phosphatidylinositol glycan anchor biosynthesis class U

Summary
Gene Symbol
  • PIGU
Aliases
  • GAB1
  • GPI and Actin Bar homolog (S. cerevisiae)
  • GPI transamidase subunit PIGU
  • PIG-U
  • bA346K17.2
Organism
Homo sapiens (human)
External Links
NCBI Gene
128869
GGDB ID
HGNC
15791
mRNA
map
  • 20q11.22
Protein
OMIM
KEGG Gene ID
hsa:128869
PubChem
128869
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Endoplasmic reticulum
  • Epilepsy
  • GPI-anchor biosynthesis
  • Intellectual disability
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9H490
  • Cell division cycle protein 91-like 1
  • GPI transamidase component PIG-U
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000101464

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
gg234
Gene Symbol
  • PIGU
KEGG BRITE Database
Orthology
K05293
Name
GPI-anchor transamidase subunit U
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 29 in total
DO ID Disease Name Source
DOID:0060249 scoliosis
DOID:0080199 colorectal carcinoma
DOID:0080525 differentiated thyroid gland carcinoma
DOID:10041 dysplastic nevus syndrome
DOID:1059 intellectual disability
DOID:11054 urinary bladder cancer
DOID:11832 visual epilepsy
DOID:1443 cerebral degeneration
DOID:1612 breast cancer
DOID:162 cancer
The Human Phenotype Ontology
Displaying entries 1 - 10 of 51 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000154 Wide mouth
HP:0000218 High palate
HP:0000219 Thin upper lip vermilion
HP:0000238 Hydrocephalus
HP:0000272 Malar flattening
HP:0000276 Long face
HP:0000286 Epicanthus
HP:0000307 Pointed chin
HP:0000319 Smooth philtrum
Displaying 1 entry
Disease ID Disease Name
OMIM:618590
  • glycosylphosphatidylinositol biosynthesis defect 21
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006763
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class U

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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