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Aliases for ENPP1 Gene

Aliases for ENPP1 Gene

  • Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 2 3 5
  • Phosphodiesterase I/Nucleotide Pyrophosphatase 1 3 4
  • Plasma-Cell Membrane Glycoprotein PC-1 3 4
  • E-NPP 1 3 4
  • PDNP1 3 4
  • M6S1 3 4
  • NPPS 3 4
  • Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1 3
  • Membrane Component, Chromosome 6, Surface Marker 1 3
  • Membrane Component Chromosome 6 Surface Marker 1 4
  • Plasma-Cell Membrane Glycoprotein 1 3
  • Alkaline Phosphodiesterase 1 3
  • Ly-41 Antigen 3
  • ARHR2 3
  • COLED 3
  • PCA1 3
  • NPP1 3
  • PC-1 3
  • PC1 4

External Ids for ENPP1 Gene

Previous HGNC Symbols for ENPP1 Gene

  • NPPS
  • M6S1
  • PDNP1

Previous GeneCards Identifiers for ENPP1 Gene

  • GC06P131752
  • GC06P131976
  • GC06P132109
  • GC06P132170
  • GC06P129704
  • GC06P132129

Summaries for ENPP1 Gene

Entrez Gene Summary for ENPP1 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 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]

GeneCards Summary for ENPP1 Gene

ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1) is a Protein Coding gene. Diseases associated with ENPP1 include Arterial Calcification, Generalized, Of Infancy, 1 and Cole Disease. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include nucleic acid binding and protein homodimerization activity. An important paralog of this gene is ENPP3.

UniProtKB/Swiss-Prot for ENPP1 Gene

  • By generating PPi, plays a role in regulating pyrophosphate levels, and functions in bone mineralization and soft tissue calcification. PPi inhibits mineralization by binding to nascent hydroxyapatite (HA) crystals, thereby preventing further growth of these crystals. Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5 triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate and diadenosine polyphosphates, and also 3,5-cAMP to AMP. May also be involved in the regulation of the availability of nucleotide sugars in the endoplasmic reticulum and Golgi, and the regulation of purinergic signaling. Appears to modulate insulin sensitivity and function.

Gene Wiki entry for ENPP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENPP1 Gene

Genomics for ENPP1 Gene

Regulatory Elements for ENPP1 Gene

Enhancers for ENPP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F131627 0.6 ENCODE 15.1 -179.9 -179900 2.0 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 ARG1 LOC100421775 CTGF ENPP1 CTAGE9 MED23
GH06F131772 0.7 ENCODE 8.7 -34.5 -34475 1.1 ENPP1 LOC100421775 GC06M131781 CTAGE9
GH06F131892 0.5 ENCODE 8.5 +86.3 86300 3.7 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF143 FOS PAF1 ENPP1 ENSG00000236673 LOC100421775
GH06F131753 0.4 ENCODE 5.4 -52.7 -52732 2.9 ATF1 MLX ARID4B ZNF48 SLC30A9 FOS SP5 NFYC MXD4 MIER2 ENPP1 GC06M131781 CTAGE9
GH06F131901 0.2 ENCODE 4.8 +93.6 93620 0.2 ENPP1 ENSG00000236673 LOC100421775
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ENPP1 on UCSC Golden Path with GeneCards custom track

Promoters for ENPP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001227187 85 2199 ZFP64 ARID4B GLI4 DMAP1 ZNF2 SLC30A9 GLIS2 KLF7 ZNF263 SP3

Genomic Location for ENPP1 Gene

Chromosome:
6
Start:
131,808,016 bp from pter
End:
131,895,155 bp from pter
Size:
87,140 bases
Orientation:
Plus strand

Genomic View for ENPP1 Gene

Genes around ENPP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENPP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENPP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENPP1 Gene

Proteins for ENPP1 Gene

  • Protein details for ENPP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22413-ENPP1_HUMAN
    Recommended name:
    Ectonucleotide pyrophosphatase/phosphodiesterase family member 1
    Protein Accession:
    P22413
    Secondary Accessions:
    • Q5T9R6
    • Q9NPZ3
    • Q9P1P6
    • Q9UP61
    • Q9Y6K3

