phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

Summary
Gene Symbol
  • PIGG
Aliases
  • FLJ20265
  • GPI ethanolamine phosphate transferase 2
  • GPI7
  • LAS21
  • LAS21 (GPI7) homolog (S. cerevisiae)
Organism
Homo sapiens (human)
NCBI Gene
54872
GGDB ID
HGNC
25985
mRNA
map
  • 4p16.3
Protein
KEGG Gene ID
hsa:54872
PubChem
54872
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • GPI-anchor biosynthesis
  • Glycoprotein
  • Intellectual disability
  • Proteomics identification
  • Reference proteome
  • Transferase
  • Transmembrane helix
Proteins
Displaying all 4 entries
UniProt Protein Name
D6RFE8
Q8NCI4
Q5H8A4
  • GPI7 homolog
  • Phosphatidylinositol-glycan biosynthesis class G protein
E7EWV1
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
GPI anchor biosynthetic process
preassembly of GPI anchor in ER membrane
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Gpi ethanolamine phosphate transferase
Functional Category
  • G: Carbohydrate transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • Q: Secondary metabolites biosynthesis, transport and catabolism
GlycoGene Database (GGDB)
GGDB ID
gg229
Gene Symbol
  • PIGG
KEGG BRITE Database
Orthology
K05310
Name
ethanolamine phosphate transferase 2 subunit G [EC:2.7.-.-]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R05924
Disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 120 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000047 Hypospadias
HP:0000077 Abnormality of the kidney
HP:0000078 Abnormality of the genital system
HP:0000079 Abnormality of the urinary system
HP:0000153 Abnormality of the mouth
HP:0000159 Abnormal lip morphology
HP:0000175 Cleft palate
HP:0000204 Cleft upper lip
Displaying all 3 entries
Disease ID Disease Name
ORPHA:488635
  • intellectual disability, autosomal recessive 53
OMIM:616917
  • intellectual disability, autosomal recessive 53
ORPHA:280
  • Wolf-Hirschhorn syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006740
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class G

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024