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 21 - 29 of 29 in total
DO ID Disease Name Source
DOID:4015 sarcomatoid carcinoma
DOID:4159 skin cancer
DOID:4766 embryoma
DOID:5672 large intestine cancer
DOID:684 hepatocellular carcinoma
DOID:8923 skin melanoma
DOID:8927 learning disability
DOID:9256 colorectal cancer
DOID:9261 nasopharynx carcinoma
The Human Phenotype Ontology
Displaying entries 31 - 40 of 51 in total
HPO ID HPO Term
HP:0001382 Joint hypermobility
HP:0002059 Cerebral atrophy
HP:0002079 Hypoplasia of the corpus callosum
HP:0002187 Intellectual disability, profound
HP:0002188 Delayed CNS myelination
HP:0002280 Enlarged cisterna magna
HP:0002650 Scoliosis
HP:0002714 Downturned corners of mouth
HP:0002719 Recurrent infections
HP:0003100 Slender long bone
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
Ortholog
Displaying entries 81 - 84 of 84 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
103745870 NANGA25144
116452523 CORMO05571
103276666 CARSF20724
115615163 STRHB24294

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024