    Protein attributes for ENPP1 Gene

    Size:
    925 amino acids
    Molecular mass:
    104924 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • The secreted form is monomeric (By similarity). Homodimer. Interacts with INSR.
    SequenceCaution:
    • Sequence=AAA63237.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH59375.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA02054.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ENPP1 Gene

neXtProt entry for ENPP1 Gene

Post-translational modifications for ENPP1 Gene

  • A secreted form is produced through cleavage at Lys-103 by intracellular processing.
  • Autophosphorylated as part of the catalytic cycle of phosphodiesterase/pyrophosphatase activity.
  • N-glycosylated.
  • Glycosylation at Asn 179, Asn 285, Asn 341, Asn 477, Asn 585, Asn 643, Asn 700, Asn 731, and Asn 748
  • Modification sites at PhosphoSitePlus

Other Protein References for ENPP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ENPP1 (ENPP1)
  • Abcam antibodies for ENPP1

No data available for DME Specific Peptides for ENPP1 Gene

Domains & Families for ENPP1 Gene

Suggested Antigen Peptide Sequences for ENPP1 Gene

Graphical View of Domain Structure for InterPro Entry

P22413

UniProtKB/Swiss-Prot:

ENPP1_HUMAN :
  • The di-leucine motif is required for basolateral targeting in epithelial cells, and for targeting to matrix vesicles derived from mineralizing cells.
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
Domain:
  • The di-leucine motif is required for basolateral targeting in epithelial cells, and for targeting to matrix vesicles derived from mineralizing cells.
  • Contains 2 SMB (somatomedin-B) domains.
Family:
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
genes like me logo Genes that share domains with ENPP1: view

No data available for Gene Families for ENPP1 Gene

Function for ENPP1 Gene

Molecular function for ENPP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolytically removes 5-nucleotides successively from the 3-hydroxy termini of 3-hydroxy-terminated oligonucleotides.
UniProtKB/Swiss-Prot CatalyticActivity:
A nucleoside triphosphate + H(2)O = a nucleotide + diphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
At low concentrations of ATP, a phosphorylated intermediate is formed which inhibits further hydrolysis.
UniProtKB/Swiss-Prot Function:
By generating PPi, plays a role in regulating pyrophosphate levels, and functions in bone mineralization and soft tissue calcification. PPi inhibits mineralization by binding to nascent hydroxyapatite (HA) crystals, thereby preventing further growth of these crystals. Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5 triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate and diadenosine polyphosphates, and also 3,5-cAMP to AMP. May also be involved in the regulation of the availability of nucleotide sugars in the endoplasmic reticulum and Golgi, and the regulation of purinergic signaling. Appears to modulate insulin sensitivity and function.

Gene Ontology (GO) - Molecular Function for ENPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004528 phosphodiesterase I activity IEA,ISS --
GO:0004551 nucleotide diphosphatase activity IEA,TAS --
GO:0005044 scavenger receptor activity IEA --
genes like me logo Genes that share ontologies with ENPP1: view
genes like me logo Genes that share phenotypes with ENPP1: view

Human Phenotype Ontology for ENPP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ENPP1 Gene

MGI Knock Outs for ENPP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ENPP1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ENPP1 Gene

Localization for ENPP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENPP1 Gene

Cell membrane; Single-pass type II membrane protein. Basolateral cell membrane; Single-pass type II membrane protein. Secreted. Note=The proteolytically processed form is secreted (By similarity). Targeted to the basolateral membrane in polarized epithelial cells and in hepatocytes, and to matrix vesicles in osteoblasts. In bile duct cells and cancer cells, located to the apical cytoplasmic side. {ECO:0000250, ECO:0000269 PubMed:11598187, ECO:0000269 PubMed:15072822, ECO:0000269 PubMed:8001561}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ENPP1 Gene COMPARTMENTS Subcellular localization image for ENPP1 gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 2
endoplasmic reticulum 2
mitochondrion 2
nucleus 2
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ENPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 11159191
GO:0005765 lysosomal membrane IDA 17897319
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane ISS --
genes like me logo Genes that share ontologies with ENPP1: view

