ENPP4 ectonucleotide pyrophosphatase/phosphodiesterase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ENPP4provided by HGNC
Official Full Name: ectonucleotide pyrophosphatase/phosphodiesterase 4provided by HGNC
Primary source: HGNC:HGNC:3359
See related: Ensembl:ENSG00000001561 MIM:617000; AllianceGenome:HGNC:3359
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NPP4
Summary: Enables bis(5'-adenosyl)-triphosphatase activity. Involved in positive regulation of blood coagulation and purine ribonucleoside catabolic process. Located in extracellular exosome and membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 15.7), brain (RPKM 14.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (46129989..46146688)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (45965077..45981776)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (46097726..46114425)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The combined studies expand our understanding of NPP1 and NPP4 substrate specificity and range and provide a rational mechanism by which polymorphisms in NPP1 confer stroke resistance.
Title: Molecular basis of purinergic signal metabolism by ectonucleotide pyrophosphatase/phosphodiesterases 4 and 1 and implications in stroke.
NPP4 promotes hemostasis in vivo by augmenting ADP-mediated platelet aggregation at the site of vascular injury.
Title: NPP4 is a procoagulant enzyme on the surface of vascular endothelium.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91244 (e-PCR)
- UniSTS:92993

RH93605 (e-PCR)
- UniSTS:88409

STS-AA037785 (e-PCR)
- UniSTS:60290

RH68105 (e-PCR)
- UniSTS:54761

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables bis(5'-adenosyl)-triphosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of blood coagulation	IDA Inferred from Direct Assay more info	PubMed
involved_in purine ribonucleoside catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in ficolin-1-rich granule membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: bis(5'-adenosyl)-triphosphatase ENPP4

Names: AP3A hydrolase; AP3Aase; E-NPP 4; NPP-4; ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative function); ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative); ectonucleotide pyrophosphatase/phosphodiesterase family member 4

NP_055751.1

EC 3.6.1.29

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.

mRNA and Protein(s)

NM_014936.5 → NP_055751.1 bis(5'-adenosyl)-triphosphatase ENPP4 precursor

See identical proteins and their annotated locations for NP_055751.1

Status: VALIDATED

Source sequence(s)

AB020686, CA433087, DA261977

Consensus CDS

CCDS34468.1

UniProtKB/Swiss-Prot

A8K5G1, Q7L2N1, Q9Y6X5

Related

ENSP00000318066.3, ENST00000321037.5

Conserved Domains (2) summary

pfam01663
Location:28 → 339

Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

cd16018
Location:26 → 379

Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin