post-GPI attachment to proteins phospholipase 3

Summary
Gene Symbol
  • PGAP3
Aliases
  • CAB2
  • MGC9753
  • PER1
  • PP1498
  • post-GPI attachment to proteins 3
Organism
Homo sapiens (human)
External Links
NCBI Gene
93210
HGNC
23719
KEGG Gene ID
hsa:93210
PubChem
93210
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • GPI-anchor biosynthesis
  • Glycoprotein
  • Golgi apparatus
  • Intellectual disability
  • Proteomics identification
  • Reference proteome
  • Signal
  • Transmembrane helix
Proteins
Displaying all 3 entries
UniProt Protein Name
Q96FM1
  • COS16 homolog
  • Gene coamplified with ERBB2 protein
  • PER1-like domain-containing protein 1
A8K0P7
J3QKU0
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
GPI anchor biosynthetic process
GPI anchor metabolic process
GO Hierarchy
Human Protein Atlas
ENSG00000161395

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.

KEGG BRITE Database
Orthology
K23553
Name
post-GPI attachment to proteins factor 3
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 45 in total
DO ID Disease Name Source
DOID:0050589 inflammatory bowel disease
DOID:0050841 focal hand dystonia
DOID:0060192 Crohn's colitis
DOID:0060216 Cogan syndrome
DOID:0060249 scoliosis
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4
DOID:0110213 isolated cleft palate
DOID:0110892 inflammatory bowel disease 1
DOID:10293 monocular esotropia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 74 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000126 Hydronephrosis
HP:0000175 Cleft palate
HP:0000193 Bifid uvula
HP:0000218 High palate
HP:0000219 Thin upper lip vermilion
HP:0000248 Brachycephaly
HP:0000252 Microcephaly
HP:0000280 Coarse facial features
HP:0000286 Epicanthus
Displaying all 2 entries
Disease ID Disease Name
OMIM:615716
  • hyperphosphatasia with intellectual disability syndrome 4
ORPHA:247262
  • hyperphosphatasia-intellectual disability syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP012363
Gene Name
post-GPI attachment to proteins 3

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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