Pathways & Interactions for ENPP1 Gene

genes like me logo Genes that share pathways with ENPP1: view

Pathways by source for ENPP1 Gene

Gene Ontology (GO) - Biological Process for ENPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy IDA 12746903
GO:0006771 riboflavin metabolic process TAS --
GO:0006796 phosphate-containing compound metabolic process IDA 10513816
GO:0006898 receptor-mediated endocytosis IEA --
GO:0006955 immune response IEA --
genes like me logo Genes that share ontologies with ENPP1: view

No data available for SIGNOR curated interactions for ENPP1 Gene

Drugs & Compounds for ENPP1 Gene

(25) Drugs for ENPP1 Gene - From: DrugBank, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amifostine Approved, Investigational Pharma Target, inducer 81
Ribavirin Approved Pharma Target, inhibitor 984
Ethyol Approved December 8, 1995 Pharma 0
FAD Approved Pharma 0
Water Approved Pharma 0

(21) Additional Compounds for ENPP1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
  • 3,5-ADP
  • 3,5-Diphosphoadenosine
  • 3-Phosphoadenosine 5-phosphate
  • 5-(Dihydrogen phosphate) 3-Adenylate
1053-73-2
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
beta-nicotinamide D-ribonucleotide
Dephospho-CoA
  • 3'-Dephospho-CoA
  • 3'-Dephospho-Coenzyme A
  • 3'-O-Dephosphono-CoA
  • 3'-O-Dephosphono-Coenzyme A
  • Dephospho-CoA
3633-59-8
Nicotinamide ribotide
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium hydroxide inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-delta-ribofuranosyl)-Pyridinium hydroxide inner salt
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-delta-ribofuranosyl)-Pyridinium inner salt
  • 3-Carbamoyl-1-b-D-ribofuranosylpyridinium hydroxide 5'-phosphate inner salt
1094-61-7
genes like me logo Genes that share compounds with ENPP1: view

Transcripts for ENPP1 Gene

Unigene Clusters for ENPP1 Gene

Ectonucleotide pyrophosphatase/phosphodiesterase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENPP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: -
SP2: -

ExUns: 24 ^ 25
SP1:
SP2:

Relevant External Links for ENPP1 Gene

GeneLoc Exon Structure for
ENPP1
ECgene alternative splicing isoforms for
ENPP1

Expression for ENPP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ENPP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENPP1 Gene

This gene is overexpressed in Liver (x6.3) and Uterus (x5.2).

Protein differential expression in normal tissues from HIPED for ENPP1 Gene

This gene is overexpressed in Placenta (25.4), Breast (6.3), and Uterus (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ENPP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ENPP1 Gene:

ENPP1

SOURCE GeneReport for Unigene cluster for ENPP1 Gene:

Hs.527295

mRNA Expression by UniProt/SwissProt for ENPP1 Gene:

P22413-ENPP1_HUMAN
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.
genes like me logo Genes that share expression patterns with ENPP1: view

Primer Products

No data available for Protein tissue co-expression partners for ENPP1 Gene

Orthologs for ENPP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENPP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENPP1 34 35
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia ENPP1 34 35
  • 88.73 (n)
cow
(Bos Taurus)
Mammalia ENPP1 34 35
  • 88.49 (n)
mouse
(Mus musculus)
Mammalia Enpp1 34 16 35
  • 81.15 (n)
rat
(Rattus norvegicus)
Mammalia Enpp1 34
  • 80.43 (n)
oppossum
(Monodelphis domestica)
Mammalia ENPP1 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENPP1 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENPP1 34 35
  • 70.9 (n)
lizard
(Anolis carolinensis)
Reptilia ENPP1 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enpp1 34
  • 64.53 (n)
zebrafish
(Danio rerio)
Actinopterygii enpp1 34 35
  • 59.85 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C27A7.1 34
  • 46.27 (n)
C27A7.1 36
  • 28 (a)
C27A7.3 36 35
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPP2 35
  • 23 (a)
ManyToMany
NPP1 35
  • 21 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G29680 34
  • 50.54 (n)
rice
(Oryza sativa)
Liliopsida Os01g0196600 34
  • 50.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
ManyToMany
Species where no ortholog for ENPP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ENPP1 Gene

