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Aliases for ENPP6 Gene

Aliases for ENPP6 Gene

  • Ectonucleotide Pyrophosphatase/Phosphodiesterase 6 2 3 5
  • Choline-Specific Glycerophosphodiester Phosphodiesterase 3 4
  • Glycerophosphocholine Cholinephosphodiesterase 3 4
  • GPC-Cpde 3 4
  • E-NPP 6 3 4
  • NPP-6 3 4
  • B830047L21Rik 3
  • EC 3.1.4.38 4
  • EC 3.1.4.- 4
  • NPP6 3

External Ids for ENPP6 Gene

Previous GeneCards Identifiers for ENPP6 Gene

  • GC04M185705
  • GC04M185385
  • GC04M185246
  • GC04M185009
  • GC04M180764

Summaries for ENPP6 Gene

GeneCards Summary for ENPP6 Gene

ENPP6 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 6) is a Protein Coding gene. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include phosphoric diester hydrolase activity and glycerophosphocholine cholinephosphodiesterase activity. An important paralog of this gene is ENPP3.

UniProtKB/Swiss-Prot for ENPP6 Gene

  • Choline-specific glycerophosphodiester phosphodiesterase. The preferred substrate may be lysosphingomyelin (By similarity). Hydrolyzes lysophosphatidylcholine (LPC) to form monoacylglycerol and phosphorylcholine but not lysophosphatidic acid, showing it has a lysophospholipase C activity. Has a preference for LPC with short (12:0 and 14:0) or polyunsaturated (18:2 and 20:4) fatty acids. Also hydrolyzes glycerophosphorylcholine and sphingosylphosphorylcholine efficiently. Hydrolyzes the classical substrate for phospholipase C, p-nitrophenyl phosphorylcholine in vitro, while it does not hydrolyze the classical nucleotide phosphodiesterase substrate, p-nitrophenyl thymidine 5-monophosphate. Does not hydrolyze diacyl phospholipids such as phosphatidylethanolamine, phosphatidylinositol, phosphatidylserine, phosphatidylglycerol and phosphatidic acid.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENPP6 Gene

Genomics for ENPP6 Gene

Regulatory Elements for ENPP6 Gene

Genomic Location for ENPP6 Gene

Chromosome:
4
Start:
184,088,706 bp from pter
End:
184,221,230 bp from pter
Size:
132,525 bases
Orientation:
Minus strand

Genomic View for ENPP6 Gene

Genes around ENPP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENPP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENPP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENPP6 Gene

Proteins for ENPP6 Gene

  • Protein details for ENPP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWR7-ENPP6_HUMAN
    Recommended name:
    Ectonucleotide pyrophosphatase/phosphodiesterase family member 6
    Protein Accession:
    Q6UWR7
    Secondary Accessions:
    • Q4W5Q1
    • Q96M57

    Protein attributes for ENPP6 Gene

    Size:
    440 amino acids
    Molecular mass:
    50241 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • Homodimer; disulfide-linked.

neXtProt entry for ENPP6 Gene

Proteomics data for ENPP6 Gene at MOPED

Post-translational modifications for ENPP6 Gene

  • Glycosylation at Asn 100, Asn 118, Asn 341, and Asn 404
  • Modification sites at PhosphoSitePlus

Other Protein References for ENPP6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ENPP6 Gene

Domains & Families for ENPP6 Gene

Protein Domains for ENPP6 Gene

Suggested Antigen Peptide Sequences for ENPP6 Gene

Graphical View of Domain Structure for InterPro Entry

Q6UWR7

UniProtKB/Swiss-Prot:

ENPP6_HUMAN :
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
Family:
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
genes like me logo Genes that share domains with ENPP6: view

