PIGV (phosphatidylinositol glycan anchor biosynthesis class V)

2014-11-01  

Identity

HGNC
LOCATION
1p36.11
LOCUSID
ALIAS
GPI-MT-II,HPMRS1,PIG-V
FUSION GENES

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

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
208024782010Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.109
222287612012Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.32
156235072005PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol.25
217395892011Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.16
241294302014Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.11
236947812013Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability.5

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