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PIGG (NM_001127178) - phosphatidylinositol glycan anchor biosynthesis class G

Gpi Ethanolamine Phosphate Transferase 2 Isoform 1

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of PIGG protein. View all 7 isoforms
PIGG: GPI ethanolamine phosphate transferase 2 isoform 1
Description:

This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].

Evidence data:
Transcript exon combination :: SRR1803613.43729.1, SRR1803617.104413.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]

##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000453061.7/ ENSP00000415203.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Strand
+
Chromosome
4
Protein
983 residues
All mutations
283
PTM sites
12
CDS
493,124 - 533,158
Transcription
492,988 - 533,710
6.71% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 54872
UniProt
Ensembl