Property Summary

NCBI Gene PubMed Count 8
PubMed Score 3.97
PubTator Score 4.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
osteosarcoma 2.183 1.4e-04
glioblastoma 1.300 2.6e-06
acute quadriplegic myopathy 1.864 3.1e-06
pancreatic ductal adenocarcinoma liver m... -2.061 1.7e-03
non-small cell lung cancer 1.158 4.8e-15
diabetes mellitus -1.400 1.3e-03
Breast cancer 4.300 2.4e-02
pediatric high grade glioma 1.100 1.6e-07
non primary Sjogren syndrome sicca 1.400 1.2e-02
Pick disease -1.200 9.2e-04
gastric carcinoma 1.200 3.7e-02
ovarian cancer 2.100 7.8e-04

 IMPC Phenotype (1)

Gene RIF (2)

PMID Text
22887726 concluded that IMPAD1 should be screened for patients with Catel-Manzke and additional features
21549340 Affected individuals carried homozygous missense mutations in IMPAD1, the gene coding for gPAPP, a Golgi-resident nucleotide phosphatase that hydrolyzes phosphoadenosine phosphate (PAP), the byproduct of sulfotransferase reactions, to AMP.

AA Sequence

MAPMGIRLSPLGVAVFCLLGLGVLYHLYSGFLAGRFSLFGLGGEPGGGAAGPAAAADGGTVDLREMLAVS      1 - 70
VLAAVRGGDEVRRVRESNVLHEKSKGKTREGAEDKMTSGDVLSNRKMFYLLKTAFPSVQINTEEHVDAAD     71 - 140
QEVILWDHKIPEDILKEVTTPKEVPAESVTVWIDPLDATQEYTEDLRKYVTTMVCVAVNGKPMLGVIHKP    141 - 210
FSEYTAWAMVDGGSNVKARSSYNEKTPRIVVSRSHSGMVKQVALQTFGNQTTIIPAGGAGYKVLALLDVP    211 - 280
DKSQEKADLYIHVTYIKKWDICAGNAILKALGGHMTTLSGEEISYTGSDGIEGGLLASIRMNHQALVRKL    281 - 350
PDLEKTGHK                                                                 351 - 359
//

Text Mined References (12)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
22887726 2012 IMPAD1 mutations in two Catel-Manzke like patients.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21549340 2011 Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
21269460 2011 Initial characterization of the human central proteome.
19946888 2010 Defining the membrane proteome of NK cells.
18695242 2008 A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12754519 2003 Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.