Property Summary

NCBI Gene PubMed Count 25
Grant Count 3
R01 Count 2
Funding $618,452
PubMed Score 66.71
PubTator Score 53.28

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
Multiple myeloma 1.266 0.004
lung cancer 1.500 0.013
group 3 medulloblastoma 1.100 0.001
ovarian cancer 1.600 0.000

Synonym

Accession O15228 B4DNM9 Q5TBH7 Q9BWC2 DAP-AT
Symbols DAPAT
RCDP2
DAP-AT
DHAPAT

Gene

Gene RIF (6)

PMID Text
25605615 The variant of the GNPAT gene showed the most significant association with severe iron overload.
23933200 ACOX1 and GNPAT silencing up-regulated ceramide galactosyltransferase (UGT8) mRNA expression, and down-regulated UDP-glucoseceramide glucosyltransferase (UGCG).
21990100 Novel mutations in GNPAT cause rhizomelic chondrodysplasia punctata (RCDP) type 2.
16997000 Observational study of gene-disease association. (HuGE Navigator)
16997000 Chromosome 1q42.1 harbors GNPAT and DISC1 as candidate genes for schizophrenia.
15687349 peroxisomal DHAPAT is essential for the biosynthesis of plasmalogens in animal cells

AA Sequence

MESSSSSNSYFSVGPTSPSAVVLLYSKELKKWDEFEDILEERRHVSDLKFAMKCYTPLVYKGITPCKPID      1 - 70
IKCSVLNSEEIHYVIKQLSKESLQSVDVLREEVSEILDEMSHKLRLGAIRFCAFTLSKVFKQIFSKVCVN     71 - 140
EEGIQKLQRAIQEHPVVLLPSHRSYIDFLMLSFLLYNYDLPVPVIAAGMDFLGMKMVGELLRMSGAFFMR    141 - 210
RTFGGNKLYWAVFSEYVKTMLRNGYAPVEFFLEGTRSRSAKTLTPKFGLLNIVMEPFFKREVFDTYLVPI    211 - 280
SISYDKILEETLYVYELLGVPKPKESTTGLLKARKILSENFGSIHVYFGDPVSLRSLAAGRMSRSSYNLV    281 - 350
PRYIPQKQSEDMHAFVTEVAYKMELLQIENMVLSPWTLIVAVLLQNRPSMDFDALVEKTLWLKGLTQAFG    351 - 420
GFLIWPDNKPAEEVVPASILLHSNIASLVKDQVILKVDSGDSEVVDGLMLQHITLLMCSAYRNQLLNIFV    421 - 490
RPSLVAVALQMTPGFRKEDVYSCFRFLRDVFADEFIFLPGNTLKDFEEGCYLLCKSEAIQVTTKDILVTE    491 - 560
KGNTVLEFLVGLFKPFVESYQIICKYLLSEEEDHFSEEQYLAAVRKFTSQLLDQGTSQCYDVLSSDVQKN    561 - 630
ALAACVRLGVVEKKKINNNCIFNVNEPATTKLEEMLGCKTPIGKPATAKL                        631 - 680
//

Text Mined References (28)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25605615 2015 Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
23933200 2013 Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome.
21990100 2012 Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
21525035 2011 PEX14 is required for microtubule-based peroxisome motility in human cells.
21269460 2011 Initial characterization of the human central proteome.
20178365 2010 A proteome-wide perspective on peroxisome targeting signal 1(PTS1)-Pex5p affinities.
19946888 2010 Defining the membrane proteome of NK cells.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
16997000 2006 A single nucleotide polymorphism fine mapping study of chromosome 1q42.1 reveals the vulnerability genes for schizophrenia, GNPAT and DISC1: Association with impairment of sustained attention.
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