phosphatidylinositol glycan anchor biosynthesis class H

Summary
Gene Symbol
  • PIGH
Aliases
  • GPI-H
  • phosphatidylinositol N-acetylglucosaminyltransferase subunit H
Organism
Homo sapiens (human)
External Links
NCBI Gene
5283
GGDB ID
HGNC
8964
mRNA
map
  • 14q24.1
Protein
OMIM
KEGG Gene ID
hsa:5283
PubChem
5283
Alliance of Genome Resources
Annotation
Keyword
  • Autism spectrum disorder
  • Cytoplasm
  • Disease variant
  • Epilepsy
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
Q14442
  • Phosphatidylinositol-glycan biosynthesis class H protein
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
GPI anchor biosynthetic process
protein modification process
GO Hierarchy
Human Protein Atlas
ENSG00000100564

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

GlycoGene Database (GGDB)
GGDB ID
gg216
Gene Symbol
  • PIGH
KEGG BRITE Database
Orthology
K03858
Name
phosphatidylinositol N-acetylglucosaminyltransferase subunit H
References
Disease
Disease Ontology
Displaying all 6 entries
DO ID Disease Name Source
DOID:10907 microcephaly
DOID:11832 visual epilepsy
DOID:12849 autistic disorder
DOID:162 cancer
DOID:1826 epilepsy
DOID:4766 embryoma
The Human Phenotype Ontology
Displaying entries 21 - 23 of 23 in total
HPO ID HPO Term
HP:0006989 Dysplastic corpus callosum
HP:0011463 Childhood onset
HP:0100025 Overfriendliness
Displaying 1 entry
Disease ID Disease Name
OMIM:618010
  • glycosylphosphatidylinositol biosynthesis defect 17
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000640
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class H

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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