ENPP6 ectonucleotide pyrophosphatase/phosphodiesterase 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ENPP6provided by HGNC
Official Full Name: ectonucleotide pyrophosphatase/phosphodiesterase 6provided by HGNC
Primary source: HGNC:HGNC:23409
See related: Ensembl:ENSG00000164303 MIM:616983; AllianceGenome:HGNC:23409
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: NPP6
Summary: Enables glycerophosphocholine cholinephosphodiesterase activity. Involved in choline metabolic process and lipid metabolic process. Located in extracellular region and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in kidney (RPKM 13.7), ovary (RPKM 7.0) and 5 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 4q35.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (184088706..184217873, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (187432563..187561688, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (185009859..185139026, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NPP6 has a specific role through the hydrolysis of polyunsaturated LPC, glycerophosphorylcholine, or sphingosylphosphorylcholine in kidney and brain
Title: Biochemical and molecular characterization of a novel choline-specific glycerophosphodiester phosphodiesterase belonging to the nucleotide pyrophosphatase/phosphodiesterase family.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D4S2954 (e-PCR)
- UniSTS:30997

D4S1221 (e-PCR)
- UniSTS:30757

D4S977 (e-PCR)
- UniSTS:45098

G34071 (e-PCR)
- UniSTS:15154

D4S1179 (e-PCR)
- UniSTS:27989

SHGC-144005 (e-PCR)
- UniSTS:172127

G41971 (e-PCR)
- UniSTS:5729

SHGC-106445 (e-PCR)
- UniSTS:169884

SHGC-81154 (e-PCR)
- UniSTS:103339

SHGC-50702 (e-PCR)
- UniSTS:204

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glycerophosphocholine cholinephosphodiesterase activity	EXP Inferred from Experiment more info	PubMed
enables glycerophosphocholine cholinephosphodiesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables glycerophosphodiester phosphodiesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphoric diester hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in choline metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in choline metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycerophospholipid catabolic process	TAS Traceable Author Statement more info
involved_in lipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: glycerophosphocholine cholinephosphodiesterase ENPP6

Names: B830047L21Rik; E-NPP 6; GPC-Cpde; NPP-6; choline-specific glycerophosphodiester phosphodiesterase; ectonucleotide pyrophosphatase/phosphodiesterase family member 6

NP_699174.1

EC 3.1.4.38

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_153343.4 → NP_699174.1 glycerophosphocholine cholinephosphodiesterase ENPP6 precursor

See identical proteins and their annotated locations for NP_699174.1

Status: VALIDATED

Source sequence(s)

AC079080, AC107222, BC035035

Consensus CDS

CCDS3834.1

UniProtKB/Swiss-Prot

Q4W5Q1, Q6UWR7, Q96M57

Related

ENSP00000296741.2, ENST00000296741.7

Conserved Domains (1) summary

cd16018
Location:24 → 397

Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin