PIGV (phosphatidylinositol glycan anchor biosynthesis class V)

2014-11-01  

Identity

HGNC
PIGV
LOCATION
1p36.11
LOCUSID
55650
ALIAS
GPI-MT-II,HPMRS1,PIG-V
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55650
MIM: 610274
HGNC: 26031
Ensembl: ENSG00000060642

Variants:

dbSNP: 55650
ClinVar: 55650
TCGA: ENSG00000060642
COSMIC: PIGV

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000060642ENST00000078527Q9NUD9
ENSG00000060642ENST00000374145Q9NUD9
ENSG00000060642ENST00000431541X1WI27
ENSG00000060642ENST00000455364A0A0A0MSX6
ENSG00000060642ENST00000472757E9PQC7

Expression (GTEx)

0
10
20
30
40
50
60
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
GPI-anchor biosynthesis, core oligosaccharideKEGGhsa_M00065
GPI-anchor biosynthesis, core oligosaccharideKEGGM00065
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125
Synthesis of glycosylphosphatidylinositol (GPI)REACTOMER-HSA-162710

References

Pubmed IDYearTitleCitations
241294302014Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.18
241294302014Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.18
236947812013Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability.5
236947812013Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability.5
222287612012Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.46
222287612012Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.46
217395892011Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.25
217395892011Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.25
208024782010Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.123
208024782010Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.123
156235072005PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol.33
156235072005PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol.33

Citation

Dessen P

PIGV (phosphatidylinositol glycan anchor biosynthesis class V)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71909/pigv-(phosphatidylinositol-glycan-anchor-biosynthesis-class-v)