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Aliases for ENPP5 Gene

Aliases for ENPP5 Gene

  • Ectonucleotide Pyrophosphatase/Phosphodiesterase 5 (Putative) 2 3 5
  • E-NPP 5 3 4
  • NPP-5 3 4
  • Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 5 3
  • EC 3.1.-.- 4
  • NPP5 3

External Ids for ENPP5 Gene

Previous GeneCards Identifiers for ENPP5 Gene

  • GC06M046130
  • GC06M046174
  • GC06M046234
  • GC06M045851

Summaries for ENPP5 Gene

Entrez Gene Summary for ENPP5 Gene

  • This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]

GeneCards Summary for ENPP5 Gene

ENPP5 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 5 (Putative)) is a Protein Coding gene. Diseases associated with ENPP5 include Severe Cutaneous Adverse Reaction. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is ENPP4.

UniProtKB/Swiss-Prot for ENPP5 Gene

  • May play a role in neuronal cell communication. Lacks nucleotide pyrophosphatase and lysopholipase D activity (By similarity).

Additional gene information for ENPP5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENPP5 Gene

Genomics for ENPP5 Gene

GeneHancer (GH) Regulatory Elements for ENPP5 Gene

Promoters and enhancers for ENPP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J046170 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 +0.0 34 1.6 PKNOX1 INSM2 KLF17 SIN3A FEZF1 ZNF2 RFX5 ZNF335 GLIS2 FOS ENPP5 ENPP4 ENSG00000231769
GH06J046190 Enhancer 0.3 FANTOM5 20.8 -20.1 -20142 0.4 ATF2 ENPP5 ENPP4 ENSG00000231769 CLIC5 ACTG1P9
GH06J046184 Enhancer 0.5 Ensembl ENCODE 7.7 -13.3 -13291 0.2 MZF1 ENPP4 ENSG00000231769 ENPP5 ACTG1P9
GH06J046191 Enhancer 0.2 ENCODE 11.6 -21.1 -21075 0.6 ENPP5 ENPP4 ENSG00000231769 ACTG1P9
GH06J046203 Enhancer 0.2 ENCODE 11.2 -32.5 -32530 1 ACTG1P9 ENPP5 SLC25A27
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ENPP5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ENPP5 gene promoter:

Genomic Locations for ENPP5 Gene

Genomic Locations for ENPP5 Gene
chr6:46,159,182-46,171,010
(GRCh38/hg38)
Size:
11,829 bases
Orientation:
Minus strand
chr6:46,126,924-46,138,717
(GRCh37/hg19)

Genomic View for ENPP5 Gene

Genes around ENPP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENPP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENPP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENPP5 Gene

Proteins for ENPP5 Gene

  • Protein details for ENPP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJA9-ENPP5_HUMAN
    Recommended name:
    Ectonucleotide pyrophosphatase/phosphodiesterase family member 5
    Protein Accession:
    Q9UJA9
    Secondary Accessions:
    • Q5TFV2
    • Q6UX49

    Protein attributes for ENPP5 Gene

    Size:
    477 amino acids
    Molecular mass:
    54666 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ENPP5 Gene

neXtProt entry for ENPP5 Gene

Post-translational modifications for ENPP5 Gene

  • N-glycosylated.
  • Glycosylation at Asn389, isoforms=382, Asn369, isoforms=362, Asn329, isoforms=292, Asn158, and isoforms=101
  • Modification sites at PhosphoSitePlus

Other Protein References for ENPP5 Gene

No data available for DME Specific Peptides for ENPP5 Gene

Domains & Families for ENPP5 Gene

Gene Families for ENPP5 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ENPP5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UJA9

UniProtKB/Swiss-Prot:

ENPP5_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 ENPP5: view

Function for ENPP5 Gene

Molecular function for ENPP5 Gene

UniProtKB/Swiss-Prot Function:
May play a role in neuronal cell communication. Lacks nucleotide pyrophosphatase and lysopholipase D activity (By similarity).

