCESINEPQCPAGFETPPTLLFSLDGFRAEYLHTWGGLLPVISKLKK
CGTYTKNMRPVYPTKTFPNHYSIVTGLYPESHGIIDNKMYDPKMNASFSLKSKEKFNPEW
YKGEPIWVTAKYQGLKSGTFFWPGSDVEINGIFPDIYKMYNGSVPFEERILAVLQWLQLP
KDERPHFYTLYLEEPDSSGHSYGPVSSEVIKALQRVDGMVGMLMDGLKELNLHRCLNLIL
ISDHGMEQGSCKKYIYLNKYLGDVKNIKVIYGPAARLRPSDVPDKYYSFNYEGIARNLSC
REPNQHFKPYLKHFLPKRLHFAKSDRIEPLTFYLDPQWQLALNPSERKYCGSGFHGSD
NV
FSNMQALFVGYGPGFKHGIEADTFENIEVYNLMCDLLNLTPAPNNGTHGSLNHLLKNPVY
TPKHPKEVHPLVQCPFTRNPRDNLGCSCNPSILPIEDFQTQFNLTVAEEKIIKHETLPYG
RPRVLQKENTICLLSQHQFMSGYSQDILMPLWTSYTVDRNDSFSTEDFSNCLYQDFRIPL
SPVHKCSFYKNNTKVSYGFLSPPQLNKNSSGIYSEALLTTNIVPMYQSFQVIWRYFHDTL
LRKYAEERNGVNVVSGPVFDFDYDGRCDSLENLRQKRRVIRNQEILIPTHFFIVLTSCKD
TSQTPLHCENLDTLAFILPHRTDNSESCVHGKHDSSWVEELLMLHRARITDVEHITGLSF
YQQRK
EPVSDILKLKTHLPTFSQED
Sequence length 925
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Purine metabolism
Pyrimidine metabolism
Starch and sucrose metabolism
Riboflavin metabolism
Nicotinate and nicotinamide metabolism
Pantothenate and CoA biosynthesis
Metabolic pathways
Nucleotide metabolism
  Vitamin B2 (riboflavin) metabolism
Vitamin B5 (pantothenate) metabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arterial calcification Arterial calcification of infancy, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, Generalized arterial calcification of infancy rs72653706, rs72664209, rs63750759, rs63750273, rs121918023, rs1554203715, rs121918024, rs121918025, rs121918026, rs121908248, rs267606784, rs1401810953, rs374270497, rs387906673, rs753851892
View all (8 more)
20016754, 15605415, 16315058, 27467858, 15940697, 12881724, 22209248, 23430823
Coronary sclerosis Coronary Sclerosis, Medial, of Infancy rs121918025, rs756541266
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Unknown
Disease term Disease name Evidence References Source
Atherosclerosis Atherosclerosis ClinVar
Congestive heart failure Congestive heart failure ClinVar
Endometriosis Endometriosis 20864642 ClinVar
Myocardial infarction Myocardial Infarction ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Acrophobia Associate 28381371
Anemia Sickle Cell Associate 23422753
Angioid Streaks Associate 22209248
Arterial calcification of infancy Associate 11159191, 20137773, 22209248, 23746223, 29976176, 31444901, 31826312, 34355424, 35340077, 35482848
Arthralgia Associate 29103441
Arthritis Rheumatoid Inhibit 11168012
Auriculo condylar syndrome Associate 28381371
Bone Diseases Associate 21738662
Breast Neoplasms Associate 25201346, 26065921, 33838601, 35191482, 38117852
Breast Neoplasms Stimulate 36761762