Property Summary

NCBI Gene PubMed Count 15
PubMed Score 12.24
PubTator Score 11.44

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
hepatocellular carcinoma 1.200 0.000
osteosarcoma -2.592 0.000
medulloblastoma, large-cell -1.200 0.002
tuberculosis and treatment for 3 months -1.500 0.000
ovarian cancer 1.700 0.000

Synonym

Accession Q9NUD9 D3DPL2 Q5JYG7 Q5JYG8 Q5JYG9 Q9NX26
Symbols PIG-V
HPMRS1
GPI-MT-II

Gene

Gene RIF (6)

PMID Text
24129430 Data indicate that mannosyltransferases PIGV mutations are the major cause of hyperphosphatasia-mental retardation syndrome (HPMRS) which displays a broad clinical variability regarding associated malformations and growth patterns.
23694781 PIGV is the rate-limiting enzyme in GPI biosynthesis under limited dolicholphosphate mannose availability.
22228761 Hyperphosphatasia resulted from secretion of ALP, a GPI-anchored protein normally expressed on the cell surface, into serum due to PIGV deficiency.
21739589 novel compound heterozygous mutations in the PIGV gene c.467G>A and c.1022C>A and a homozygous mutation c.1022C>A in hyperphosphatasia-mental retardation syndrome
20802478 PIGV mutations are associated with hyperphosphatasia mental retardation syndrome.
15623507 PIG-V is the second mannosyltransferase in GPI anchor biosynthesis.

AA Sequence

MWPQDPSRKEVLRFAVSCRILTLMLQALFNAIIPDHHAEAFSPPRLAPSGFVDQLVEGLLGGLSHWDAEH      1 - 70
FLFIAEHGYLYEHNFAFFPGFPLALLVGTELLRPLRGLLSLRSCLLISVASLNFLFFMLAAVALHDLGCL     71 - 140
VLHCPHQSFYAALLFCLSPANVFLAAGYSEALFALLTFSAMGQLERGRVWTSVLLFAFATGVRSNGLVSV    141 - 210
GFLMHSQCQGFFSSLTMLNPLRQLFKLMASLFLSVFTLGLPFALFQYYAYTQFCLPGSARPIPEPLVQLA    211 - 280
VDKGYRIAEGNEPPWCFWDVPLIYSYIQDVYWNVGFLKYYELKQVPNFLLAAPVAILVAWATWTYVTTHP    281 - 350
WLCLTLGLQRSKNNKTLEKPDLGFLSPQVFVYVVHAAVLLLFGGLCMHVQVLTRFLGSSTPIMYWFPAHL    351 - 420
LQDQEPLLRSLKTVPWKPLAEDSPPGQKVPRNPIMGLLYHWKTCSPVTRYILGYFLTYWLLGLLLHCNFL    421 - 490
PWT                                                                       491 - 493
//

Text Mined References (17)

PMID Year Title
24129430 2014 Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23694781 2013 Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability.
22228761 2012 Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.
21739589 2011 Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.
20802478 2010 Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
20578257 2010 Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15720390 2005 Saccharomyces cerevisiae Ybr004c and its human homologue are required for addition of the second mannose during glycosylphosphatidylinositol precursor assembly.
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