Gene

pign-1

Species
Caenorhabditis elegans
Symbol
pign-1
Name
PhosphatidylInositol Glycan anchor biosynthesis class N homolog 1
Synonyms
  • CELE_Y54E10BR.1
  • M01B12.e
Biotype
protein coding gene
Automated Description
Predicted to enable mannose-ethanolamine phosphotransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Located in endoplasmic reticulum membrane. Is expressed in body wall musculature; hypodermis; intestine; and pharynx. 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).
WB Description
Y54E10BR.1 is an ortholog of human PIGN (phosphatidylinositol glycan anchor biosynthesis class N); Y54E10BR.1 is involved in embryo development and nematode larval development; PIGN has a large loop between the first and second transmembrane domains that contains three conserved motifs present in phosphodiesterases, nucleotide pyrophosphatases, and sulfatases, each of which is believed to be important for the PIGN catalytic activity in the EtNP transferase reaction; the mutations strongly (H263A in motif 3) or moderately (H218A in motif 2) affect the GPI synthesis activity of PIGN as determined by the surface expression of CD59 (GPI-AP) in PIGN-knockout HEK293 cells; PIGN-1/PIGN has a non-canonical function in protein quality control preventing protein aggregation within the ER in C. elegans and in mammalian cells; although PIGN was originally identified as an enzyme involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis, the function of PIGN-1/PIGN in protein quality control is independent of its enzymatic activities.
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12250
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
None

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
WBcel235
Viewer Help
3.058M3.060M3.062M3.064M3.066M3.068M

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions