Property Summary

NCBI Gene PubMed Count 14
PubMed Score 12.78
PubTator Score 9.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (24)

Disease log2 FC p
astrocytic glioma 1.500 0.017
posterior fossa group B ependymoma -1.500 0.000
oligodendroglioma 1.800 0.013
psoriasis -1.200 0.002
osteosarcoma 2.189 0.000
group 4 medulloblastoma 2.300 0.000
atypical teratoid / rhabdoid tumor 1.200 0.044
glioblastoma 1.400 0.001
medulloblastoma, large-cell 1.300 0.002
primitive neuroectodermal tumor 2.000 0.008
Crohn's disease -1.177 0.011
ulcerative colitis -1.373 0.015
adrenocortical carcinoma -3.266 0.000
tuberculosis -3.000 0.000
lung cancer 1.800 0.000
diabetes mellitus -1.200 0.005
interstitial cystitis -2.100 0.000
lung adenocarcinoma -1.200 0.000
pediatric high grade glioma 1.200 0.000
pilocytic astrocytoma 1.400 0.000
non primary Sjogren syndrome sicca -1.100 0.011
nasopharyngeal carcinoma 1.600 0.001
Breast cancer -1.700 0.000
ovarian cancer -1.400 0.007

Synonym

Accession Q75T13 Q4G0R8 Q4ZG47 Q53SM0 Q6AW92 Q6UWV4 Q9HA24
Symbols Bst1
MRT42
SPG67
ISPD3024

Gene

PANTHER Protein Class (1)

Gene RIF (5)

PMID Text
26050939 Study confirms homozygous loss-of function mutations in PGAP1 as a cause of severe encephalopathy.
25804403 PGAP1 mutation and a proven functional loss of PGAP1 were found in a patient with cerebral visual impairment and intellectual diasability.
24784135 results add PGAP1 to the growing list of GPI abnormalities and indicate that not only the cell surface expression levels of GPI-APs but also the fine structure of GPI-anchors is important for the normal neurological development
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
14734546 PGAP1 encoded an ER-associated, 922-amino acid membrane protein bearing a lipase consensus motif.

AA Sequence

MFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQKIELPKKLAKRYPAYELYLYG      1 - 70
EGSYAEEHKILPLTGIPVLFLPGNAGSYKQVRSIGSIALRKAEDIDFKYHFDFFSVNFNEELVALYGGSL     71 - 140
QKQTKFVHECIKTILKLYKGQEFAPKSVAIIGHSMGGLVARALLTLKNFKHDLINLLITQATPHVAPVMP    141 - 210
LDRFITDFYTTVNNYWILNARHINLTTLSVAGGFRDYQVRSGLTFLPKLSHHTSALSVVSSAVPKTWVST    211 - 280
DHLSIVWCKQLQLTTVRAFFDLIDADTKQITQNSKKKLSVLYHHFIRHPSKHFEENPAIISDLTGTSMWV    281 - 350
LVKVSKWTYVAYNESEKIYFTFPLENHRKIYTHVYCQSTMLDTNSWIFACINSTSMCLQGVDLSWKAELL    351 - 420
PTIKYLTLRLQDYPSLSHLVVYVPSVRGSKFVVDCEFFKKEKRYIQLPVTHLFSFGLSSRKVVLNTNGLY    421 - 490
YNLELLNFGQIYQAFKINVVSKCSAVKEEITSIYRLHIPWSYEDSLTIAQAPSSTEISLKLHIAQPENNT    491 - 560
HVALFKMYTSSDCRYEVTVKTSFSQILGQVVRFHGGALPAYVVSNILLAYRGQLYSLFSTGCCLEYATML    561 - 630
DKEAKPYKVDPFVIIIKFLLGYKWFKELWDVLLLPELDAVILTCQSMCFPLISLILFLFGTCTAYWSGLL    631 - 700
SSASVRLLSSLWLALKRPSELPKDIKMISPDLPFLTIVLIIVSWTTCGALAILLSYLYYVFKVVHLQASL    701 - 770
TTFKNSQPVNPKHSRRSEKKSNHHKDSSIHHLRLSANDAEDSLRMHSTVINLLTWIVLLSMPSLIYWLKN    771 - 840
LRYYFKLNPDPCKPLAFILIPTMAILGNTYTVSIKSSKLLKTTSQFPLPLAVGVIAFGSAHLYRLPCFVF    841 - 910
IPLLLHALCNFM                                                              911 - 922
//

Text Mined References (15)

PMID Year Title
26050939 2015 Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.
25804403 2015 Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
25338677 Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
24784135 2014 Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17711852 2007 PGAP1 knock-out mice show otocephaly and male infertility.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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