No data available for Gene Families for ENPP6 Gene

Function for ENPP6 Gene

Molecular function for ENPP6 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=344 uM for GPC {ECO:0000269 PubMed:15788404}; KM=296 uM for 12:0-LPC {ECO:0000269 PubMed:15788404}; KM=440 uM for 14:0-LPC {ECO:0000269 PubMed:15788404}; KM=165 uM for 16:0-LPC {ECO:0000269 PubMed:15788404}; KM=434 uM for 18:2-LPC {ECO:0000269 PubMed:15788404}; KM=563 uM for 20:4-LPC {ECO:0000269 PubMed:15788404}; Vmax=484 nmol/min/mg enzyme with GPC as substrate {ECO:0000269 PubMed:15788404}; Vmax=463 nmol/min/mg enzyme with 12:0-LPC as substrate {ECO:0000269 PubMed:15788404}; Vmax=367 nmol/min/mg enzyme with 14:0-LPC as substrate {ECO:0000269 PubMed:15788404}; Vmax=89 nmol/min/mg enzyme with 16:0-LPC as substrate {ECO:0000269 PubMed:15788404}; Vmax=285 nmol/min/mg enzyme with 18:2-LPC as substrate {ECO:0000269 PubMed:15788404}; Vmax=470 nmol/min/mg enzyme with 20:4-LPC as substrate {ECO:0000269 PubMed:15788404}; pH dependence: Optimum pH is 8.5-7.5. {ECO:0000269 PubMed:15788404};
UniProtKB/Swiss-Prot CatalyticActivity:
A lysophosphatidylcholine + H(2)O = a monoacylglycerol + phosphocholine.
UniProtKB/Swiss-Prot CatalyticActivity:
sn-glycero-3-phosphocholine + H(2)O = glycerol + phosphocholine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by EDTA and EGTA in vitro.
UniProtKB/Swiss-Prot Function:
Choline-specific glycerophosphodiester phosphodiesterase. The preferred substrate may be lysosphingomyelin (By similarity). Hydrolyzes lysophosphatidylcholine (LPC) to form monoacylglycerol and phosphorylcholine but not lysophosphatidic acid, showing it has a lysophospholipase C activity. Has a preference for LPC with short (12:0 and 14:0) or polyunsaturated (18:2 and 20:4) fatty acids. Also hydrolyzes glycerophosphorylcholine and sphingosylphosphorylcholine efficiently. Hydrolyzes the classical substrate for phospholipase C, p-nitrophenyl phosphorylcholine in vitro, while it does not hydrolyze the classical nucleotide phosphodiesterase substrate, p-nitrophenyl thymidine 5-monophosphate. Does not hydrolyze diacyl phospholipids such as phosphatidylethanolamine, phosphatidylinositol, phosphatidylserine, phosphatidylglycerol and phosphatidic acid.

Enzyme Numbers (IUBMB) for ENPP6 Gene

Gene Ontology (GO) - Molecular Function for ENPP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008081 phosphoric diester hydrolase activity IDA 15788404
GO:0047390 glycerophosphocholine cholinephosphodiesterase activity IEA,IDA 15788404
genes like me logo Genes that share ontologies with ENPP6: view
genes like me logo Genes that share phenotypes with ENPP6: view

Animal Model Products

CRISPR Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ENPP6 Gene

Localization for ENPP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENPP6 Gene

Cell membrane; Lipid-anchor, GPI-anchor. Note=A small amount of the protein may be found in the extracellular milieu.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ENPP6 Gene COMPARTMENTS Subcellular localization image for ENPP6 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ENPP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 15788404
genes like me logo Genes that share ontologies with ENPP6: view

Pathways & Interactions for ENPP6 Gene

genes like me logo Genes that share pathways with ENPP6: view

Pathways by source for ENPP6 Gene

Interacting Proteins for ENPP6 Gene

Gene Ontology (GO) - Biological Process for ENPP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0019695 choline metabolic process IEA,IDA 15788404
GO:0046475 glycerophospholipid catabolic process TAS --
genes like me logo Genes that share ontologies with ENPP6: view

No data available for SIGNOR curated interactions for ENPP6 Gene

Drugs & Compounds for ENPP6 Gene

(3) Drugs for ENPP6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Experimental Pharma 191
O-Phosphoethanolamine Experimental Pharma 0
Phosphocholine Experimental Pharma 0

(64) Additional Compounds for ENPP6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Arachidonylglycerol
  • (5Z,8Z,11Z,14Z)-2-hydroxy-1-(hydroxymethyl)ethyl ester 5,8,11,14-Eicosatetraenoate
  • (5Z,8Z,11Z,14Z)-2-hydroxy-1-(hydroxymethyl)ethyl ester 5,8,11,14-Eicosatetraenoic acid
  • (all-Z)-2-hydroxy-1-(hydroxymethyl)ethyl ester 5,8,11,14-Eicosatetraenoate
  • (all-Z)-2-hydroxy-1-(hydroxymethyl)ethyl ester 5,8,11,14-Eicosatetraenoic acid
  • 1-Monoacylglyceride
53847-30-6
glycerophosphocholine
  • 2-[[(2,3-Dihydroxypropoxy)hydroxyphosphinyl]oxy]-N,N,N-trimethyl-Ethanaminium inner salt
  • a-Glycerophosphorylcholine
  • a-Glycerylphosphorylcholine
  • alpha-Glycerophosphorylcholine
  • alpha-Glycerylphosphorylcholine
28319-77-9
MG(0:0/14:0/0:0)
  • 1-Monoacylglyceride
  • 1-Monoacylglycerol
  • 2-Myristoyl-glycerol
  • 2-Tetradecanoyl-rac-glycerol
  • b-Monoacylglycerol
MG(0:0/14:1(9Z)/0:0)
  • 1-Monoacylglyceride
  • 1-Monoacylglycerol
  • 2-(9Z-Tetradecenoyl)-rac-glycerol
  • 2-Myristoleoyl-glycerol
  • b-Monoacylglycerol
MG(0:0/15:0/0:0)
  • 1-Monoacylglyceride
  • 1-Monoacylglycerol
  • 2-Pentadecanoyl-glycerol
  • 2-Pentadecanoyl-rac-glycerol
  • b-Monoacylglycerol
genes like me logo Genes that share compounds with ENPP6: view

