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Results for the Protein: P22413
23503088

ENPP1_HUMAN RecName: Full=Ectonucleotide pyrophosphatase/phosphodiesterase family member 1; Short=E-NPP 1; AltName: Full=Membrane component chromosome 6 surface marker 1; AltName: Full=Phosphodiesterase I/nucleotide pyrophosphatase 1; AltName: Full=Plasma-cell membrane glycoprotein PC-1; Includes: RecName: Full=Alkaline phosphodiesterase I; Includes: RecName: Full=Nucleotide pyrophosphatase; Short=NPPase

Known Diseases associated with this Protein:
  ARTERIAL CALCIFICATION OF INFANCY, GENERALIZED, 1 (GACI1)
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INCLUDED
  COLE DISEASE
  DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO, INCLUDED;;
  HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2
  HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (ARHR2)
  INSULIN RESISTANCE, SUSCEPTIBILITY TO
  OBESITY,
  OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF THE SPINE (OPLL)
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
25
9
15
4
15
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Default View:

SO - smart00201
Somatomedin_B - pfam01033
COG1524 - COG1524
Phosphodiest - pfam01663
NUC1 - COG1864
NUC - cd00091
NUC - smart00477


Swiss-Prot Protein: P22413
Identical to: NP_006199
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NUC1COG18640.0006611925
NUCcd000914.2e-77657917
Somatomedin_Bpfam010332.9e-13105145
Somatomedin_Bpfam010331.1e-13147189
Phosphodiestpfam016635e-135212538
SOsmart002011.8e-16104144
SOsmart002011.9e-19145188
NUCsmart004774e-115676907

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs28933977 Polymorphismp.ARG774CYSN/A
Swiss-ProtVAR_037435Polymorphismp.ARG886THRN/A
Swiss-ProtVAR_037432Polymorphismp.ASN179SERN/A
Swiss-ProtVAR_067913Diseasep.ASP538HISArterial calcification of infancy, generalized, 1 (GACI1)
dbSNPrs115371819 Polymorphismp.GLU668LYSN/A
Swiss-ProtVAR_067914Diseasep.GLY586ARGArterial calcification of infancy, generalized, 1 (GACI1)
Swiss-ProtVAR_063719Diseasep.GLY266VALHypophosphatemic rickets, autosomal recessive, 2 (ARHR2)
Swiss-ProtVAR_037433Diseasep.GLY342VALArterial calcification of infancy, generalized, 1 (GACI1)
Swiss-ProtVAR_018514Diseasep.LEU579PHEArterial calcification of infancy, generalized, 1 (GACI1)
Swiss-ProtVAR_014141Diseasep.LEU91PROOssification of the posterior longitudinal ligament of the spine (OPLL)
dbSNPrs79079368 Polymorphismp.LEU611VALN/A
dbSNPrs1044498 Polymorphismp.LYS173GLNN/A
Swiss-ProtVAR_067910Diseasep.PRO250LEUArterial calcification of infancy, generalized, 1 (GACI1)
Swiss-ProtVAR_067912Diseasep.PRO305THRArterial calcification of infancy, generalized, 1 (GACI1)
Swiss-ProtVAR_014143Diseasep.SER287PHEOssification of the posterior longitudinal ligament of the spine (OPLL)
Swiss-ProtVAR_014144Polymorphismp.THR779PRON/A
Swiss-ProtVAR_014142Polymorphismp.TYR268HISN/A
Swiss-ProtVAR_037434Polymorphismp.TYR371PHEN/A
Swiss-ProtVAR_063720Diseasep.TYR901SERHypophosphatemic rickets, autosomal recessive, 2 (ARHR2)
OMIM173335.0003 Diseasep.ARG774CYSRECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM173335.0017 Diseasep.ASP538HISARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
OMIM173335.0022 Diseasep.CYS149SERCOLE DISEASE
OMIM173335.0021 Diseasep.CYS164SERCOLE DISEASE
OMIM173335.0020 Diseasep.CYS177TYRCOLE DISEASE
OMIM173335.0002 Diseasep.GLU893TERARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
OMIM173335.0019 Diseasep.GLY586ARGARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
OMIM173335.0011 Diseasep.GLY266VALHYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2||ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INCLUDED
OMIM173335.0008 Diseasep.GLY342VALARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
OMIM173335.0005 Diseasep.LEU579PHEARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
OMIM173335.0006 Diseasep.LYS121GLNINSULIN RESISTANCE, SUSCEPTIBILITY TO||DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO, INCLUDED;;||OBESITY,
OMIM173335.0016 Diseasep.PRO305THRARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
OMIM173335.0009 Diseasep.TYR371PHEARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
OMIM173335.0013 Diseasep.TYR901SERHYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2
OMIM173335.0014 Diseasep.TYR261TERARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1



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