ENSEMBL:
Gene Tree for ENPP1 (if available)
TreeFam:
Gene Tree for ENPP1 (if available)

Paralogs for ENPP1 Gene

Paralogs for ENPP1 Gene

(8) SIMAP similar genes for ENPP1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ENPP1: view

Variants for ENPP1 Gene

Sequence variations from dbSNP and Humsavar for ENPP1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs121908248 Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312], Pathogenic 131,860,388(+) TTAGG(G/T)ATTGT reference, missense
rs121908249 Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312], Pathogenic 131,890,435(+) CTTCT(A/C/G)TCAAC reference, missense
rs121918025 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000], Pathogenic 131,861,704(+) TAATG(G/T)GTATG reference, missense
rs190947144 Ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475] 131,860,451(+) TGCTT(C/T)CTTTT reference, missense
rs374270497 Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000], Pathogenic 131,860,504(+) GAGAA(A/C)CAGTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ENPP1 Gene

Variant ID Type Subtype PubMed ID
dgv88n68 CNV loss 17160897
esv3610819 CNV gain 21293372
nsv1117667 CNV deletion 24896259
nsv475881 CNV novel sequence insertion 20440878
nsv475954 CNV novel sequence insertion 20440878
nsv5479 CNV deletion 18451855
nsv7968 CNV loss 18304495

Variation tolerance for ENPP1 Gene

Residual Variation Intolerance Score: 21.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.57; 86.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENPP1 Gene

Human Gene Mutation Database (HGMD)
ENPP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENPP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENPP1 Gene

Disorders for ENPP1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for ENPP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
arterial calcification, generalized, of infancy, 1
  • arterial calcification of infancy
cole disease
  • guttate hypopigmentation
hypophosphatemic rickets, autosomal recessive, 2
  • hypophosphatemic rickets, autosomal recessive 2
autosomal recessive hypophosphatemic rickets
  • arhr
ossification of the posterior longitudinal ligament of the spine
  • opll
- elite association - COSMIC cancer census association via MalaCards
Search ENPP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ENPP1_HUMAN
  • Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000]: A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. {ECO:0000269 PubMed:12881724, ECO:0000269 PubMed:15605415, ECO:0000269 PubMed:15940697, ECO:0000269 PubMed:22209248}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cole disease (COLED) [MIM:615522]: A rare autosomal dominant genodermatosis characterized by punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer. Some patients also exhibit calcinosis cutis or calcific tendinopathy. {ECO:0000269 PubMed:24075184}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:16186408}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312]: A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities. {ECO:0000269 PubMed:20137772, ECO:0000269 PubMed:20137773}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]: A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis. {ECO:0000269 PubMed:10453738}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ENPP1

Genetic Association Database (GAD)
ENPP1
Human Genome Epidemiology (HuGE) Navigator
ENPP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENPP1
genes like me logo Genes that share disorders with ENPP1: view

No data available for Genatlas for ENPP1 Gene

Publications for ENPP1 Gene

  1. Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). (PMID: 10453738) Nakamura I. … Nakamura Y. (Hum. Genet. 1999) 3 4 22 46 64
  2. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. (PMID: 20137772) Levy-Litan V. … Parvari R. (Am. J. Hum. Genet. 2010) 3 4 22 64
  3. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. (PMID: 20137773) Lorenz-Depiereux B. … Strom T.M. (Am. J. Hum. Genet. 2010) 3 4 22 64
  4. The Q121 variant of ENPP1 may protect from childhood overweight/obesity in the Italian population. (PMID: 18948963) Morandi A. … Meyre D. (Obesity (Silver Spring) 2009) 3 22 46 64
  5. Association of the ENPP1 K121Q polymorphism with type 2 diabetes and obesity in the Moroccan population. (PMID: 19046915) El Achhab Y. … Chikri M. (Diabetes Metab. 2009) 3 22 46 64

Products for ENPP1 Gene

Sources for ENPP1 Gene

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