GPAA1 (glycosylphosphatidylinositol anchor attachment 1)

2007-02-01  

Identity

HGNC
GPAA1
LOCATION
8q24.3
LOCUSID
8733
ALIAS
GAA1,GPIBD15,hGAA1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8733
MIM: 603048
HGNC: 4446
Ensembl: ENSG00000197858

Variants:

dbSNP: 8733
ClinVar: 8733
TCGA: ENSG00000197858
COSMIC: GPAA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197858ENST00000355091O43292
ENSG00000197858ENST00000361036O43292
ENSG00000197858ENST00000524418E9PPZ9
ENSG00000197858ENST00000525087E9PQ31
ENSG00000197858ENST00000528073E9PLV6
ENSG00000197858ENST00000529503E9PM11
ENSG00000197858ENST00000530258E9PLG8
ENSG00000197858ENST00000530633E9PM94

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGko00563
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGhsa00563
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125
Attachment of GPI anchor to uPARREACTOMER-HSA-162791

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
334969782021Subunits of the GPI transamidase complex localize to the endoplasmic reticulum and nuclear envelope in Drosophila.2
334969782021Subunits of the GPI transamidase complex localize to the endoplasmic reticulum and nuclear envelope in Drosophila.2
324327562020GPAA1 promotes progression of childhood acute lymphoblastic leukemia through regulating c-myc.3
325333622020A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.4
329937922020Structural modelling of the lumenal domain of human GPAA1, the metallo-peptide synthetase subunit of the transamidase complex, reveals zinc-binding mode and two flaps surrounding the active site.3
324327562020GPAA1 promotes progression of childhood acute lymphoblastic leukemia through regulating c-myc.3
325333622020A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.4
329937922020Structural modelling of the lumenal domain of human GPAA1, the metallo-peptide synthetase subunit of the transamidase complex, reveals zinc-binding mode and two flaps surrounding the active site.3
311181092019GPAA1 promotes gastric cancer progression via upregulation of GPI-anchored protein and enhancement of ERBB signalling pathway.15
311181092019GPAA1 promotes gastric cancer progression via upregulation of GPI-anchored protein and enhancement of ERBB signalling pathway.15
291000952017Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.29
291000952017Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.29
247431672014Transamidase subunit GAA1/GPAA1 is a M28 family metallo-peptide-synthetase that catalyzes the peptide bond formation between the substrate protein's omega-site and the GPI lipid anchor's phosphoethanolamine.22
247431672014Transamidase subunit GAA1/GPAA1 is a M28 family metallo-peptide-synthetase that catalyzes the peptide bond formation between the substrate protein's omega-site and the GPI lipid anchor's phosphoethanolamine.22
180285492007Alterations of GPI transamidase subunits in head and neck squamous carcinoma.9

Citation

Dessen P

GPAA1 (glycosylphosphatidylinositol anchor attachment 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43871