phosphatidylinositol glycan anchor biosynthesis class M

Summary
Gene Symbol
  • PIGM
Aliases
  • DPM:GlcN-(acyl-)PI mannosyltransferase
  • GPI mannosyltransferase 1
  • GPI-MT-I
  • PIG-M
  • dol-P-Man dependent GPI mannosyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
93183
GGDB ID
HGNC
18858
mRNA
map
  • 1q23.2
Protein
OMIM
KEGG Gene ID
hsa:93183
PubChem
93183
Alliance of Genome Resources
Annotation
Keyword
  • Endoplasmic reticulum
  • GPI-anchor biosynthesis
  • Glycosyltransferase
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9H3S5
  • GPI mannosyltransferase I
  • Phosphatidylinositol-glycan biosynthesis class M protein
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
GPI anchor biosynthetic process
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg221
Gene Symbol
  • PIGM
KEGG BRITE Database
Orthology
K05284
Name
GPI mannosyltransferase 1 subunit M [EC:2.4.1.-]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R05919
Disease
Disease Ontology
Displaying all 9 entries
DO ID Disease Name Source
DOID:0060284 paroxysmal nocturnal hemoglobinuria
DOID:10762 portal hypertension
DOID:11512 Budd-Chiari syndrome
DOID:11695 portal vein thrombosis
DOID:11832 visual epilepsy
DOID:1826 epilepsy
DOID:2234 focal epilepsy
DOID:2452 thrombophilia
DOID:3327 partial motor epilepsy
The Human Phenotype Ontology
Displaying entries 1 - 10 of 11 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000750 Delayed speech and language development
HP:0001409 Portal hypertension
HP:0001744 Splenomegaly
HP:0002121 Generalized non-motor (absence) seizure
HP:0002240 Hepatomegaly
HP:0003593 Infantile onset
HP:0004936 Venous thrombosis
HP:0005561 Abnormal bone marrow cell morphology
HP:0010819 Atonic seizure
Displaying 1 entry
Disease ID Disease Name
OMIM:610293
  • hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006247
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class M

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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: August 19, 2024