Transcripts for ENPP6 Gene

Unigene Clusters for ENPP6 Gene

Ectonucleotide pyrophosphatase/phosphodiesterase 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ENPP6 Gene

No ASD Table

Relevant External Links for ENPP6 Gene

GeneLoc Exon Structure for
ENPP6
ECgene alternative splicing isoforms for
ENPP6

Expression for ENPP6 Gene

mRNA expression in normal human tissues for ENPP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENPP6 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x14.8), Brain - Substantia nigra (x7.0), and Nerve - Tibial (x4.8).

Protein differential expression in normal tissues from HIPED for ENPP6 Gene

This gene is overexpressed in Cerebral cortex (36.7) and Spinal cord (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ENPP6 Gene



SOURCE GeneReport for Unigene cluster for ENPP6 Gene Hs.297814

mRNA Expression by UniProt/SwissProt for ENPP6 Gene

Q6UWR7-ENPP6_HUMAN
Tissue specificity: Predominantly expressed in kidney and brain. In the kidney, expressed specifically in the proximal tubules and thin descending limbs of Henle (at protein level).
genes like me logo Genes that share expression patterns with ENPP6: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for ENPP6 Gene

Orthologs for ENPP6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ENPP6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ENPP6 35
  • 84.77 (n)
  • 85.55 (a)
ENPP6 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENPP6 35
  • 90.05 (n)
  • 93.45 (a)
ENPP6 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Enpp6 35
  • 85.48 (n)
  • 88.81 (a)
Enpp6 16
Enpp6 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ENPP6 35
  • 99.17 (n)
  • 99.55 (a)
ENPP6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enpp6 35
  • 86.35 (n)
  • 91.52 (a)
oppossum
(Monodelphis domestica)
Mammalia ENPP6 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENPP6 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENPP6 35
  • 72.52 (n)
  • 72.2 (a)
ENPP6 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENPP6 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enpp6 35
  • 67.88 (n)
  • 66.18 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18662 35
zebrafish
(Danio rerio)
Actinopterygii enpp6 35
  • 63.05 (n)
  • 62.32 (a)
sbcb727 35
enpp6 36
  • 60 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T03G6.3 35
  • 40.82 (n)
  • 27.55 (a)
T03G6.3 36
  • 22 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPP1 36
  • 15 (a)
ManyToMany
NPP2 36
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToOne
Species with no ortholog for ENPP6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ENPP6 Gene

ENSEMBL:
Gene Tree for ENPP6 (if available)
TreeFam:
Gene Tree for ENPP6 (if available)

Paralogs for ENPP6 Gene

Paralogs for ENPP6 Gene

(6) SIMAP similar genes for ENPP6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ENPP6: view

Variants for ENPP6 Gene

Sequence variations from dbSNP and Humsavar for ENPP6 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs4479748 - 184,091,245(+) AGTGC(C/T)GGCGC reference, missense
rs4488969 - 184,097,293(+) GTTGT(C/T)GTAGC reference, missense
rs3990 -- 184,098,493(-) AGGGC(C/T)AGAAG intron-variant
rs1574518 -- 184,166,693(-) CCTCT(A/G)TAAGA intron-variant
rs1316435 -- 184,168,257(+) AGCTT(C/T)GGCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ENPP6 Gene

Variant ID Type Subtype PubMed ID
nsv830166 CNV Gain 17160897
nsv521658 CNV Loss 19592680
nsv830167 CNV Gain 17160897
nsv819624 CNV Loss 19587683

Variation tolerance for ENPP6 Gene

Residual Variation Intolerance Score: 58.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENPP6 Gene

HapMap Linkage Disequilibrium report
ENPP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENPP6 Gene

Disorders for ENPP6 Gene

Relevant External Links for ENPP6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENPP6

No disorders were found for ENPP6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ENPP6 Gene

Publications for ENPP6 Gene

  1. Biochemical and molecular characterization of a novel choline- specific glycerophosphodiester phosphodiesterase belonging to the nucleotide pyrophosphatase/phosphodiesterase family. (PMID: 15788404) Sakagami H. … Arai H. (J. Biol. Chem. 2005) 3 4 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3
  4. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PMID: 19056867) Gonzales P.A. … Knepper M.A. (J. Am. Soc. Nephrol. 2009) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for ENPP6 Gene

Sources for ENPP6 Gene

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