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 ZFIN BLAST
mRNA	enpp1-202 (1) Ensembl	Ensembl	3,389 nt	Select Tool ZFIN BLAST
ncRNA	enpp1-002 (1) Ensembl	Ensembl	716 nt	Select Tool ZFIN BLAST
ncRNA	enpp1-003 (1) Ensembl	Ensembl	543 nt	Select Tool ZFIN BLAST
ncRNA	enpp1-005 (1) Ensembl	Ensembl	593 nt	Select Tool ZFIN BLAST
ncRNA	enpp1-006 (1) Ensembl	Ensembl	925 nt	Select Tool ZFIN BLAST

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