Enzyme Numbers (IUBMB) for ENPP5 Gene

Phenotypes From GWAS Catalog for ENPP5 Gene

Gene Ontology (GO) - Molecular Function for ENPP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ENPP5: view
genes like me logo Genes that share phenotypes with ENPP5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ENPP5

miRNA for ENPP5 Gene

miRTarBase miRNAs that target ENPP5

Clone Products

  • Addgene plasmids for ENPP5

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ENPP5 Gene

Localization for ENPP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENPP5 Gene

Secreted. Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENPP5 gene
Compartment Confidence
plasma membrane 4
extracellular 4
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ENPP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ENPP5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ENPP5 Gene

Pathways & Interactions for ENPP5 Gene

SuperPathways for ENPP5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ENPP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ENPP5: view

No data available for Pathways by source and SIGNOR curated interactions for ENPP5 Gene

Drugs & Compounds for ENPP5 Gene

No Compound Related Data Available

Transcripts for ENPP5 Gene

Unigene Clusters for ENPP5 Gene

Ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative):
Representative Sequences:

Clone Products

  • Addgene plasmids for ENPP5

Alternative Splicing Database (ASD) splice patterns (SP) for ENPP5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7
SP1: - -
SP2: - - -
SP3: -
SP4: - -
SP5:

Relevant External Links for ENPP5 Gene

GeneLoc Exon Structure for
ENPP5
ECgene alternative splicing isoforms for
ENPP5

Expression for ENPP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENPP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ENPP5 Gene

This gene is overexpressed in Breast (27.8), Frontal cortex (17.1), Retina (10.5), Testis (6.8), and Islet of Langerhans (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ENPP5 Gene



Protein tissue co-expression partners for ENPP5 Gene

NURSA nuclear receptor signaling pathways regulating expression of ENPP5 Gene:

ENPP5

SOURCE GeneReport for Unigene cluster for ENPP5 Gene:

Hs.35198

Evidence on tissue expression from TISSUES for ENPP5 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ENPP5: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENPP5 Gene

Orthologs for ENPP5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ENPP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENPP5 34 33
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ENPP5 34 33
  • 90.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ENPP5 34 33
  • 86.65 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enpp5 33
  • 83.86 (n)
mouse
(Mus musculus)
Mammalia Enpp5 16 34 33
  • 83.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ENPP5 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENPP5 34
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 32 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii enpp5 34 33
  • 58.24 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000982 33
  • 46.21 (n)
worm
(Caenorhabditis elegans)
Secernentea C01B10.9 34 35
  • 23 (a)
OneToMany
Species where no ortholog for ENPP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ENPP5 Gene

ENSEMBL:
Gene Tree for ENPP5 (if available)
TreeFam:
Gene Tree for ENPP5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ENPP5: view image

Paralogs for ENPP5 Gene

Paralogs for ENPP5 Gene

(5) SIMAP similar genes for ENPP5 Gene using alignment to 1 proteins:

  • ENPP5_HUMAN
genes like me logo Genes that share paralogs with ENPP5: view

Variants for ENPP5 Gene

Sequence variations from dbSNP and Humsavar for ENPP5 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000025781 -- 46,167,472(-) A/G coding_sequence_variant, missense_variant
rs1000126170 -- 46,164,825(-) G/A intron_variant
rs1000237618 -- 46,164,468(-) A/G intron_variant
rs1000349599 -- 46,171,229(-) G/A upstream_transcript_variant
rs1000616781 -- 46,159,929(-) C/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for ENPP5 Gene

Variant ID Type Subtype PubMed ID
esv3576147 CNV gain 25503493

Variation tolerance for ENPP5 Gene

Residual Variation Intolerance Score: 69.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.96; 97.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENPP5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENPP5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENPP5 Gene

Disorders for ENPP5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENPP5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
severe cutaneous adverse reaction
  • sjs
- elite association - COSMIC cancer census association via MalaCards
Search ENPP5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ENPP5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ENPP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENPP5 Gene

Publications for ENPP5 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  3. Structural and catalytic similarities between nucleotide pyrophosphatases/phosphodiesterases and alkaline phosphatases. (PMID: 11027689) Gijsbers R … Bollen M (The Journal of biological chemistry 2001) 2 3 58
  4. A key tyrosine substitution restricts nucleotide hydrolysis by the ectoenzyme NPP5. (PMID: 28898552) Gorelik A … Nagar B (The FEBS journal 2017) 3 58
  5. A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome. (PMID: 21121903) Rasi S … Rossi D (British journal of haematology 2011) 44 58

Products for ENPP5 Gene

Sources for ENPP5 Gene

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