Gene

enpp1

ID

ZDB-GENE-040724-172

Name

ectonucleotide pyrophosphatase/phosphodiesterase 1

Symbol

enpp1 Nomenclature History

Previous Names

dgf (1)
si:ch211-142e24.2
zgc:136238

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Predicted to have nucleotide diphosphatase activity and phosphodiesterase I activity. Involved in phosphate ion homeostasis and regulation of bone mineralization. Predicted to localize to cell surface. Human ortholog(s) of this gene implicated in several diseases, including arterial calcification of infancy; end stage renal failure; obesity; ossification of the posterior longitudinal ligament of spine; and type 2 diabetes mellitus. Is expressed in cleithrum and opercle. Orthologous to several human genes including ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 8 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With enpp1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
arterial calcification of infancy	Alliance	Arterial calcification, generalized, of infancy, 1	208000
autosomal recessive hypophosphatemic rickets	Alliance	Hypophosphatemic rickets, autosomal recessive, 2	613312
obesity	Alliance	{Obesity, susceptibility to}	601665
type 2 diabetes mellitus	Alliance	{Diabetes mellitus, non-insulin-dependent, susceptibility to}	125853
		Cole disease	615522

Associated With enpp1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
pseudoxanthoma elasticum	enpp1^{hu4581/hu4581}	standard conditions	Apschner et al., 2014
arterial calcification of infancy	enpp1^{hu4581/hu4581}	standard conditions	Apschner et al., 2014

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001212	Somatomedin B domain
Domain	IPR001604	DNA/RNA non-specific endonuclease/pyrophosphatase/phosphodiesterase domain
Domain	IPR020821	ENPP1-3/EXOG-like, endonuclease/phosphodiesterase domain
Family	IPR002591	Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
Homologous_superfamily	IPR017850	Alkaline-phosphatase-like, core domain superfamily
Homologous_superfamily	IPR036024	Somatomedin B-like domain superfamily
Homologous_superfamily	IPR044925	His-Me finger superfamily
Homologous_superfamily	IPR044929	DNA/RNA non-specific endonuclease superfamily

Domain Details Per Protein

Protein	Length	Alkaline-phosphatase-like, core domain superfamily	DNA/RNA non-specific endonuclease/pyrophosphatase/phosphodiesterase domain	DNA/RNA non-specific endonuclease superfamily	ENPP1-3/EXOG-like, endonuclease/phosphodiesterase domain	His-Me finger superfamily	Somatomedin B domain	Somatomedin B-like domain superfamily	Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
UniProtKB:A0A8M1N7G9 InterPro	876
UniProtKB:B0JZL7 InterPro	878
UniProtKB:A0A8M9PPG3 InterPro	740
UniProtKB:A0A8M3B403 InterPro	836

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	enpp1-201 (1) Ensembl	Ensembl	1,406 nt	Select Tool
mRNA	enpp1-202 (1) Ensembl	Ensembl	3,389 nt	Select Tool
ncRNA	enpp1-002 (1) Ensembl	Ensembl	716 nt	Select Tool
ncRNA	enpp1-003 (1) Ensembl	Ensembl	543 nt	Select Tool
ncRNA	enpp1-005 (1) Ensembl	Ensembl	593 nt	Select Tool
ncRNA	enpp1-006 (1) Ensembl	Ensembl	925 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations