ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ENTPD3provided by HGNC
Official Full Name: ectonucleoside triphosphate diphosphohydrolase 3provided by HGNC
Primary source: HGNC:HGNC:3365
See related: Ensembl:ENSG00000168032 MIM:603161; AllianceGenome:HGNC:3365
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: HB6; CD39L3; NTPDase-3
Summary: This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014]
Expression: Broad expression in urinary bladder (RPKM 4.1), thyroid (RPKM 2.0) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p22.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (40387184..40428744)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (40402253..40443812)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (40428675..40470235)

Chromosome 3 - NC_000003.12 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?

Silencing NTPDase3 activity rehabilitates the osteogenic commitment of post-menopausal stem cell bone progenitors.
Title: Silencing NTPDase3 activity rehabilitates the osteogenic commitment of post-menopausal stem cell bone progenitors.
ENTPD3 Marks Mature Stem Cell-Derived beta-Cells Formed by Self-Aggregation In Vitro.
Title: ENTPD3 Marks Mature Stem Cell-Derived β-Cells Formed by Self-Aggregation In Vitro.
NTPDase2 and -3 are ecto-enzymes expressed in the enteric nervous system. Both enzymes confer protection against gut inflammation in experimental colitis and exhibit alterations in Crohn's disease. These observations suggest that purinergic signalling modulated by E-NTPDases governs neuro-immune interactions that are relevant in Crohn's disease.
Title: Expression of Ecto-nucleoside Triphosphate Diphosphohydrolases-2 and -3 in the Enteric Nervous System Affects Inflammation in Experimental Colitis and Crohn's Disease.
Despite the increased level of NTPDase1 and NTPDase3 mRNA expression in chondrogenically induced MSCs, their activity toward ATP remains quite low.
Title: Chondrogenic Differentiation of Human Mesenchymal Stem Cells Results in Substantial Changes of Ecto-Nucleotides Metabolism.
NTPDase3 is the major ectonucleotidase in pancreatic beta-cells in multiple species and modulates insulin secretion by controlling activation of purinergic receptors.
Title: Ectonucleotidase NTPDase3 is abundant in pancreatic β-cells and regulates glucose-induced insulin secretion.
Cystic fibrosis epithelia exhibit >50% lower NTPDase1 activity, protein, and mRNA levels than normal epithelia, whereas these parameters are threefold higher for NTPDase3.
Title: Cystic fibrosis remodels the regulation of purinergic signaling by NTPDase1 (CD39) and NTPDase3.
Generation of a helical model for NTPDase3 suggests the importance of putative hydrogen bond interactions of conserved polar residues which are critical for enzyme expression, activity, and its susceptibility to membrane perturbations.
Title: Conserved polar residues stabilize transmembrane domains and promote oligomerization in human nucleoside triphosphate diphosphohydrolase 3.
efficiently inhibit the NTPDase3expressed in insulin secreting human pancreatic islet cells in situ
Title: Characterization of a monoclonal antibody as the first specific inhibitor of human NTP diphosphohydrolase-3 : partial characterization of the inhibitory epitope and potential applications.
NTPDase3 sequence revealed a high degree of structural fold similarity with a bacterial exopolyphosphatase
Title: Characterization of disulfide bonds in human nucleoside triphosphate diphosphohydrolase 3 (NTPDase3): implications for NTPDase structural modeling.

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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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables GDP phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables UDP phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables apyrase activity	IEA Inferred from Electronic Annotation more info
enables nucleoside diphosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribonucleoside triphosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ribonucleoside triphosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in nucleoside diphosphate catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleoside triphosphate catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ectonucleoside triphosphate diphosphohydrolase 3

Names: CD39 antigen-like 3; NTPDase 3; ecto-ATP diphosphohydrolase 3; ecto-ATPDase 3; ecto-ATPase 3; ecto-apyrase 3

NP_001239.2

EC 3.6.1.5

NP_001278889.1

EC 3.6.1.5

NP_001278890.1

EC 3.6.1.5

XP_011532568.1

EC 3.6.1.5

XP_054204452.1

EC 3.6.1.5

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

NG_047041.1 RefSeqGene

Range

5029..46589

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001248.4 → NP_001239.2 ectonucleoside triphosphate diphosphohydrolase 3 isoform 1

See identical proteins and their annotated locations for NP_001239.2

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)

AC104186, AF039917, DA209533

Consensus CDS

CCDS2691.1

UniProtKB/Swiss-Prot

B2R8D0, G5E9N0, O60495, O75355, Q8N6K2

Related

ENSP00000301825.3, ENST00000301825.8

Conserved Domains (1) summary

cl17037
Location:56 → 478

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
NM_001291960.2 → NP_001278889.1 ectonucleoside triphosphate diphosphohydrolase 3 isoform 1

See identical proteins and their annotated locations for NP_001278889.1

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)

AC104186, AK313322

Consensus CDS

CCDS2691.1

UniProtKB/Swiss-Prot

B2R8D0, G5E9N0, O60495, O75355, Q8N6K2

Related

ENSP00000401565.1, ENST00000456402.5

Conserved Domains (1) summary

cl17037
Location:56 → 478

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
NM_001291961.2 → NP_001278890.1 ectonucleoside triphosphate diphosphohydrolase 3 isoform 2

See identical proteins and their annotated locations for NP_001278890.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and includes a different terminal 3' exon compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AC104186, BC029869

Consensus CDS

CCDS74919.1

UniProtKB/Swiss-Prot

O75355

Related

ENSP00000404671.1, ENST00000445129.1

Conserved Domains (1) summary

cl17037
Location:56 → 448

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

40387184..40428744

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011534266.4 → XP_011532568.1 ectonucleoside triphosphate diphosphohydrolase 3 isoform X1

Conserved Domains (1) summary

cl17037
Location:56 → 281

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily