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 enable mannose-ethanolamine phosphotransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in 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