PGAP3 (post-GPI attachment to proteins phospholipase 3)

2009-06-01   Dessen P  

Identity

HGNC
PGAP3
LOCATION
17q12
LOCUSID
93210
ALIAS
AGLA546,CAB2,PERLD1,PP1498,hCOS16
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 93210
MIM: 611801
HGNC: 23719
Ensembl: ENSG00000161395

Variants:

dbSNP: 93210
ClinVar: 93210
TCGA: ENSG00000161395
COSMIC: PGAP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161395ENST00000300658Q96FM1
ENSG00000161395ENST00000378011Q96FM1
ENSG00000161395ENST00000429199Q96FM1
ENSG00000161395ENST00000577337J3QRN7
ENSG00000161395ENST00000579146J3QKU0
ENSG00000161395ENST00000584620J3KTJ2
ENSG00000161395ENST00000584856J3QQL0
ENSG00000161395ENST00000619169A0A087WTP0

Expression (GTEx)

0
10
20
30
40
50
60
70
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

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
fallopian tube
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
376478292023Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.0
378393612023High PGAP3 expression is associated with lymph node metastasis and low CD8(+)T cell in patients with HER2(+) breast cancer.0
376478292023Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.0
378393612023High PGAP3 expression is associated with lymph node metastasis and low CD8(+)T cell in patients with HER2(+) breast cancer.0
335914612021The novel circular RNA circ-PGAP3 retards cervical cancer growth by regulating the miR-769-5p/p53 axis.4
340517342021Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.8
335914612021The novel circular RNA circ-PGAP3 retards cervical cancer growth by regulating the miR-769-5p/p53 axis.4
340517342021Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.8
319598602020The Asthma-associated PER1-like domain-containing protein 1 (PERLD1) Haplotype Influences Soluble Glycosylphosphatidylinositol Anchor Protein (sGPI-AP) Levels in Serum and Immune Cell Proliferation.3
328450562020Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients.7
319598602020The Asthma-associated PER1-like domain-containing protein 1 (PERLD1) Haplotype Influences Soluble Glycosylphosphatidylinositol Anchor Protein (sGPI-AP) Levels in Serum and Immune Cell Proliferation.3
328450562020Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients.7
283900642018PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.15
283900642018PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.15
271202532016Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.26

Citation

Dessen P

PGAP3 (post-GPI attachment to proteins phospholipase 3)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50943/pgap3-(post-gpi-attachment-to-proteins-phospholipase-3)