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ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 [ Homo sapiens (human) ]

Gene ID: 59084, updated on 3-Apr-2024

Summary

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Official Symbol
ENPP5provided by HGNC
Official Full Name
ectonucleotide pyrophosphatase/phosphodiesterase family member 5provided by HGNC
Primary source
HGNC:HGNC:13717
See related
Ensembl:ENSG00000112796 MIM:617001; AllianceGenome:HGNC:13717
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPP5; NPP-5
Summary
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]
Expression
Biased expression in thyroid (RPKM 24.6), testis (RPKM 20.9) and 13 other tissues See more
Orthologs
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Genomic context

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See ENPP5 in Genome Data Viewer
Location:
6p21.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (46159185..46170980, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (45994273..46006158, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (46126922..46138717, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene chloride intracellular channel 5 Neighboring gene RNA, U6 small nuclear 754, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17269 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 4 Neighboring gene uncharacterized LOC105375079 Neighboring gene actin gamma 1 pseudogene 9 Neighboring gene regulator of calcineurin 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. New oncogenic functions of LINE1 retroelement as a ceRNA for tumor suppressive microRNA miR-126 on ENPP5. Lee KH, et al. PLoS One, 2023. PMID 37352273, Free PMC Article
  2. A key tyrosine substitution restricts nucleotide hydrolysis by the ectoenzyme NPP5. Gorelik A, et al. FEBS J, 2017 Nov. PMID 28898552
  3. Structural and catalytic similarities between nucleotide pyrophosphatases/phosphodiesterases and alkaline phosphatases. Gijsbers R, et al. J Biol Chem, 2001 Jan 12. PMID 11027689
  4. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. New oncogenic functions of LINE1 retroelement as a ceRNA for tumor suppressive microRNA miR-126 on ENPP5.
    Title: New oncogenic functions of LINE1 retroelement as a ceRNA for tumor suppressive microRNA miR-126 on ENPP5.
  2. The ENPP5 is able to cleave nicotinamide adenine dinucleotide (NAD), suggesting a potential role of this enzyme in NAD-based neurotransmission.
    Title: A key tyrosine substitution restricts nucleotide hydrolysis by the ectoenzyme NPP5.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0879

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD+ diphosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell communication ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
ectonucleotide pyrophosphatase/phosphodiesterase family member 5
Names
E-NPP 5
ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)
NP_001277001.1
NP_001277002.1
NP_067547.1
XP_005249317.1
XP_011513088.1
XP_054212113.1
XP_054212114.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033986.1 RefSeqGene

    Range
    5031..16826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001290072.2 → NP_001277001.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001277001.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1). Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AY358514, BC027615, BF593433, BX647968, DC321540
    Consensus CDS
    CCDS4915.1
    UniProtKB/Swiss-Prot
    Q5TFV2, Q6UX49, Q9UJA9
    UniProtKB/TrEMBL
    A8K9X7
    Related
    ENSP00000360436.1, ENST00000371383.7
    Conserved Domains (1) summary
    pfam01663
    Location:30 → 342
    Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

  2. NM_001290073.2 → NP_001277002.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK295192, BC027615, BF593433, BX647968, DC332590
    UniProtKB/TrEMBL
    B4DHN2
    Conserved Domains (2) summary
    pfam01663
    Location:1 → 248
    Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase
    cd16018
    Location:1 → 288
    Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin

  3. NM_021572.6 → NP_067547.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform 1 precursor

    See identical proteins and their annotated locations for NP_067547.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    BC027615, BF593433, BX647968, DC332590
    Consensus CDS
    CCDS4915.1
    UniProtKB/Swiss-Prot
    Q5TFV2, Q6UX49, Q9UJA9
    UniProtKB/TrEMBL
    A8K9X7
    Related
    ENSP00000230565.3, ENST00000230565.3
    Conserved Domains (1) summary
    pfam01663
    Location:30 → 342
    Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    46159185..46170980 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249260.5 → XP_005249317.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform X1

    See identical proteins and their annotated locations for XP_005249317.1

    UniProtKB/Swiss-Prot
    Q5TFV2, Q6UX49, Q9UJA9
    UniProtKB/TrEMBL
    A8K9X7
    Conserved Domains (1) summary
    pfam01663
    Location:30 → 342
    Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

  2. XM_011514786.4 → XP_011513088.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform X1

    See identical proteins and their annotated locations for XP_011513088.1

    UniProtKB/Swiss-Prot
    Q5TFV2, Q6UX49, Q9UJA9
    UniProtKB/TrEMBL
    A8K9X7
    Conserved Domains (1) summary
    pfam01663
    Location:30 → 342
    Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    45994273..46006158 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356139.1 → XP_054212114.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform X1

    UniProtKB/Swiss-Prot
    Q5TFV2, Q6UX49, Q9UJA9

  2. XM_054356138.1 → XP_054212113.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform X1

    UniProtKB/Swiss-Prot
    Q5TFV2, Q6UX49, Q9UJA9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UJA9.1 GenPept UniProtKB/Swiss-Prot:Q9UJA9

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