Gene

pign

ID

ZDB-GENE-080204-114

Name

phosphatidylinositol glycan anchor biosynthesis, class N

Symbol

pign Nomenclature History

Previous Names

zgc:172324

Type

protein_coding_gene

Location

Chr: 24 Mapping Details/Browsers

Description

Predicted to have mannose-ethanolamine phosphotransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Predicted to localize to endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in multiple congenital anomalies-hypotonia-seizures syndrome 1. Orthologous to human PIGN (phosphatidylinositol glycan anchor biosynthesis class N).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

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: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pign Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
multiple congenital anomalies-hypotonia-seizures syndrome 1	Alliance	Multiple congenital anomalies-hypotonia-seizures syndrome 1	614080

Associated With pign Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR017852	GPI ethanolamine phosphate transferase 1, C-terminal
Domain	IPR037671	GPI ethanolamine phosphate transferase 1, N-terminal
Family	IPR002591	Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
Family	IPR007070	GPI ethanolamine phosphate transferase 1
Homologous_superfamily	IPR017850	Alkaline-phosphatase-like, core domain superfamily