Property Summary

NCBI Gene PubMed Count 11
Grant Count 81
R01 Count 8
Funding $22,460,606
PubMed Score 139.00
PubTator Score 27.37

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
psoriasis -1.400 0.000
osteosarcoma -1.709 0.025
atypical teratoid / rhabdoid tumor 1.300 0.000
medulloblastoma 1.100 0.003
medulloblastoma, large-cell 1.300 0.000
primitive neuroectodermal tumor 1.100 0.001
lung cancer 1.100 0.011
adult high grade glioma 1.200 0.004
Breast cancer -1.200 0.000

Synonym

Accession Q9Y2B2 A8KA67 B4DYN4
Symbols CHIME

Gene

Gene RIF (3)

PMID Text
25706356 fd hrhr rt eruj jej
22444671 Whole-exome sequencing on five previously reported CHIME cases identified PIGL (N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase) as required for glycosylphosphatidylinositol anchor formation.
19460752 Knockdown of phosphatidylinositol glycan anchor biosynthesis, class L (PIGL) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells

AA Sequence

MEAMWLLCVALAVLAWGFLWVWDSSERMKSREQGGRLGAESRTLLVIAHPDDEAMFFAPTVLGLARLRHW      1 - 70
VYLLCFSAGNYYNQGETRKKELLQSCDVLGIPLSSVMIIDNRDFPDDPGMQWDTEHVARVLLQHIEVNGI     71 - 140
NLVVTFDAGGVSGHSNHIALYAAVRALHSEGKLPKGCSVLTLQSVNVLRKYISLLDLPLSLLHTQDVLFV    141 - 210
LNSKEVAQAKKAMSCHRSQLLWFRRLYIIFSRYMRINSLSFL                                211 - 252
//

Text Mined References (12)

PMID Year Title
25706356 2015 Mutations in PIGL in a patient with Mabry syndrome.
22959728 2013 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
22444671 2012 Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14742432 2004 Subcellular localization and targeting of N-acetylglucosaminyl phosphatidylinositol de-N-acetylase, the second enzyme in the glycosylphosphatidylinositol biosynthetic pathway.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11102867 2000 Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis.
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