1. Gene
  2. ENPP6 - ectonucleotide pyrophosphatase/phosphodiesterase 6 Gene

ENPP6 - ectonucleotide pyrophosphatase/phosphodiesterase 6 Gene

Homo sapiens

Also known as NPP6

Gene ID: 133121 | Gene type: protein coding

About ENPP6

Cytogenetic location: 4q35.1 Genomic coordinates (GRCh38): 4:184,088,706-184,217,873 (from NCBI)

This gene has 4 transcripts (splice variants), 221 orthologues and 6 paralogues. Biased expression in kidney (RPKM 13.7), ovary (RPKM 7.0) and 5 other tissues.

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]

ENPP6 Products(1)

mRNA Protein Name
NM_153343.4 NP_699174.1 glycerophosphocholine cholinephosphodiesterase ENPP6 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables glycerophosphocholine cholinephosphodiesterase activity EXP
EXP: Inferred from Experiment
15788404 GOA
enables glycerophosphocholine cholinephosphodiesterase activity IDA
IDA: Inferred from direct assay
15788404 GOA
enables phosphoric diester hydrolase activity IDA
IDA: Inferred from direct assay
15788404 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Reference Source
involved in choline metabolic process IDA
IDA: Inferred from direct assay
15788404 GOA
involved in lipid metabolic process IDA
IDA: Inferred from direct assay
15788404 GOA
Cellular Component GO Annotation Evidence Reference Source
located in extracellular region IDA
IDA: Inferred from direct assay
15788404 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
15788404 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ENPP6 Protein Structure

Phosphodiest

Phosphodiest: Type I phosphodiesterase / nucleotide pyrophosphatase (26 - 357)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 440 a.a.
Protein Preferred Names Protein Names

glycerophosphocholine cholinephosphodiesterase ENPP6

B830047L21Rik

Related Diseases

Diseases Alias
Bartter Syndrome, Type 1, Antenatal

Hyperprostaglandin E Syndrome 1

Bartter Disease Type 1

BARTS1

Bartter Syndrome, Type 1

Bartter Syndrome Type 1

Hypokalemic Alkalosis With Hypercalciuria Antenatal 1

Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal

Bartter Syndrome Type 1 Antenatal

Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal

Bartter Syndrome Antenatal Type 1

Antenatal Bartter Syndrome Type 1

Bartter Syndrome Type I

Bartter Syndrome 1, Antenatal

Abs1

Antenatal Bartter Syndrome 1

Bs1

Bartter Syndrome, Antenatal Type 1

Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ENPP6 RGD RGD:1311645
Canis familiaris ENPP6 VGNC VGNC:40377
Macaca mulatta ENPP6 VGNC VGNC:72089
Mus musculus ENPP6 MGD MGI:2445171
Felis catus ENPP6 VGNC VGNC:61876
Bos taurus ENPP6 VGNC VGNC:28507